Items where Subject is "Q Science > QH Natural history > QH426 Genetics"

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
[tool] Add To Shelf...
Number of items at this level: 2347.

Collins, Andrew R. (ed.) (2008) Linkage disequilibrium and association mapping: analysis and applications, Totowa, USA, Humana, 255pp. (Methods in Molecular Biology, 376).

Jones, Caroline (2011) Invited speaker/participant in Genes and Parenting Scoping Meeting. Genes and Parenting Scoping Meeting, London, GB, Jun 2011.

Abbes, A.P., Davies, J.H., Penney, M., Engel, H. and Gregory, J.W. (2006) Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm05602. [In: Novel Human Pathological Mutations (Human Gene Mutations), Paul D. Lewis]. Human Genetics, 118, (6), p.10. (doi:10.1007/s00439-005-0109-6).

Abdelmotelb, A.M., Rose-Zerilli, M.J., Barton, S.J., Holgate, S.T., Walls, A.F. and Holloway, J.W. (2014) Alpha-tryptase gene variation is associated with levels of circulating IgE and lung function in asthma. Clinical & Experimental Allergy, 44, (6), 822-830. (doi:10.1111/cea.12259). (PMID:24372627).

Abdollahi, M.R., Gaunt, T.R., Syddall, H.E., Cooper, C., Phillips, D.I.W., Ye, S. and Day, I.N.M. (2005) Angiotensin II type I receptor gene polymorphism: anthropometric and metabolic syndrome traits. Journal of Medical Genetics, 42, (5), 396-401. (doi:10.1136/jmg.2004.026716). (PMID:15863668).

Abdollahi, Mohammad R., Lewis, Rohan M., Gaunt, Tom R., Cumming, Debbie V.E., Rodriguez, Santiago, Rose-Zerilli, Matthew, Collins, Andrew R., Syddall, Holly E., Howell, William M., Cooper, Cyrus, Godfrey, Keith M., Cameron, Iain T. and Day, Ian N.M. (2007) Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits. Human Mutation, 28, (4), 365-373. (doi:10.1002/humu.20454). (PMID:17211857).

Abdollahi, Mohammad R., Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E., Carr, Ian M., Springell, Kelly, Woods, C. Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T., Stoodley, Neil, Crow, Yanick, Taylor, Graham R., Bonthron, David T. and Sheridan, Eamonn (2009) Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. The American Journal of Human Genetics, 85, (5), 737-744. (doi:10.1016/j.ajhg.2009.10.007). (PMID:19896110).

Abdollahi, Mohammad Reza, Guthrie, Philip A.I., Smith, George Davey, Lawlor, Debbie A., Ebrahim, Shah and Day, Ian N.M. (2006) Integrated single-label liquid-phase assay of APOE codons 112 and 158 and a lipoprotein study in British women. Clinical Chemistry, 52, (7), 1420-1423. (doi:10.1373/clinchem.2006.067082). (PMID:16644874).

Abraham, Mary B., Carpenter, Karen, Baynam, Gareth S., Mackay, Deborah J.G., Price, Glynis and Choong, Catherine S. (2014) Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome. Journal of Paediatrics and Child Health, n/a-n/a. (doi:10.1111/jpc.12778). (PMID:25418154 ).

Agathocleous, A., Rule, S., Johnson, P., Radford, J.A., Lafon, N., Hunter, H., Kerr, J.P., Neeson, S.M., Matthews, J., Strauss, S., Montoto, S., Rohatiner, A.Z.S. and Lister, T.A. (2007) Preliminary results of a phase I/II study of weekly or twice weekly bortezomib in combination with rituximab, in patients with follicular lymphoma, mantle cell lymphoma and Waldenström's macroglobulinaemia. Blood, 110, (11), p.754A.

Agbeko, Rachel S., Holloway, John W., Allen, Meredith L., Ye, Shu, Fidler, Katy J., Pappachan, John, Goldman, Allan, Pontefract, David, Deanfield, John, Klein, Nigel J. and Peters, Mark J. (2010) Genetic polymorphisms in the endotoxin receptor may influence platelet count as part of the acute phase response in critically ill children. Intensive Care Medicine, 36, (6), 1023-1032. (doi:10.1007/s00134-010-1857-x).

Agell, Gemma, Rius, Marc and Pascual, Marta (2009) Isolation and characterization of eight polymorphic microsatellite loci for the Mediterranean gorgonian Paramuricea clavata. Conservation Genetics, 10, (6), 2025-2027. (doi:10.1007/s10592-009-9885-1).

Ahmed, A., Jevremovic, D., Suzuki, K., Kottke, T., Thompson, J., Emery, S., Harrington, K., Bateman, A. and Vile, R. (2003) Intratumoral expression of a fusogenic membrane glycoprotein enhances the efficacy of replicating adenovirus therapy. Gene therapy, 10, (19), 1663-1671. (doi:10.1038/sj.gt.3302064).

Ahmed, S., Ghoussaini, M., Healey, C.S., Humphreys, M.K., Platte, R., Morrison, J., Maranian, M., Pooley, K.A., Luben, R., Eccles, D., Evans, D.G., Fletcher, O., Johnson, N., dos Santos Silva, I., Peto, J., Stratton, M.R., Rahman, N., Jacobs, K., Prentice, R., Anderson, G.L., Rajkovic, A., Curb, J.D., Ziegler, R.G., Berg, C.D., Buys, S.S., McCarthy, C.A., Feigelson, H.S., Calle, E.E., Thun, M.J., Diver, W.R., Bojesen, S., Nordestgaard, B.G., Flyger, H., Dork, T., Schurmann, P., Hillemanns, P., Karstens, J.H., Bogdanova, N.V., Antonenkova, N.N., Zalutsky, I.V., Bermisheva, M., Fedorova, S., Khusnutdinova, E., Kang, D., Yoo, K.Y., Noh, D.Y., Ahn, S.H., Devilee, P., van Asperen, C.J., Tollenaar, R.S., Seynaeve, C., Garcia-Closas, M., Lissowska, J., Brinton, L., Peplonska, B., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Hopper, J.L., Southey, M.C., Smith, L., Spurdle, A.B., Schmidt, M.K., Broeks, A., van Hien, R.R., Cornelissen, S., Milne, R.L., Ribas, G., Gonzalez-Neira, A., Benitez, J., Schmutzler, R.K., Burwinkel, B., Bartram, C.R., Meindl, A., Brauch, H., Justenhoven, C., Hammann, U., Chang-Claude, J., Hein, R., Wang-Gohrke, S., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V.M., Kataja, V., Olson, J.E., Wang, X., Fredericksen, Z., Giles, G.G., Severi, G., Baglietto, L., English, D.R., Hankinson, S.E., Cox, D.G., Kraft, P., Vatten, L.J., Hveem, K., Kumle, M., Sigurdson, A., Doody, M., Bhatti, P., Alexander, B.H., Hooning, N.J., van den Ouweland, A.M., Oldenburg, R.A., Schutte, M., Hall, P., Czene, K., Liu, J., Li, Y., Cox, A., Elliott, G., Brock, I., Reed, M.W., Shen, C.Y., Yu, J.C., Hsu, G.C., Chen, S.T., Anton-Culver, H., Ziogas, A., Andrulis, I.L., Knight, J.A., Beesley, J., Goode, E.L., Couch, F., Chenevix-Trench, G., Hoover, R.N., Ponder, B.A., Hunter, D.J., Pharaoah, P.D., Dunning, A.M., Chanock, S.J. and Easton, D.F. SEARCH, GENICA Consortium and kConFab; Australian Ovarian Cancer Study Group (2009) Newly discovered breast cancer susceptibility loci in 3p24 and 17q23.2. Nature Genetics, 41, (5), 585-590. (doi:10.1038/ng.354). (PMID:19330027).

Aihie-Sayer, Avan and Cooper, Cyrus (2005) Fetal programming of body composition and musculoskeletal development. Early Human Development, 81, (9), 735-744. (doi:10.1016/j.earlhumdev.2005.07.003).

Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David F., Wilson, David I., Mital, Seema and Hurles, Matthew E. UK10K Consortium (2014) Rare variants in NR2F2 cause congenital heart defects in humans. The American Journal of Human Genetics, 94, (4), 574-585. (doi:10.1016/j.ajhg.2014.03.007). (PMID:24702954).

Al-Ruwaili, J.A., Larkin, S.E., Zeidan, B.A., Taylor, M.G., Adra, C.N., Aukim-Hastie, C.L. and Townsend, P.A. (2010) Discovery of serum protein biomarkers for prostate cancer progression by proteomic analysis. Cancer Genomics and Proteomics, 7, (2), 93-103.

Alam, N.A., Bevan, S., Churchman, M., Barclay, E., Barker, K., Jaeger, E.E., Nelson, H.M., Healy, E., Pembroke, A.C., Friedmann, P.S., Dalziel, K., Calonje, E., Anderson, J., August, P.J., Davies, M.G., Felix, R., Munro, C.S., Murdoch, M., Rendall, J., Kennedy, S., Leigh, I.M., Kelsell, D.P., Tomlinson, I.P. and Houlston, R.S. (2001) Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. American Journal of Human Genetics, 68, (5), 1264-1269.

Aldahmesh, M., Spanakis, E., Day, I.N.M. and Eccles, D.M. (2001) The application of microplate array diagonal gel electrophoresis (melt-MADGE) to high throughput inexpensive BRCA1 mutation analysis. Journal of Medical Genetics, 38, pp.S58.

Alexander, Melannie, Karmaus, Wilfried, Holloway, John W., Zhang, Hongmei, Roberts, Graham, Kurukulaaratchy, Ramesh J., Arshad, Syed Hasan and Ewart, Susan (2013) Effect of GSTM2-5 polymorphisms in relation to tobacco smoke exposures on lung function growth: a birth cohort study. BMC Pulmonary Medicine, 13, (1), 56. (doi:10.1186/1471-2466-13-56).

Alexander, Philip, Gibson, Jane, Cree, Angela J, Ennis, Sarah and Lotery, Andrew J (2014) Complement factor I and age-related macular degeneration. Molecular Vision, 20, 1253-1257. (PMID:5352734).

Alfred, Tamuno, Ben-Shlomo, Yaov, Cooper, Rachel, Hardy, Rebecca, Cooper, Cyrus, Deary, Ian J., Elliott, Jane, Gunnell, David, Harris, Sarah E., Kivimaki, Mika, Kumari, Meena, Martin, Richard M., Power, Chris, Sayer, Avan A., Starr, John M., Kuh, Diana and Day, Ian N. HALCyon Study Team (2011) Absence of association of a SNP in the TERT-CLPTM1L locus with age-related phenotypes in a large multi-cohort study: HALCyon program. Aging Cell, 10, (3), 520-532. (doi:10.1111/j.1474-9726.2011.00687.x). (PMID:21332924).

Alfred, Tamuno, Ben-Shlomo, Yoav, Cooper, Rachel, Hardy, Reecca, Cooper, Cyrus, Deary, Ian J., Gunnell, David, Harris, Sarah E., Kumari, Meena, Martin, Richard M., Moran, Colin N., Pitsiladis, Yannis P,, Ring, Susan M., Sayer, Avan Aihie, Smith, George Davey, Starr, John M., Kuh, Diana, Day, Ian N.M. and HALCyon Study Team (2011) ACTN3 genotype, althletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies. Human Mutation, 32, (9), 1008-1018. (doi:10.1002/humu.21526). (PMID:21542061).

Alharbi, K.K., Haddad, L., Ye, S., Lawlor, D.A., Whittall, R.A., Spanakis, E., Chen, X., Rassoulian, H., Simpson, I., Phillips, D.I.W., Cooper, C., Smith, G. Davey, Humphries, S.E., Ebrahim, S. and Day, I.N.M. (2004) Workshop. W14.345 Mutation scanning of LDLR in the whole population. Atherosclerosis Supplements, 5, (1), p.80. (doi:10.1016/S1567-5688(04)90344-9).

Alharbi, Khalid K., Aldahmesh, Mohammed A., Spanakis, Emmanuel, Haddad, Lema, Whittall, Roslyn A., Chen, Xiao-he, Rassoulian, Hamid, Smith, Matt J., Sillibourne, Julie, Ball, Nicola J., Graham, Nikki J., Briggs, Patricia J., Simpson, Iain A., Phillips, David I.W., Lawlor, Deborah A., Ye, Shu, Humphries, Stephen E., Cooper, Cyrus, Smith, George Davey, Ebrahim, Shah, Eccles, Diana M. and Day, Ian N.M. (2005) Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population. Genome Research, 15, (7), 967-977. (doi:10.1101/gr.3313405).

Alhopuro, Pia, Phichith, Denis, Tuupanen, Sari, Sammalkorpi, Heli, Nybondas, Miranda, Saharinen, Juha, Robinson, James P., Yang, Zhaohui, Chen, Li-Qiong, Orntoft, Torben, Mecklin, Jukka-Pekka, Järvinen, Heikki, Eng, Charis, Moeslein, Gabriela, Shibata, Darryl, Houlston, Richard S., Lucassen, Anneke, Tomlinson, Ian P.M., Launonen, Virpi, Ristimäk, Ari, Arango, Diego, Karhu, Auli, Sweeney, H. Lee and Aaltonen, Lauri A. (2008) Unregulated smooth-muscle myosin in human intestinal neoplasia. Proceedings of the National Academy of Sciences of the United States of America, 105, (14), 5513-5518. (doi:10.1073/pnas.0801213105).

Ali, Shakir and Mann, Derek A. (2004) Signal transduction via the NF-κB pathway: a targeted treatment modality for infection, inflammation and repair. Cell Biochemistry and Function, 22, (2), 67-79. (doi:10.1002/cbf.1082).

Allen, Michelle A., Lauro, Federico M., Williams, Timothy J., Burg, Dominic, Siddiqui, Khawar S., De Francisci, Davide, Chong, Kevin W. Y., Pilak, Oliver, Chew, Hwee H., De Maere, Matthew Z., Ting, Lily, Katrib, Marilyn, Ng, Charmaine, Sowers, Kevin R., Galperin, Michael Y., Anderson, Iain J., Ivanova, Natalia, Dalin, Eileen, Martinez, Michele, Lapidus, Alla, Hauser, Loren, Land, Miriam, Thomas, Torsten and Cavicchioli, Ricardo (2009) The genome sequence of the psychrophilic archaeon, Methanococcoides burtonii: the role of genome evolution in cold adaptation. The ISME Journal, 3, (9), 1012-1035. (doi:10.1038/ismej.2009.45). (PMID:19404327).

Alter, Galit, Heckerman, David, Schneidewind, Arne, Fadda, Lena, Kadie, Carl M., Carlson, Jonathan M., Oniangue-Ndza, Cesar, Martin, Maureen, Li, Bin, Khakoo, Salim I., Carrington, Mary, Allen, Todd M. and Altfeld, Marcus (2011) HIV-1 adaptation to NK-cell-mediated immune pressure. Nature, 476, (7358), 96-100. (doi:10.1038/nature10237). (PMID:21814282).

Amaral Zettler, Linda A., Messerli, Mark A., Laatsch, Abby D, Smith, Peter J.S. and Sogin, Mitchell L. (2003) From genes to genomes: beyond biodiversity in Spain's Rio Tinto. The Biological Bulletin, 204, (2), 205-209. (PMID:12700155).

Amaya-Amaya, Mabel, Gerard, Karen and Ryan, Mandy (2008) Discrete choice experiments in a nutshell. In, Ryan, Mandy, Gerard, Karen and Amaya-Amaya, Mabelo (eds.) Using Discrete Choice Experiments to Value Health and Health Care. Dordrecht, NL, Springer, 13-46. (The Economics of Non-Market Goods and Resources, 11). (doi:10.1007/978-1-4020-5753-3).

An, Q., Burke, G.A.A., Harrison, C.J., Kempski, H., Konn, Z.J., Strefford, J.C. and Martineau, M. (2009) Haploinsufficiency of the MLL and TOB2 genes in lymphoid malignancy. Leukemia (doi:10.1038/leu.2009.238).

An, Q., Wright, S.L., Konn, Z.J., Moorman, A.V., Harrison, C.J. and Strefford, J.C. (2007) Disruption of PAX5 in patients with acute lymphoblastic leukaemia and dicentric chromosomes. Journal of Medical Genetics, 44, pp.S32.

An, Qian, Wright, Sarah L., Konn, Zoë J., Matheson, Elizabeth, Minto, Lynne, Moorman, Anthony V., Parker, Helen, Griffiths, Mike, Ross, Fiona M., Davies, Teresa, Hall, Andy G., Harrison, Christine J., Irving, Julie A. and Strefford, Jon C. (2008) Variable breakpoints target PAX5 in patients with dicentric chromosomes: a model for the basis of unbalanced translocations in cancer. Proceedings of the National Academy of Sciences of the Unites States of America, 105, (44), 17050-17054. (doi:10.1073/pnas.0803494105). (PMID:18957548).

An, Qian, Wright, Sarah L., Moorman, Anthony V., Parker, Helen, Griffiths, Mike, Ross, Fiona M., Davies, Teresa, Harrison, Christine J. and Strefford, Jon C. (2009) Heterogeneous breakpoints in patients with acute lymphoblastic leukaemia and dic(9;20)(p11~13;q11) show recurrent gene involvement at 20q11.21. Haematologica, 94, (8), 1164-1169. (doi:10.3324/haematol.2008.002808).

Andermann, Anne A.J., Watson, Eila K., Lucassen, Anneke M. and Austoker, Joan (2001) The opinions, expectations and experiences of women with a family history of breast cancer who consult their GP and are referred to secondary care. Community Genetics, 4, (4), 239-243. (doi:10.1159/000064199).

Anderson, Beverley H, Kasher, Paul R, Mayer, Josephine, Szynkiewicz, Marcin, Jenkinson, Emma M, Bhaskar, Sanjeev S, Urquhart, Jill E, Daly, Sarah B, Dickerson, Jonathan E, O'Sullivan, James, Leibundgut, Elisabeth Oppliger, Muter, Joanne, Abdel-Salem, Ghada M H, Babul-Hirji, Riyana, Baxter, Peter, Berger, Andrea, Bonafé, Luisa, Brunstom-Hernandez, Janice E, Buckard, Johannes A, Chitayat, David, Chong, Wui K, Cordelli, Duccio M, Ferreira, Patrick, Fluss, Joel, Forrest, Ewan H, Franzoni, Emilio, Garone, Caterina, Hammans, Simon R, Houge, Gunnar, Hughes, Imelda, Jacquemont, Sebastien, Jeannet, Pierre-Yves, Jefferson, Rosalind J, Kumar, Ram, Kutschke, Georg, Lundberg, Staffan, Lourenço, Charles M, Mehta, Ramesh, Naidu, Sakkubai, Nischal, Ken K, Nunes, Luís, Õunap, Katrin, Philippart, Michel, Prabhakar, Prab, Risen, Sarah R, Schiffmann, Raphael, Soh, Calvin, Stephenson, John B P, Stewart, Helen, Stone, Jon, Tolmie, John L, van der Knaap, Marjo S, Vieira, Jose P, Vilain, Catheline N, Wakeling, Emma L, Wermenbol, Vanessa, Whitney, Andrea, Lovell, Simon C, Meyer, Stefan, Livingston, John H, Baerlocher, Gabriela M, Black, Graeme C M, Rice, Gillian I and Crow, Yanick J (2012) Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics, 44, (3), 338-342. (doi:10.1038/ng.1084).

Anderson, Christopher, Davies, Justin H., Lamont, Lilias and Foulds, Nicola (2011) Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? American Journal of Medical Genetics Part A, 155, (4), 667-672. (doi:10.1002/ajmg.a.33897).

Anderson, James W., Fox, Keith R. and Niblo, Graham A. (2006) A fast algorithm for the construction of universal footprinting templates in DNA. Journal of Mathematical Biology, 52, (3), 307-342. (doi:10.1007/s00285-005-0357-z).

Andrews, Allison-Lynn, Nordgren, Ida Karin, Campbell-Harding, Gemma, Holloway, John W., Holgate, Stephen T., Davies, Donna E. and Tavassoli, Ali (2013) The association of the cytoplasmic domains of interleukin 4 receptor alpha and interleukin 13 receptor alpha 2 regulates interleukin 4 signaling. Molecular BioSystems, 9, (12), 3009-3014. (doi:10.1039/C3MB70298G). (PMID:24056919).

Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, ahin, Hennekam, R. C. M., Lampe, A. K., Redeker, E., Homfray, T., Ross, A., Falkenberg Smeland, M., Mansour, S., Parker, M. J., Cook, J. A., Splitt, M., Fisher, R. B., Fryer, A., Magee, A. C., Wilkie, A., Barnicoat, A., Brady, A. F., Cooper, N. S., Mercer, C., Deshpande, C., Bennett, C. P., Pilz, D. T., Ruddy, D., Cilliers, D., Johnson, D. S., Josifova, D., Rosser, E., Thompson, E. M., Wakeling, E., Kinning, E., Stewart, F., Flinter, F., Girisha, K. M., Cox, H., Firth, H. V., Kingston, H., Wee, J. S., Hurst, J. A., Clayton-Smith, J., Tolmie, J., Vogt, J., Tatton-Brown, K., Chandler, K., Prescott, K., Wilson, L., Behnam, M., McEntagart, M., Davidson, R., Lynch, S.-A., Sisodiya, S., Mehta, S. G., McKee, S. A., Mohammed, S., Holden, S., Park, S.-M., Holder, S. E., Harrison, V., McConnell, V., Lam, W. K., Green, A. J., Donnai, D., Bitner-Glindzicz, M., Donnelly, D. E., Nellaker, C., Taylor, M. S. and FitzPatrick, D. R. (2014) Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Journal of Medical Genetics, 51, (10), 659-668. (doi:10.1136/jmedgenet-2014-102573).

Ansari, Morad, Rainger, Jacqueline K., Murray, Jennie E., Hanson, Isabel, Firth, Helen V., Mehendale, Felicity, Amiel, Jeanne, Gordon, Christopher T., Percesepe, Antonio, Mazzanti, Laura, Fryer, Alan, Ferrari, Paola, Devriendt, Koenraad, Temple, I. Karen and FitzPatrick, David R. (2014) A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. European Journal of Medical Genetics, 57, (10), 587-595. (doi:10.1016/j.ejmg.2014.08.007).

Antoniou, A., Pharoah, P.D.P., Narod, S., Risch, H.A., Eyfjord, J.E., Hopper, J.L., Loman, N., Olsson, H., Johannsson, O., Borg, A., Pasini, B., Radice, P., Manoukian, S., Eccles, D.M., Tang, N., Olah, E., Anton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tulinius, H., Thorlacius, S., Eerola, H., Nevanlinna, H., Syrjäkoski, K., Kallioniemi, O.-P., Thompson, D., Evans, C., Peto, J., Lalloo, F., Evans, D.G. and Easton, D.F. (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. American Journal of Human Genetics, 72, (5), 1117-1130.

Antoniou, A.C., Cunningham, A.P., Peto, J., Evans, D.G., Lalloo, F., Narod, S.A., Risch, H.A., Eyfjord, J.E., Hopper, J.L., Southey, M.C., Olsson, H., Johannsson, O., Borg, A., Pasini, B., Radice, P., Manoukian, S., Eccles, D.M., Tang, N., Olah, E., Anton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tryggvadottir, L., Syrjakoski, K., Kallioniemi, O.P., Eerola, H., Nevanlinna, H., Pharoah, P.D. and Easton, D.F. (2008) The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. British Journal of Cancer, 98, (8), 1457-1466. (doi:10.1038/sj.bjc.6604305).

Antoniou, A.C., Hardy, R., Walker, L., Evans, D.G., Shenton, A., Eeles, R., Shanley, S., Pichert, G., Izatt, L., Rose, S., Douglas, F., Eccles, D., Morrison, P.J., Scott, J., Zimmern, R.L., Easton, D.F. and Pharoah, P.D.P. (2008) Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. Journal of Medical Genetics, 45, (7), 425-431. (doi:10.1136/jmg.2007.056556).

Antoniou, A.C., Kartsonaki, C. and Sinilnikova, O.M. et al. (2011) Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 20, (16), 3304-3321. (doi:10.1093/hmg/ddr226).

Antoniou, A.C., Pharoah, P.D., Narod, S., Risch, H.A., Eyfjord, J.E., Hopper, J.L., Olsson, H., Johannsson, O., Borg, A., Pasini, B., Radice, P., Manoukian, S., Eccles, D.M., Tang, N., Olah, E., Nton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tulinius, H., Thorlacius, S., Eerola, H., Nevanlinna, H., Syrjakoski, K., Kallioniemi, O.P., Thompson, D., Evans, C., Peto, J., Lalloo, F., Evans, D.G. and Easton, D.F. (2005) Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. Journal of Medical Genetics, 42, (7), 602-603. (doi:10.1136/jmg.2004.024133).

Antoniou, A.C., Sinilnikova, O.M., McGuffog, L., Healey, S., Nevanlinna, H., Heikkinen, T., Simard, J., Spurdle, A.B., Beesley, J., Chen, X., Neuhausen, S.L., Ding, Y.C., Couch, F.J., Wang, X., Fredericksen, Z., Peterlongo, P., Peissel, B., Bonanni, B., Viel, A., Bernard, L., Radice, P., Szabo, C.I., Foretova, L., Zikan, M., Claes, K., Greene, M.H., Mai, P.L., Rennert, G., Lejbkowicz, F., Andrulis, I.L., Ozcelik, H., Glendon, G., Gerdes, A.M., Thomassen, M., Sunde, L., Caligo, M.A., Laitman, Y., Kontorovich, T., Cohen, S., Kaufman, B., Dagan, E., Baruch, R.G., Friedman, E., Harbst, K., Barbany-Bustinza, G., Rantala, J., Ehrencrona, H., Karlsson, P., Domchek, S.M., Nathanson, K.L., Osorio, A., Blanco, I., Lasa, A., Benitez, J., Hammann, U., Hogervorst, F.B., Rookus, M.A., Collee, J.M., Devilee, P., Ligtenberg, M.J., van der Luijt, R.B., Aalfs, C.M., Waisfisz, Q., Wijnen, J., van Roozendaal, C.E., Peock, S., Cook, M., Frost, D., Oliver, C., Platte, R., Evans, D.G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Cole, T., Hodgson, S., Godwin, A.K., Stoppa-Lyonnet, D., Buecher, B., Leone, M., Bressac-de Paillerets, B., Remenieras, A., Caron, O., Lenoir, G.M., Sevenet, N., Longy, M., Ferrer, S.F., Prieur, F., Goldgar, D., Miron, A., John, E.M., Buys, S.S., Daly, M.B., Hopper, J.L., Terry, M.B., Yassin, Y., Singer, C., Gschwantler-Kaulich, D., Staudigl, C., Hansen, T.O., Barkardottir, R.B., Kirchhoff, T., Pal, P., Kosarin, K., Offit, K., Piedmonte, M., Rodriguez, G.C., Wakeley, K., Boggess, J.F., Basil, J., Schwartz, P.E., Blank, S.V., Toland, A.E., Montagna, M., Casella, C., Imyanitov, E.N., Allavena, A., Schmutzler, R.K., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deissler, H., Fiebig, B., Suttner, C., Schonbuchner, I., Gadzicki, D., Caldes, T., de la Hoya, M., Pooley, J.A., Easton, D.F. and Chenevix-Trench, G. Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, OCGN, HEBON, EMBRACE, GEMO, Breast Cancer Family Registry and CIMBA (2009) Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 18, (22), 4442-4456. (doi:10.1093/hmg/ddp372).

Antony, Dinu, Becker-Heck, Anita, Zariwala, Maimoona A., Schmidts, Miriam, Onoufriadis, Alexandros, Forouhan, Mitra, Wilson, Robert, Taylor-Cox, Theresa, Dewar, Ann, Jackson, Claire, Goggin, Patricia, Loges, Niki T., Olbrich, Heike, Jaspers, Martine, Jorissen, Mark, Leigh, Margaret W., Wolf, Whitney E., Daniels, M. Leigh Anne, Noone, Peader G., Ferkol, Thomas W., Sagel, Scott D., Rosenfeld, Margaret, Rutman, Andrew, Dixit, Abhijit, O'Callaghan, Christopher, Lucas, Jane S., Hogg, Claire, Scambler, Peter J., Emes, Richard D., Chung, Eddie Mk, Shoemark, Amelia, Knowles, Michael R., Omran, Heymut, Mitchison, Hannah M. and Uk10k (2012) Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms. Human Mutation, 34, (3), 462-472. (doi:10.1002/humu.22261). (PMID:23255504).

Apperley, Jane F., Gardembas, Martine, Melo, Junia V., Russell-Jones, Robin, Bain, Barbara J., Baxter, E. Joanna, Chase, Andrew, Chessells, Judith M., Colombat, Marie, Dearden, Claire E., Dimitrijevic, Sandra, Mahon, Francois X., Marin, David, Nikolova, Zariana, Olavarria, Eduardo, Silberman, Sandra, Schultheis, Beate, Cross, Nicholas C.P. and Goldman, John M. (2002) Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. New England Journal of Medicine, 347, (7), 481-487. (doi:10.1182/blood.V98.13.3778).

Aranda, Carlos, Paredes, Javier, Valenzuela, Cristian, Lam, Phyllis and Guillou, Laure (2010) 16S rRNA gene-based molecular analysis of mat-forming and accompanying bacteria covering organically-enriched marine sediments underlying a salmon farm in Southern Chile (Calbuco Island). Gayana, 74, (2), 125-135.

Arhel, Nathalie J., Packham, Graham, Townsend, Paul A., Collard, Tracey J., H-Zadeh, Akram M., Sharp, Adam, Cutress, Ramsey I., Malik, Karim, Hague, Angela, Paraskeva, Chris and Williams, Ann C. (2003) The retinoblastoma protein interacts with Bag-1 in human colonic adenoma and carcinoma derived cell lines. International Journal of Cancer, 106, (3), 364-371. (doi:10.1002/ijc.11257). (PMID:12845674).

Armas, J.B., Pimentel, F., Guyer, P.B., Cooper, C., Pye, S.R. and O'Neill, T.W. (2002) Letter to the Editor. Evidence of geographic variation in the occurrence of Paget's disease. Bone, 30, (4), 649-650. (doi:10.1016/S8756-3282(01)00709-8).

Arshad, S. Hasan, Karmaus, Wilfried, Raza, Abid, Kurukulaaratchy, Ramesh J., Matthews, Sharon M., Holloway, John W., Sadeghnejad, Alireza, Zhang, Hongmei, Roberts, Graham and Ewart, Susan L. (2012) The effect of parental allergy on childhood allergic diseases depends on the sex of the child. Journal of Allergy and Clinical Immunology, 130, (2), 427-434.e6. (doi:10.1016/j.jaci.2012.03.042). (PMID:22607991).

Artigas, María Soler, Loth, Daan W, Wain, Louise V, Gharib, Sina A, Obeidat, Ma'en, Tang, Wenbo, Zhai, Guangju, Zhao, Jing Hua, Smith, Albert Vernon, Huffman, Jennifer E, Albrecht, Eva, Jackson, Catherine M, Evans, David M, Cadby, Gemma, Fornage, Myriam, Manichaikul, Ani, Lopez, Lorna M, Johnson, Toby, Aldrich, Melinda C, Aspelund, Thor, Barroso, Inês, Campbell, Harry, Cassano, Patricia A, Couper, David J, Eiriksdottir, Gudny, Franceschini, Nora, Garcia, Melissa, Gieger, Christian, Gislason, Gauti Kjartan, Grkovic, Ivica, Hammond, Christopher J, Hancock, Dana B, Harris, Tamara B, Ramasamy, Adaikalavan, Heckbert, Susan R, Heliövaara, Markku, Homuth, Georg, Hysi, Pirro G, James, Alan L, Jankovic, Stipan, Joubert, Bonnie R, Karrasch, Stefan, Klopp, Norman, Koch, Beate, Kritchevsky, Stephen B, Launer, Lenore J, Liu, Yongmei, Loehr, Laura R, Lohman, Kurt, Loos, Ruth J F, Lumley, Thomas, Al Balushi, Khalid A, Ang, Wei Q, Barr, R Graham, Beilby, John, Blakey, John D, Boban, Mladen, Boraska, Vesna, Brisman, Jonas, Britton, John R, Brusselle, Guy G, Cooper, Cyrus, Curjuric, Ivan, Dahgam, Santosh, Deary, Ian J, Ebrahim, Shah, Eijgelsheim, Mark, Francks, Clyde, Gaysina, Darya, Granell, Raquel, Gu, Xiangjun, Hankinson, John L, Hardy, Rebecca, Harris, Sarah E, Henderson, John, Henry, Amanda, Hingorani, Aroon D, Hofman, Albert, Holt, Patrick G, Hui, Jennie, Hunter, Michael L, Imboden, Medea, Jameson, Karen A, Kerr, Shona M, Kolcic, Ivana, Kronenberg, Florian, Liu, Jason Z, Marchini, Jonathan, McKeever, Tricia, Morris, Andrew D, Olin, Anna-Carin, Porteous, David J, Postma, Dirkje S, Rich, Stephen S, Ring, Susan M, Rivadeneira, Fernando, Rochat, Thierry, Sayer, Avan Aihie, Sayers, Ian, Sly, Peter D, Smith, George Davey, Sood, Akshay, Starr, John M, Uitterlinden, André G, Vonk, Judith M, Wannamethee, S Goya, Whincup, Peter H, Wijmenga, Cisca, Williams, O Dale, Wong, Andrew, Mangino, Massimo, Marciante, Kristin D, McArdle, Wendy L, Meibohm, Bernd, Morrison, Alanna C, North, Kari E, Omenaas, Ernst, Palmer, Lyle J, Pietiläinen, Kirsi H, Pin, Isabelle, Pola Sbreve Ek, Ozren, Pouta, Anneli, Psaty, Bruce M, Hartikainen, Anna-Liisa, Rantanen, Taina, Ripatti, Samuli, Rotter, Jerome I, Rudan, Igor, Rudnicka, Alicja R, Schulz, Holger, Shin, So-Youn, Spector, Tim D, Surakka, Ida, Vitart, Veronique, Völzke, Henry, Wareham, Nicholas J, Warrington, Nicole M, Wichmann, H-Erich, Wild, Sarah H, Wilk, Jemma B, Wjst, Matthias, Wright, Alan F, Zgaga, Lina, Zemunik, Tatijana, Pennell, Craig E, Nyberg, Fredrik, Kuh, Diana, Holloway, John W, Boezen, H Marike, Lawlor, Debbie A, Morris, Richard W, Probst-Hensch, Nicole, Kaprio, Jaakko, Wilson, James F, Hayward, Caroline, Kähönen, Mika, Heinrich, Joachim, Musk, Arthur W, Jarvis, Deborah L, Gläser, Sven, Järvelin, Marjo-Riitta, Ch Stricker, Bruno H, Elliott, Paul, O'Connor, George T, Strachan, David P, London, Stephanie J, Hall, Ian P, Gudnason, Vilmundur and Tobin, Martin D (2011) Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nature Genetics, 43, (11), 1082-1090. (doi:10.1038/ng.941). (PMID:21946350).

Arya, Anurada D., Wilson, David I., Baralle, Diana and Raponi, Michaela (2014) RBFOX2 protein domains and cellular activities. Biochemical Society Transactions, 42, (4), 1180-1183. (doi:10.1042/BST20140050).

Asby, Daniel J., Arlt, Wiebke and Hanley, Neil A. (2009) The adrenal cortex and sexual differentiation during early human development. Reviews in Endocrine & Metabolic Disorders, 10, (1), 43-49. (doi:10.1007/s11154-008-9098-9).

Asherson, P., Zhou, K., Anney, R.J.L., Franke, B., Buitelaar, J., Ebstein, R., Gill, M., Altink, M., Arnold, R., Boer, F., Brookes, K., Buschgens, C., Butler, L., Cambell, D., Chen, W., Christiansen, H., Feldman, L., Fleischman, K., Fliers, E., Howe-Forbes, R., Goldfarb, A., Heise, A., Gabriëls, I., Johansson, L., Lubetzki, I., Marco, R., Medad, S., Minderaa, R., Mulas, F., Müller, U., Mulligan, A., Neale, B., Rijsdijk, F., Rabin, K., Rommelse, N., Sethna, V., Sorohan, J., Uebel, H., Psychogiou, L., Weeks, A., Barrett, R., Xu, X., Banaschewski, T., Sonuga-Barke, E., Eisenberg, J., Manor, I., Miranda, A., Oades, R.D., Roeyers, H., Rothenberger, A., Sergeant, J., Steinhausen, H-C, Taylor, E., Thompson, M. and Faraone, S.V. (2008) A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16. Molecular Psychiatry, 13, (5), 514-521. (doi:10.1038/sj.mp.4002140).

Ashton, J. J., Wiskin, A. E., Ennis, S., Batra, A., Afzal, N. A. and Beattie, R. M. (2014) Rising incidence of paediatric inflammatory bowel disease (PIBD) in Wessex, Southern England. Archives of Disease in Childhood, 99, (7), 659-664. (doi:10.1136/archdischild-2013-305419).

Asopa, S., Anthony, F.W., Cagampang, F.R.A., Terroni, P.L., Bhattacharya, S., Ohri, S.K. and Hanson, M.A. (2007) Impact on the developmental profile of the murine heart by maternal protein restriction during preganancy. Early Human Development, 83, (Supplement1), p.S87. (doi:10.1016/S0378-3782(07)70186-X).

Asopa, S., Anthony, F.W., Cagampang, F.R.A., Terroni, P.L., Ohri, S.K. and Hanson, M.A. (2006) Elevated BNP expression in mouse offspring left ventricles after protein restriction in utero. Early Human Development, 82, (8), 516-517. (doi:10.1016/j.earlhumdev.2006.06.003).

Asopa, S., Cagampang, F.R., Anthony, F.W., Lanham, S.A., Schneider, J., Ohri, Sunil K. and Hanson, Mark A. (2010) Effect of a low-protein diet during pregnancy on expression of genes involved in cardiac hypertrophy in fetal and adult mouse offspring. Journal of Developmental Origins of Health and Disease, 1, (6), 371-375. (doi:10.1017/S2040174410000541).

Asumalahti, Kati, Veal, Colin, Laitinen, Tarja, Suomela, Sari, Allen, Michael, Elomaa, Outi, Moser, Michael, De Cid, Rafael, Ripatti, Samuli, Vorechovsky, Igor, Marcusson, Jan A., Nakagawa, Hidemi, Lazaro, Conxi, Estivill, Xavier, Capon, Francesca, Novelli, Giuseppe, Saarialho-Kere, Ulpu, Barker, Jonathan, Trembath, Richard and Kere, Juha (2002) Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Human Molecular Genetics, 11, (5), 589-597. (doi:10.1093/hmg/11.5.589).

Aze, T., Ezard, T. H. G., Purvis, A., Coxall, H. K., Stewart, D. R. M., Wade, B. S. and Pearson, P. N. (2013) (Letter) Identifying anagenesis and cladogenesis in the fossil record. Proceedings of the National Academy of Sciences, 110, (32), E2946-E2946. (doi:10.1073/pnas.1307562110).

Baart, E. B, Martini, E., van den Berg, I., Macklon, N. S., Galjaard, R-J. H., Fauser, B. C. J. M. and Van Opstal, D (2006) Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Human Reproduction, 21, (1), 223-233. (doi:10.1093/humrep/dei291). (PMID:16155075).

Baart, Esther B., Martini, Elena, Eijkemans, Marinus J, Van Opstal, Diane, Beckers, Nicole G.M., Verhoeff, Arie, Macklon, Nicholas S. and Fauser, Bart C.J.M. (2007) Milder ovarian stimulation for in-vitro fertilization reduces aneuploidy in the human preimplantation embryo: a randomized controlled trial. Human Reproduction, 22, (4), 980-988. (doi:10.1093/humrep/del484). (PMID:17204525).

Baas, Dominique C., Ho, Lintje, Ennis, Sarah, Merriam, Joanna E., Tanck, Michael W.T., Uitterlinden, André G., de Jong, Paulus T.V.M., Cree, Angela J., Griffiths, Helen L., Rivadeneira, Fernando, Hofman, Albert, van Duijn, Cornelia, Smith, R. Theodore, Barile, Gaetano R., Gorgels, Theo G.M.F., Vingerling, Johannes R., Klaver, Caroline C.W., Lotery, Andrew J., Allikmets, Rando and Bergen, Arthur A.B. (2010) The complement component 5 gene and age-related macular degeneration. Ophthalmology, 117, (3), 500-511. (doi:10.1016/j.ophtha.2009.08.032).

Babbage, Gavin, Garand, Richard, Robillard, Nelly, Zojer, Niklas, Stevenson, Freda K. and Sahota, Surinder S. (2004) Mantle cell lymphoma with t(11;14) and unmutated or mutated VH genes expresses AID and undergoes isotype switch events. Blood, 103, (7), 2795-2798. (doi:10.1182/blood-2003-05-1632).

Babbage, Gavin, Ottensmeier, Christian H., Blaydes, Jeremy, Stevenson, Freda K. and Sahota, Surinder S. (2006) Immunoglobulin heavy chain locus events and expression of activation-induced cytidine deaminase in epithelial breast cancer cell lines. Cancer Research, 66, (8), 3996-4000. (doi:10.1158/0008-5472.CAN-05-3704).

Babister, Jodie C., Tare, Rahul S., Green, David W., Inglis, Stefanie, Mann, Stephen and Oreffo, RRichard O.C. (2008) Genetic manipulation of human mesenchymal progenitors to promote chondrogenesis using “bead-in-bead” polysaccharide capsules. Biomaterials, 29, (1), 58-65. (doi:10.1016/j.biomaterials.2007.09.006). (PMID:17897711).

Bader, Bernhard L., Smyth, Neil, Nedbal, Sabine, Miosge, Nicolai, Baranowsky, Anke, Mokkapati, Sharada, Murshed, Mokkapati and Nischt, Roswitha (2005) Compound genetic ablation of nidogen 1 and 2 causes basement membrane defects and perinatal lethality in mice. Molecular and Cellular Biology, 25, (15), 6846-6856. (doi:10.1128/MCB.25.15.6846-6856.2005).

Baekgaard, Lone, Mikkelsen, Maria D., Sorensen, Danny M., Hegelund, Josefine N., Persson, Daniel P., Mills, Rebecca F., Yang, Zhang, Husted, Søren, Andersen, Jens Peter, Buch-Pedersen, Morten J., Schjoerring, Jan K., Williams, Lorraine E. and Palmgren, Michael G. (2010) A combined zinc/cadmium sensor and zinc/cadmium export regulator in a heavy metal pump. Journal of Biological Chemistry, 285, (41), 31243-31252. (doi:10.1074/jbc.M110.111260). (PMID:20650903).

Bailey, Joanne Louise (2010) Using Hi-Spots to investigate in vitro network dysfunction in Cysteine String Protein α knockout mice. University of Southampton, School of Biological Sciences, Doctoral Thesis , 281pp.

Bailey, Sarah G., Cragg, Mark S. and Townsend, Paul A. (2011) Family friction as ΔNp73 antagonises p73 and p53. International Journal of Biochemistry & Cell Biology, 43, (4), 482-486. (doi:10.1016/j.biocel.2010.12.022). (PMID:21216303).

Bailey, Sarah G., Sanchez-Elsner, Tilman, Stephanou, Anastasis, Cragg, Mark S. and Townsend, Paul A. (2010) Regulating the genome surveillance system: miRNAs and the p53 super family. Apoptosis, 15, (5), 541-552. (doi:10.1007/s10495-010-0456-1).

Baird, J., Osmond, C., Macgregor, A., Snieder, H., Hales, C.N. and Phillips, D.I.W. (2001) Testing the fetal origins hypothesis in twins: the Birmingham twin study. Diabetologia, 44, (1), 33-39. (doi:10.1007/s001250051577).

Bakakos, Petros, Smith, John L., Warner, John O., Vance, Gillian, Moss, Christine T., Hodges, Elizabeth, Lanham, Stuart and Howell, W.Martin (2001) Modification of T-cell receptor Vβ repertoire in response to allergen stimulation in peanut allergy. Journal of Allergy and Clinical Immunology, 107, (6), 1089-1094. (doi:10.1067/mai.2001.114651).

Bakewell, D., Ermolina, I., Morgan, H., Milner, J. and Feldman, Y. (2000) Dielectric relaxation measurements of 12 kbp plasmid DNA. Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 1493, (1-2), 151-158. (doi:10.1016/S0167-4781(00)00176-7). (PMID:10978517).

Bakheet, Ayat (2013) RING finger protein 17 (Rnf17) of Myc/Max/Mxd network: expression and function during mouse reproduction and development. University of Southampton, Biological Sciences, Doctoral Thesis , 276pp.

Bakrania, Preeti, Ugur Iseri, Sibel A., Wyatt, Alexander W., Bunyan, Dave J., Lam, Wayne W.K., Salt, Alison, Ramsay, Jacqueline, Robinson, David O. and Ragge, Nicola K. (2010) Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. American Journal of Medical Genetics Part A, 152A, (5), 1310-1313. (doi:10.1002/ajmg.a.33239).

Bala Tannan, N., Brahmachary, M., Garg, P., Borel, C., Alnefaie, R., Watson, C. T., Thomas, N. S. and Sharp, A. J. (2014) DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation. Human Molecular Genetics, 23, (5), 1224-1236. (doi:10.1093/hmg/ddt553).

Balasubramanian, M., Shield, J.P., Acerini, C.L., Walker, J., Ellard, S., Marchand, M., Polak, M., Vaxillaire, M., Crolla, J.A., Bunyan, D.J., Mackay, D.J. and Temple, I.K. (2010) Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. American Journal of Medical Genetics Part A, 152A, (2), 340-346. (doi:10.1002/ajmg.a.33194).

Balasubramanian, Meena, Barber, John C.K., Collinson, Morag N., Huang, Shuwen, Maloney, Viv K., Bunyan, Dave and Foulds, Nicki (2009) Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. American Journal of Medical Genetics Part A, 149A, (4), 793-797. (doi:10.1002/ajmg.a.32463).

Balasubrarnanian, M., Barber, J.C.K., Collinson, M.N., Huang, S., Maloney, V.K. and Foulds, N. (2007) Inverted duplication of 41.6 Mb of 1q characterised by array CGH and review of distal 1q partial trisomy. Journal of Medical Genetics, 44, pp.S44.

Balbach, Sebastian Thomas, Esteves, Telma Cristina, Houghton, Franchesca Dawn, Siatkowski, Marcin, Pfeiffer, Martin Johannes, Tsurumi, Chizuko, Kanzler, Benoit, Fuellen, Georg and Boiani, Michele (2012) Nuclear reprogramming: kinetics of cell cycle and metabolic progression as determinants of success. PLoS ONE, 7, (4), e35322. (doi:10.1371/journal.pone.0035322).

Ball, Rachel J., Green, Philip S., Gale, Nittaya, Langley, G. John and Brown, Tom (2010) Peptide nucleic acid probes with charged photocleavable mass markers: towards PNA-based MALDI-TOF MS genetic analysis. Artificial DNA: PNA & XNA, 1, (1), 27-35. (doi:10.4161/adna.1.1.12199).

Ballestar, Esteban, Pérez, Cristina, Martínez-Calle, Nicolas, Martín-Subero, José Ignacio, Segura, Victor, Delabesse, Eric, Fernandez-Mercado, Marta, Garate, Leire, Alvarez, Sara, Rifon, José, Varea, Sara, Boultwood, Jacqueline, Wainscoat, James S., Cigudosa, Juan Cruz, Calasanz, María José, Cross, Nicholas C. P., Prósper, Felipe and Agirre, Xabier (2012) TET2 mutations are associated with specific 5-methylcytosine and 5-hydroxymethylcytosine profiles in patients with chronic myelomonocytic leukemia. PLoS ONE, 7, (2), e31605. (doi:10.1371/journal.pone.0031605).

Ballingall, Keith T., Waibochi, Lillian, Holmes, Edward C., Woelk, Christipher H., MacHugh, Niall D., Lutje, Vittoria and McKeever, Declan J. (2001) The CD45 locus in cattle: allelic polymorphism and evidence for exceptional positive natural selection. Immunogenetics, 52, (3-4), 276-283. (doi:10.1007/S002510000276). (PMID:11220630).

Bamiou, Doris-Eva, Campbell, Nicole G., Musiek, Frank E., Taylor, Rachael, Chong, W.K., Moore, Anthony, van Heyningen, Veronica, Free, Samantha, Sisodiya, Sanjay and Luxon, Linda M. (2007) Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. International Journal of Audiology, 46, (4), 196-202. (doi:10.1080/14992020601175952).

Bamiou, Doris-Eva, Campbell, Nicole G., Musiek, Frank E., Taylor, Rachael, Chong, W.K., Moore, Anthony, van Heyningen, Veronica, Free, Samantha, Sisodiya, Sanjay and Luxon, Linda M. (2007) Auditory and verbal working memory deficits in a child with congenital aniridia due to PAX6 mutation. Deficiencias en la memoria auditiva y verbal de un niño con aniridia congénita debida a una mutación en el PAX6. International Journal of Audiology, 46, (4), 196-202. (doi:10.1080/14992020601175952).

Bandy, Thomas J., Brewer, Ashley, Burns, Jonathan R., Marth, Gabriella, Nguyen, ThaoNguyen and Stulz, Eugen (2011) DNA as supramolecular scaffold for functional molecules: progress in DNA nanotechnology. Chemical Society Reviews, 40, (1), 138-148. (doi:10.1039/b820255a). (PMID:20694258).

Banka, Siddharth, Howard, Emma, Bunstone, Sancha, Chandler, Kate E., Kerr, Bronwyn, Lachlan, Katherine, McKee, Shane, Mehta, Sarju G., Tavares, Ana Lisa Taylor, Tolmie, John and Donnai, Dian (2013) MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. Clinical Genetics, 83, (5), 467-471. (doi:10.1111/j.1399-0004.2012.01955.x).

Banka, Siddharth, Veeramachaneni, Ratna, Reardon, William, Howard, Emma, Bunstone, Sancha, Ragge, Nicola, Parker, Michael J, Crow, Yanick J, Kerr, Bronwyn, Kingston, Helen, Metcalfe, Kay, Chandler, Kate, Magee, Alex, Stewart, Fiona, McConnell, Vivienne P M, Donnelly, Deirdre E, Berland, Siren, Houge, Gunnar, Morton, Jenny E, Oley, Christine, Revencu, Nicole, Park, Soo-Mi, Davies, Sally J, Fry, Andrew E, Lynch, Sally Ann, Gill, Harinder, Schweiger, Susann, Lam, Wayne W K, Tolmie, John, Mohammed, Shehla N, Hobson, Emma, Smith, Audrey, Blyth, Moira, Bennett, Christopher, Vasudevan, Pradeep C, García-Miñaúr, Sixto, Henderson, Alex, Goodship, Judith, Wright, Michael J, Fisher, Richard, Gibbons, Richard, Price, Susan M, C de Silva, Deepthi, Temple, I Karen, Collins, Amanda L, Lachlan, Katherine, Elmslie, Frances, McEntagart, Meriel, Castle, Bruce, Clayton-Smith, Jill, Black, Graeme C and Donnai, Dian (2012) How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. European Journal of Human Genetics, 20, (4), 381-388. (doi:10.1038/ejhg.2011.220). (PMID:22126750).

Baple, Emma L., Poole, Rebecca L., Mansour, Sahar, Willoughby, Catherine, Temple, I. Karen, Docherty, Louise E., Taylor, Rohan and Mackay, Deborah J.G. (2011) An atypical case of hypomethylation at multiple imprinted loci. European Journal of Human Genetics, 19, (3), 360-362. (doi:10.1038/ejhg.2010.218). (PMID:21206512).

Baptista, J., Prigmore, E., Gribble, S.M., Jacobs, P.A., Carter, N.P. and Crolla, J.A. (2005) Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals. European Journal of Human Genetics, 13, (11), 1205-1212. (doi:10.1038/sj.ejhg.5201488).

Baralle, D., Baralle, M., Knezevich, A., Cumming, S., Whittaker, J., Monk, E., Treacy, R. and Ffrench-Constant, C. (2004) Correlation of in silico prediction and in vivo effect of mutations in ESEs. Journal of Medical Genetics, 41, pp.S67.

Baralle, D., Mattocks, C., Del Conte, L., Knisievich, A., Whittaker, J., Ffrench-Constant, C., Baralle, F. and Baralle, M. (2002) Molecular pathology of NF1 pre mRNA processing. Journal of Medical Genetics, 39, pp.S82.

Baralle, D., Mattocks, C., Lees, M., Ffrench-Constant, C. and Whittaker, J. (2001) Neurofibromatosis-Noonan Syndrome (NFNS): a molecular and clinical study. Journal of Medical Genetics, 38, pp.S66.

Baralle, D., Mattocks, C., Lees, M., Ffrench-Constant, C. and Whittaker, J. (2001) Neurofibromatosis-Noonan Syndrome (NFNS) - A molecular and clinical study. Journal of Medical Genetics, 38, pp.S66.

Baralle, D., Raponi, M. and Upadhyaya, M. (2006) RNA processing defects in genetic disease. Journal of Medical Genetics, 43, pp.S28.

Baralle, Diana (2010) Novel aspects of alternative splicing. FEBS Journal, 277, (4), 835. (doi:10.1111/j.1742-4658.2009.07518.x).

Baralle, Diana, Lucassen, Anneke and Buratti, Emanuele (2009) Missed threads. The impact of pre-mRNA splicing defects on clinical practice. Embo Reports, 10, (8), 810-816. (doi:10.1038/embor.2009.170).

Baralle, Diana, Mattocks, Chris, Kalidas, Kamini, Elmslie, Frances, Whittaker, Joanne, Lees, Melissa, Ragge, Nicola, Patton, Michael A., Winter, Robin M. and ffrench-Constant, Charles (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). American Journal of Medical Genetics Part A, 119A, (1), 1-8. (doi:10.1002/ajmg.a.20023).

Baralle, M., Baralle, D., De Conti, L., Mattocks, C., Whittaker, J., Knezevich, A., Ffrench-Constant, C. and Baralle, F.E. (2003) Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay. Journal of Medical Genetics, 40, (3), 220-222. (doi:10.1136/jmg.40.3.220).

Baralle, M., Baralle, D., De Conti, L., Mattocks, C., Whittaker, J., Knezevich, A., ffrench-Constant, C. and Baralle, F.E. (2003) Letter to JMG. Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay. Journal of Medical Genetics, 40, (3), 220-222. (doi:10.1136/jmg.40.3.220).

Baralle, Marco, Skoko, Natasa, Knezevich, Anna, De Conti, Laura, Motti, Dario, Bhuvanagiri, Madhuri, Baralle, Diana, Buratti, Emanuele and Baralle, Francisco E. (2006) NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Letters, 580, (18), 4449-4456. (doi:10.1016/j.febslet.2006.07.018).

Barber, J. (2004) Constitutional predisposition to mosaicism. Journal of Medical Genetics, 41, pp.S30.

Barber, J., Hollox, E.J. and Armour, J.A.L. (2001) Amplification of DEFB2 confirmed by MAPH in euchromatic variants of 8p23. Journal of Medical Genetics, 38, pp.S45.

Barber, J., Hollox, E.J. and Armour, J.A.L. (2001) Amplification of DEFB2 confirmed by MAPH in euchromatic variants of 8p23.1. Journal of Medical Genetics, 38, pp.S45.

Barber, J., Maloney, V., Thomas, N.S., Van Zyl, B., Bunyan, D., McCormick, A., Kumar, A. and Liehr, T. (2004) Imbalances of distal 8p: extent, parental origin, predisposition and clinical significance. Journal of Medical Genetics, 41, pp.S21.

Barber, J. C. K., Rodrigues, R., Maloney, V. K., Taborda, F., Rodrigues, M. do C. and Bateman, M. S. (2013) Another family with a euchromatic duplication variant of 9q13-q21.1 Derived from segmentally duplicated pericentromeric euchromatin. Cytogenetic and Genome Research, 141, (4), 64-69. (doi:10.1159/000350870). (PMID:23651944).

Barber, J.C. (2005) Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. Journal of Medical Genetics, 42, (8), 609-629. (doi:10.1136/jmg.2004.026955).

Barber, J.C., Thomas, N.S., Collinson, M.N., Dennis, N.R., Liehr, T., Weise, A., Belitz, B., Pfeiffer, L., Kirchhoff, M., Krag-Olsen, B. and Lundsteen, C. (2005) Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. European Journal of Human Genetics, 13, (3), 283-291. (doi:10.1038/sj.ejhg.5201267).

Barber, J.C.K. (2002) Transmitted imbalances and euchromatic variants. Journal of Medical Genetics, 39, pp.S31.

Barber, J.C.K. (2004) ECARUCA, DECIPHER and CAC: new resources to aid phenotype genotype correlations. Journal of Medical Genetics, 41, pp.S60.

Barber, J.C.K., Brasch-Andersen, C., Maloney, V.K., Huang, S., Bateman, M.S., Graakjaer, J., Heinl, U.D. and Fagerberg, C. (2013) A novel pseudo-dicentric variant of 16p11.2-q11.2 contains Euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q. Cytogenetic and Genome Research, 139, (1), 59-64. (doi:10.1159/000342542).

Barber, J.C.K., Hall, V., Maloney, V.K., Bewes, B., MacDermot, K., Holder, S., Liehr, T., Volleth, M., Huang, S. and White, H.E. (2012) 16p11.2-p21.2 duplication syndrome differentiated from euchromatic variation of 16p11.2 in three new families. European Journal of Human Genetics (Submitted).

Barber, J.C.K., Maloney, V.K., Huang, S., Bunyan, D.J., Cresswell, L., Kinning, E., Benson, A., Cheetham, T., Wyllie, J., Lynch, S.A., Zwolinski, S., Prescoft, L., Crow, Y., Morgan, R. and Hobson, E. (2007) 8p23.1 microduplication syndrome: a novel genomic condition with unexpected complexity revealed by array CGH. Journal of Medical Genetics, 44, pp.S21.

Barber, J.C.K., Thomas, N.S., Collinson, M.N., Dennis, N.R., Liehr, T., Weise, A., Belitz, B., Pfeiffer, L., Kirchhoff, M., Krag-Olsen, B. and Lundsteen, C. (2004) Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Journal of Medical Genetics, 41, S60-S60.

Barber, J.C.K., Thomas, N.S., Collinson, M.N., Dennis, N.R., Liehr, T., Weise, A., Belitz, B., Pfeiffer, L., Kirchhoff, M., Krag-Olsen, B. and Lundsteen, C. (2004) Segmental haplosufficiency: transmitted deletions of 2p12 have no apparent phenotypic consequences. Journal of Medical Genetics, 41, pp.S60.

Barber, J.C.K., Zhang, S., Friend, N., Collins, A.L., Maloney, V.K., Hastings, R., Farren, B., Barnicoat, A., Polityko, A.D., Rumyantseva, N.V., Starke, H. and Ye, S. (2006) Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect. Cytogenetic and Genome Research, 114, (3-4), 351-358. (doi:10.1159/000094225).

Barber, John, Cockwell, A.E., Grant, E., Williams, S., Dunn, R. and Ogilvie, C.M. (2010) Is karyotyping couples experiencing recurrent miscarriage worth the cost? BJOG: An International Journal of Obstetrics & Gynaecology, 117, (7), 885-888. (doi:10.1111/j.1471-0528.2010.02566.x).

Barber, John C.K., Bunyan, Dave, Curtis, Merryl, Robinson, Denise, Morlot, Susanne, Dermitzel, Anette, Liehr, Thomas, Alves, Claudia, Trindade, Joana, Paramos, Ana I., Cooper, Clare, Ocraft, Kevin, Taylor, Emma-Jane and Maloney, Viv K. (2010) 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families. Molecular Cytogenetics, 3, (1) (doi:10.1186/1755-8166-3-3).

Barber, John C.K., Hall, Victoria, Maloney, Viv K., Huang, Shuwen, Roberts, Angharad M., Brady, Angela F., Foulds, Nicki, Bewes, Beverley, Volleth, Marianne, Liehr, Thomas, Mehnert, Karl, Bateman, Mark and White, Helen (2013) 16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2. European Journal of Human Genetics, 21, (2), 182-189. (doi:10.1038/ejhg.2012.144). (PMID:22828807).

Barber, John C.K., Huang, Shuwen, Bateman, Mark S. and Collins, Amanda L. (2011) Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted? American Journal of Medical Genetics Part A, 155, (11), 2807-2815. (doi:10.1002/ajmg.a.34241). (PMID:21965044).

Barber, John C.K., Maloney, Viv, Hollox, Edward J., Stuke-Sontheimer, Annegret, du Bois, Gabi, Daumiller, Eva, Klein-Vogler, Ute, Dufke, Andreas, Armour, John A.L. and Liehr, Thomas (2005) Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. European Journal of Human Genetics, 13, (10), 1131-1136. (doi:10.1038/sj.ejhg.5201475).

Barber, John C.K., Rosenfeld, Jill A., Foulds, Nicola, Laird, Sophie, Bateman, Mark S., Thomas, N. Simon, Baker, Samantha, Maloney, Viv K., Anilkumar, Arayamparambil, Smith, Wendy E., Banks, Valerie, Ellingwood, Sara, Kharbutli, Yara, Mehta, Lakshmi, Eddleman, Keith A., Marble, Michael, Zambrano, Regina, Crolla, John A. and Lamb, Allen N. (2013) 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients. American Journal of Medical Genetics Part A, 161, (3), 487-500. (doi:10.1002/ajmg.a.35767).

Barber, K.E., Martineau, M., Harewood, L., Stewart, M., Cameron, E., Strefford, J.C., Rutherford, S., Allen, T.D., Broadfield, Z.J., Cheung, K.L., Harris, R.L., Jalali, G.R., Moorman, A.V., Robinson, H.M. and Harrison, C.J. (2004) Correspondence. Amplification of the ABL gene in T-cell acute lymphoblastic leukemia. Leukemia, 18, (6), 1153-1156. (doi:10.1038/sj.leu.2403357).

Barber, Kerry E., Ford, Anthony M., Harris, Rachel L., Harrison, Christine J. and Moorman, Anthony V. (2004) MLL translocations with concurrent 3΄ deletions: interpretation of FISH results. Genes, Chromosomes and Cancer, 41, (3), 266-271. (doi:10.1002/gcc.20082).

Barber, L.D., Howarth, M., Bowness, P. and Elliott, T. (2001) The quantity of naturally processed peptides stably bound by HLA-A*0201 is significantly reduced in the absence of tapasin. Tissue Antigens, 58, (6), 363-368. (doi:10.1034/j.1399-0039.2001.580604.x).

Barham, Guy and Clarke, Nicholas M.P. (2008) Genetic regulation of embryological limb development with relation to congenital limb deformity in humans. Journal of Children's Orthopaedics, 2, (1), 1-9. (doi:10.1007/s11832-008-0076-2).

Barisic, Ingeborg, Boban, Ljubica, Greenlees, Ruth, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Braz, Paula, Budd, Judith, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, McDonnell, Bob, Nelen, Vera, Pierini, Anna, Queisser-Wahrendorf, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Tucker, David, Verellen-Dumoulin, Christine and Dolk, Helen (2014) Holt Oram syndrome: a registry-based study in Europe. Orphanet Journal of Rare Diseases, 9, (1), 156. (doi:10.1186/s13023-014-0156-y). (PMID:25344219).

Barisic, Ingeborg, Boban, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Bergman, Jorieke EH, Braz, Paula, Draper, Elizabeth S, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke and Verellen-Dumoulin, Christine (2014) Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. European Journal of Human Genetics (doi:10.1038/ejhg.2014.174). (In Press).

Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Boyd, Patricia A., Draper, Elizabeth S., Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Latos-Bielenska, Anna, McDonnell, Bob, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Queisser-Luft, Annette, Verellen-Dumoulin, Christine, Stone, David and Tenconi, Romano (2013) Fraser syndrome: epidemiological study in a European population. American Journal of Medical Genetics Part A, 161, (5), 1012-1018. (doi:10.1002/ajmg.a.35839). (PMID:23532946).

Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Doray, Berenice, Khoshnood, Babak, Klungsoyr, Kari, McDonnell, Bob, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Queisser-Luft, Annette, Scarano, Gioacchino and Tucker, David (2014) Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. European Journal of Human Genetics, 22, (8), 1026-1033. (doi:10.1038/ejhg.2013.287).

Barker, D.J.P. (2003) The developmental origins of adult disease. European Journal of Epidemiology, 18, (8), 733-736. (doi:10.1023/A:1025388901248).

Barker, D.J.P. (2004) Developmental origins of adult health and disease. Journal of Epidemiology and Community Health, 58, (2), 114-115.

Barker, D.J.P. (2004) The developmental origins of adult disease. Journal of the American College of Nutrition, 23, (6 Suppl), 588S-595S.

Barney, Anna, Martelli, Sandra, Serrurier, A. and Steele, James (2012) Articulatory capacity of Neanderthals, a very recent and human-like fossil hominin. Philosophical Transactions of The Royal Society B: Biological Sciences, 367, (1585), 88-102. (doi:10.1098/rstb.2011.0259 ).

Barry, Sean Pio, Lawrence, Kevin M., McCormick, James, Soond, Surinder M., Hubank, Mike, Eaton, Simon, Sivarajah, Ahila, Scarabelli, Tiziano M., Knight, Richard A., Thiemermann, Christoph, Latchman, David S., Townsend, Paul A. and Stephanou, Anastasis (2010) New targets of urocortin mediated cardioprotection. Journal of Molecular Endocrinology, 45, (2), 69-85. (doi:10.1677/JME-09-0148).

Barry, Seán P. and Townsend, Paul A. (2010) Chapter three - what causes a broken heart? molecular insights into heart failure. International Review of Cell and Molecular Biology, 284, 113-179. (doi:10.1016/S1937-6448(10)84003-1).

Barry, Seán P., Townsend, Paul A., Knight, Richard A., Scarabelli, Tiziano M., Latchman, David S. and Stephanou, Anastasis (2010) STAT3 modulates the DNA damage response pathway. International Journal of Experimental Pathology, 91, (6), 506-514. (doi:10.1111/j.1365-2613.2010.00734.x).

Barry, Seán P., Townsend, Paul A., Latchman, David S. and Stephanou, Anastasis (2007) Role of the JAK-STAT pathway in myocardial injury. Trends in Molecular Medicine, 13, (2), 82-89. (doi:10.1016/j.molmed.2006.12.002).

Barry, Seán P., Townsend, Paul A., McCormick, James, Knight, Richard A., Scarabelli, Tiziano M., Latchman, David S. and Stephanou, Anastasis (2009) STAT3 deletion sensitizes cells to oxidative stress. Biochemical and Biophysical Research Communications, 385, (3), 324-329. (doi:10.1016/j.bbrc.2009.05.051).

Barton, Sheila J., Crozier, Sarah R., Lillycrop, Karen A., Godfrey, Keith M. and Inskip, Hazel M. (2013) Correction of unexpected distributions of P values from analysis of whole genome arrays by rectifying violation of statistical assumptions. BMC Genomics, 14, 161. (doi:10.1186/1471-2164-14-161). (PMID:23496791).

Barton, Sheila J., Koppelman, Gerard H., Vonk, Judith M., Browning, Claudia A., Nolte, Ilja M., Stewart, Ceri E., Bainbridge, Sue, Mutch, Stacey, Rose-Zerilli, Matthew J., Postma, Dirkje S., Maniatis, Nikolas, Henry, Amanda P., Hall, Ian P., Holgate, Stephen T., Tighe, Patrick, Holloway, John W. and Sayers, Ian (2009) PLAUR polymorphisms are associated with asthma, PLAUR levels, and lung function decline. The Journal of Allergy and Clinical Immunology, 123, (6), 1391-1400. (doi:10.1016/j.jaci.2009.03.014).

Bastie, J.N., Garcia, I., Terre, C., Cross, N.C., Mahon, F.X. and Castaigne, S. (2004) Lack of response to imatinib mesylate in a patient with accelerated phase myeloproliferative disorder with rearrangement of the platelet-derived growth factor receptor beta-gene. Haematologica, 89, (10), 1263-1264.

Bateman, Adrian C. and Howell, W. Martin (2004) Genetic polymorphism, the immune response and chronic pancreatitis. In, Johnson, C.D. (ed.) Pancreatic Disease: Basic Science and Clinical Management. London, UK, Springer, 306-318.

Bateman, Mark S., Mehta, Sarju G., Willatt, Lionel, Selkirk, Elizabeth, Bedwell, Clare, Zwolinski, Simon, Sparnon, Leeanne, Simonic, Ingrid, Abbott, Kristin and Barber, John C.K. (2010) A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect. American Journal of Medical Genetics Part A, 152A, (7), 1764-1769. (doi:10.1002/ajmg.a.33426).

Batten, Carrie A., Clarke, Ian N., Kempster, Sarah L., Oliver, Stefan L., Bridger, Janice C. and Lambden, Paul R. (2006) Characterization of a cross-reactive linear epitope in human genogroup I and bovine genogroup III norovirus capsid proteins. Virology, 356, (1-2), 179-187. (doi:10.1016/j.virol.2006.07.034). (PMID:16934306).

Bearpark, K. (2000) Learning and memory in genetic programming. University of Southampton, School of Engineering Sciences, Doctoral Thesis .

Beer, Phillip A., Jones, Amy V., Bench, Anthony J., Goday-Fernandez, Andrea, Boyd, ElaineM., Vaghela, Krishna J., Erber, Wendy N., Odeh, Bassam, Wright, Christine, McMullin, Mary Frances, Cullis, Jonathan, Huntly, Brian J.P., Harrison, Claire N., Cross, Nicholas C.P. and Green, Anthony R. (2009) Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones. British Journal of Haematology, 144, (6), 904-908. (doi:10.1111/j.1365-2141.2008.07560.x).

Beghé, B., Barton, S., Rorke, S., Peng, Q., Sayers, I., Gaunt, T., Keith, T.P., Clough, J.B., Holgate, S.T. and Holloway, J.W. (2003) Polymorphisms in the interleukin-4 and interleukin-4 receptor α chain genes confer susceptibility to asthma and atopy in a Caucasian population. Clinical and Experimental Allergy, 33, (8), 1111-1117. (doi:10.1046/j.1365-2222.2003.01731.x).

Beghé, B., Padoan, M., Moss, C.T., Barton, S.J., Holloway, J.W., Holgate, S.T., Howell, W.M. and Mapp, C.E. (2004) Lack of association of HLA class I genes and TNF α-308 polymorphism in toluene diisocyanate-induced asthma. Allergy, 59, (1), 61-64. (doi:10.1046/j.1398-9995.2003.00352.x).

Beliakova-Bethell , N., Zhang, J.X., Singhania, A., Lee, V., Terry, V.H., Richman, D.D., Spina, C.A. and Woelk, C.H. (2013) Suberoylanilide hydroxamic acid induces limited changes in the transcriptome of primary CD4(+) T cells. AIDS, 27, (1), 29-37. (doi:10.1097/QAD.0b013e32835b3e26). (PMID:23221426).

Belo, Sérgio R.B., Lagher , Fabíola, Bonatto, Sandro J., Naliwaiko, Katya, Calder, Philip C., Nunes, Everson A. and Fernandes, Luiz C. (2010) Walker-256 tumor growth is inhibited by the independent or associative chronic ingestion of shark liver and fish oil: a response linked by the increment of peritoneal macrophages nitrite production in Wistar rats. Nutrition Research, 30, (11), 770-776. (doi:10.1016/j.nutres.2010.09.015).

Bench, Anthony J., Cross, Nicholas C., Huntly, Brian J.P., Nacheva, Elisabeth P. and Green, Anthony R. (2001) Myeloproliferative disorders. Best Practice and Research Clinical Haematology, 14, (3), 531-551. (doi:10.1053/beha.2001.0153).

Bench, Anthony J., White, Helen E., Foroni, Letizia, Godfrey, Anna L., Gerrard, Gareth, Akiki, Susanna, Awan, Abida, Carter, Ian, Goday-Fernandez, Andrea, Langabeer, Stephen E., Clench, Tim, Clark, Jordan, Evans, Paul A., Grimwade, David, Schuh, Anna, McMullin, Mary F., Green, Anthony R., Harrison, Claire N. and Cross, Nicholas C.P. (2013) Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection ofJAK2V617F and other relevant mutations. British Journal of Haematology, 160, (1), 25-34. (doi:10.1111/bjh.12075).

Benito-Sanz, S., Gorbenko del Blanco, D., Huber, C., Thomas, N.S., Za-Carmona, M., Bunyan, D., Maloney, V., Argente, J., Cormier-Daire, V., Campos-Barros, A. and Heath, K.E. (2006) Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. American Journal of Human Genetics, 79, (2), 409-414. (doi:10.1086/506390).

Benito-Sanz, Sara, Thomas, N. Simon, Huber, Céline, del Blanco, Darya Gorbenko, Aza-Carmona, Miriam, Crolla, John A., Maloney, Vivienne, Argente, Jesús, Campos-Barros, Ángel, Cormier-Daire, Valérie and Heath, Karen E. (2005) A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Léri-Weill dyschondrosteosis. American Journal of Human Genetics, 77, (4), 533-544. (doi:10.1086/449313).

Benko, Sabina, Fantes, Judy A., Amiel, Judy A., Kleinjan, Dirk-Jan, Thomas, Sophie, Ramsay, Jacqueline, Jamshidi, Negar, Essafi, Abdelkader, Heaney, Simon, Gordon, Christopher T., McBride, David, Golzio, Christelle, Fisher, Malcolm, Perry, Paul, Abadie, Véronique, Ayuso, Carmen, Holder-Espinasse, Muriel, Kilpatrick, Nicky, Lees, Melissa M., Picard, Arnaud, Temple, I. Karen, Thomas, Paul, Vazquez, Marie-Paule, Vekemans, Michel, Crollius, Hugues Roest, Hastie, Nicholas D., Munnich, Arnold, Etchevers, Heather C, Pelet, Anna, Farlie, Peter G., FitzPatrick, David R. and Lyonnet, Stanislas (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nature Genetics, 41, (3), 359-364. (doi:10.1038/ng.329).

Bennett, Claire E., Conway, Gerard S., Macpherson, James N., Jacobs, Patricia A. and Murray, Anna (2010) Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Human Reproduction, 25, (5), 1335-1338. (doi:10.1093/humrep/deq058).

Bennett, S.T and Lucassen, Anneke (1996) Identification of insulin gene minisatellites alleles. In, Burke, J.F. (ed.) PCR: Essential techniques. Oxford, GB, John Wiley and Sons, 32-33.

Bentham, Matthew, Foster, Toshana, Christopher, McCormick and Griffin, Stephen (2013) Mutations in hepatitis C virus p7 reduce both the egress and infectivity of assembled particles via impaired proton channel function. Journal of General Virology, 94, (10), 2236-2248. (doi:10.1099/vir.0.054338-0). (PMID:23907396).

Bergann, Anna, Bamberg, Christian, Eder, Katja, Proquitte, Hans, Hartung, John P., Bollmann, Rainer and Kalache, Karim D. (2006) Mid-facial anthropometry in second-trimester fetuses with trisomy 21: a three-dimensional ultrasound study. Prenatal Diagnosis, 26, (2), 158-162. (doi:10.1002/pd.1362).

Berland, Siren, Appelbäck, Mia, Bruland, Ove, Beygo, Jasmin, Buiting, Karin, Mackay, Deborah J.G., Karen Temple, I. and Houge, Gunnar (2013) Evidence for anticipation in Beckwith–Wiedemann syndrome. European Journal of Human Genetics, 21, (12), 1344-1348. (doi:10.1038/ejhg.2013.71). (PMID:23572028).

Berney, H., West, J., Haefele, E., Alderman, J., Lane, W. and Collins, J.K. (2000) A DNA diagnostic biosensor: development, characterisation and performance. Sensors and Actuators B: Chemical, 68, (1-3), 100-108. (doi:10.1016/S0925-4005(00)00468-8).

Bertram, Caroline E. and Hanson, Mark A. (2001) Animal models and programming of the metabolic syndrome. Type 2 diabetes. British Medical Bulletin, 60, 103-121.

Best, K., Draper, E., Kurinczuk, J., Stoianova, S., Tucker, D., Wellesley, D. and Rankin, J. (2014) PPO.17 Is congenital heart disease on the increase in the UK? A register-based study. Archives of Disease in Childhood - Fetal and Neonatal Edition, 99, (Suppl 1), A155-A155. (doi:10.1136/archdischild-2014-306576.457). (PMID:25021105).

Best, Kate E., Addor, Marie-Claude, Arriola, Larraitz, Balku, Eszter, Barisic, Ingeborg, Bianchi, Fabrizio, Calzolari, Elisa, Curran, Rhonda, Doray, Berenice, Draper, Elizabeth, Garne, Ester, Gatt, Miriam, Haeusler, Martin, van Kammen-Bergman, Jorieke, Khoshnood, Babak, Klungsoyr, Kari, Martos, Carmen, Materna-Kiryluk, Anna, Matias Dias, Carlos, McDonnell, Bob, Mullaney, Carmel, Nelen, Vera, O'Mahony, Mary, Queisser-Luft, Annette, Randrianaivo, Hanitra, Rissmann, Anke, Rounding, Catherine, Sipek, Antonin, Thompson, Rosie, Tucker, David, Wellesley, Diana, Zymak-Zakutnia, Natalya and Rankin, Judith (2014) Hirschsprung's disease prevalence in Europe: a register based study. Birth Defects Research Part A Clinical and Molecular Teratology, 100, (9), 695-702. (doi:10.1002/bdra.23269).

Best, O.G., Gardiner, A.C., Davis, Z.A., Tracy, I., Ibbotson, R.E., Majid, A., Dyer, M.J.S. and Oscier, D.G. (2009) Letter to the editor. A subset of Binet stage A CLL patients with TP53 abnormalities and mutated IGHV genes have stable disease. Leukemia, 23, (1), 212-214. (doi:10.1038/leu.2008.260).

Beyzade, Seyyare, Zhang, Shaoli, Wong, Yuk-ki, Day, Ian N.M., Eriksson, Per and Ye, Shu (2003) Influences of matrix metalloproteinase-3 gene variation on extent of coronary atherosclerosis and risk of myocardial infarction. Journal of the American College of Cardiology, 41, (12), 2130-2137. (doi:10.1016/S0735-1097(03)00482-0).

Bhandari, Pradeep, Bateman, Adrian C., Mehta, Raj L., Stacey, Bernard S.F., Johnson, Penny, Cree, Ian A., Di Nicolantonio, Federica and Patel, Praful (2006) Prognostic significance of cyclooxygenase-2 (COX-2) expression in patients with surgically resectable adenocarcinoma of the oesophagus. BMC Cancer, 6, (Article no. 134), 9pp.. (doi:10.1186/1471-2407-6-134).

Bianchi, F., Raponi, M., Piva, F., Viel, A., Bearzi, I., Galizia, E., Bracci, R., Belvederesi, L., Loretelli, C., Brugiati, C., Corradini, F., Baralle, D. and Cellerino, R. (2011) An intronic mutation in MLH1 associated with familial colon and breast cancer. Familial Cancer, 10, (1), 27-35. (doi:10.1007/s10689-010-9371-4). (PMID:20717847).

Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A.J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael and Jackson, Andrew P. (2011) Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nature Genetics, 43, (4), 356-359. (doi:10.1038/ng.775). (PMID:21358632).

Biesecker, Leslie G., Aase, Jon M., Clericuzio, Carol, Gurrieri, Fiorella, Temple, I. Karen and Toriello, Helga (2009) Elements of morphology: standard terminology for the hands and feet. American Journal of Medical Genetics Part A, 149A, (1), 93-127. (doi:10.1002/ajmg.a.32596).

Biggs, Manus J., Richards, R. Geoff, Gadegaard, Nikolaj, Wilkinson, Chris D.W., Oreffo, Richard O. and Dalby, Matthew J. (2009) The use of nanoscale topography to modulate the dynamics of adhesion formation in primary osteoblasts and ERK/MAPK signalling in STRO-1+enriched skeletal stem cells. Biomaterials, 30, (28), 5094-5103. (doi:10.1016/j.biomaterials.2009.05.049). (PMID:19539986).

Bijlsma, E.K., Collins, A., Papa, F.T., Tejada, M.I., Wheeler, P., Peeters, E.A.J., Gijsbers, A.C.J., van de Kamp, J.M., Kriek, M., Losekoot, M., Broekma, A.J., Crolla, J.A., Pollazzon, M., Mucciolo, M., Katzaki, E., Disciglio, V., Ferreri, M.I., Marozza, A., Mencarelli, M.A., Castagnini, C., Dosa, L., Ariani, F., Mari, F., Canitano, R., Hayek, G., Botella, M.P., Gener, B., Mínguez, M., Renieri, A. and Ruivenkamp, C.A.L. (2012) Xq28 duplications including MECP2 in five females: expanding the phenotype to severe mental retardation. European Journal of Medical Genetics, 55, (6-7), 404-413. (doi:10.1016/j.ejmg.2012.02.009).

Bilous, Nadiia, Bomben, Riccardo, Dal Bo, Michele, Capello, Daniela, Forconi, Francesco, Laurenti, Luca, Bertoni, Francesco, Efremov, Dimitar G., Marasca, Roberto, Del Poeta, Giovanni, Martina, Zoya, Kryachouk, Iryna, Dyagil, Iryna, Gaidano, Gianluca, Chumak, Anatoliy, Gattei, Valter and Abramenko, Iryna (2010) Molecular and clinical features of chronic lymphocytic leukemia with stereotyped B-cell receptors in a Ukrainian cohort. Leukemia & Lymphoma, 51, (5), 822-838. (doi:10.3109/10428191003646002). (PMID:20233059).

Birnberg, Tal, Bar-On, Liat, Sapoznikov, Anita, Caton, Michele L., Cervantes-Barragán, Luisa, Makia, Divine, Krautgamer, Rita, Brenner, Ori, Ludewig, Burkhard, Brockschnieder, Damian, Riethmacher, Dieter, Reizis, Boris and Jung, Steffan (2008) Lack of conventional dendritic cells is compatible with normal development and T cell homeostasis, but causes myeloid proliferative syndrome. Immunity, 29, (6), 986-997. (doi:10.1016/j.immuni.2008.10.012). (PMID:19062318).

Birts, C N, Bergman, L M and Blaydes, J P (2011) CtBPs promote mitotic fidelity through their activities in the cell nucleus. Oncogene, 30, 1271-1280. (doi:10.1038/onc.2010.507). (PMID:21057548).

Birts, Charles N., Sanzone, A. Pia, El-Sagheer, Afaf H., Blaydes, Jeremy P., Brown, Tom and Tavassoli, Ali (2014) Transcription of click-linked DNA in human cells. Angewandte Chemie International Edition in English, 53, (9), 2362-2365. (doi:10.1002/anie.201308691). (PMID:24452865).

Bishop, Dorothy V.M., Jacobs, Patricia A., Lachlan, Katherine, Wellesley, Diana, Barnicoat, Angela, Boyd, Patricia A., Fryer, Alan, Middlemiss, Prisca, Smithsom, Sarah, Metcalfe, Kay, Shears, Deborah, Leggett, Victoria, Natiion, Kate and Scerif, Gaia (2011) Autism, language and communication in children with sex chromosome trisomies. Archives of Disease in Childhood (doi:10.1136/adc.2009.179747).

Bishop, Nick, Braillon, Pierre, Burnham, Jon, Cimaz, Rolando, Davies, Justin, Fewtrell, Mary, Hogler, Wolfgang, Kennedy, Kathy, Mäkitie, Outi, Mughal, Zulf, Shaw, Nick, Vogiatzi, Maria, Ward, Kate and Bianchi, Maria Luisa (2008) Dual-energy X-ray aborptiometry assessment in children and adolescents with diseases that may affect the skeleton: the 2007 ISCD pediatric official positions. Journal of Clinical Densitometry, 11, (1), 29-42. (doi:10.1016/j.jocd.2007.12.004). (PMID:18442751).

Bjornsdottir, Unnur S., Holgate, Stephen T., Reddy, Padmalatha S., Hill, Andrew A., McKee, Charlotte M., Csimma, Cristina I., Weaver, Amy A., Legault, Holly M., Small, Clayton G., Ramsey, Renee C., Ellis, Debra K., Burke, Conor M., Thompson, Philip J., Howarth, Peter H., Wardlaw, Andrew J., Bardin, Phillip G., Bernstein, David I., Irving, Louis B., Chupp, Geoffrey L., Bensch, George W., Bensch, Gregory W., Stahlman, Jon E., Karetzky, Monroe, Baker, James , Miller, Rachel L., Goodman, Brad H., Raible, Donald G., Goldman, Samuel J., Miller, Douglas K., Ryan, John L., Dorner, Andrew J., Immermann, Frederick W. and O'Toole, Margot (2011) Pathways activated during human asthma exacerbation as revealed by gene expression patterns in blood. PloS One, 6, (7), e21902-[19pp]. (doi:10.1371/journal.pone.0021902). (PMID:3136489).

Black, S., Teixeira, A.S., Loh, A.X.W., Vinall, L., Holloway, J.W., Hardy, R. and Swallow, D.M. (2009) Contribution of functional variation in the IL13 gene to allergy, hay fever and asthma in the NSHD longitudinal 1946 birth cohort. Allergy, 64, (8), 1172-1178. (doi:10.1111/j.1398-9995.2009.01988.x).

Blackney, Michael James (2010) Characterising the Drosophila extracellular superoxide Dismutase gene. University of Southampton, School of Biological Sciences, Doctoral Thesis , 270pp.

Blakely, Emma L., Yarham, John W., Alston, Charlotte L., Craig, Kate, Poulton, Joanna, Brierley, Charlotte, Park, Soo-Mi, Dean, Andrew, Xuereb, John H., Anderson, Kirstie N., Compston, Alistair, Allen, Chris, Sharif, Saba, Enevoldson, Peter, Wilson, Martin, Hammans, Simon R., Turnbull, Douglass M., McFarland, Robert and Taylor, Robert W. (2013) Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Human Mutation, 34, (9), 1260-1268. (doi:10.1002/humu.22358). (PMID:23696415).

Bleeck, S., Patterson, R.D. and Winter, I.M. (2002) Using genetic algorithms to find the most effective stimulus for sensory neurons. In, British Society of Audiology Short Papers Meeting on Experimental Studies of Hearing and Deafness, Sheffield, UK, 16 - 17 Sep 2002.

Bleeck, S., Patterson, R.D. and Winter, I.M. (2003) Using genetic algorithms to find the most effective stimulus for sensory Neurons. Journal of Neuroscience Methods, 125, (1-2), 73-82. (doi:10.1016/S0165-0270(03)00040-2).

Bliek, Jet, Alders, Marielle, Maas, Saskia M., Oostra, Roelof-Jan, Mackay, Deborah M., van der Lip, Karin, Callaway, Johnatan L., Brooks, Alice, van 't Padje, Sandra, Westerveld, Andries, Leschot, Nico J. and Mannens, Marcel M.A.M. (2009) Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. European Journal of Human Genetics, 17, (12), 1625-1634. (doi:10.1038/ejhg.2009.77).

Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M., De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela, Fischetto, Rita, Lalatta, Faustina, Giordano, Lucio, Ferrari, Paolo, Cubellis, Mara Vittoria, Larizza, Lidia, Temple, I. Karen, Mannens, Marcel M.A.M., Mackay, Deborah J.G. and Riccio, Andrea (2009) Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. European Journal of Human Genetics, 17, (5), 611-619. (doi:10.1038/ejhg.2008.233).

Blyth, M., Foulds, N., Turner, C. and Bunyan, D. (2008) Severe Marfan syndrome due to FBN1 exon deletions. American Journal of Medical Genetics Part A, 146A, (10), 1320-1324. (doi:10.1002/ajmg.a.32229).

Blyth, M., Raponi, M., Treacy, R., Raymond, F.L., Yates, J.R. and Baralle, D. (2010) Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation. Journal of Neurology, Neurosurgery & Psychiatry, 81, (3), 350-352. (doi:10.1136/jnnp.2009.179689).

Blyth, Moira and Baralle, Diana (2011) Anophthalmia in fronto–facial–nasal dysplasia. Clinical Dysmorphology, 20, (2), 73-74. (doi:10.1097/MCD.0b013e328343515c). (PMID:21317770).

Blyth, Moira, Beal, Sarah, Huang, Shuwen, Crolla, John and Foulds, Nicola (2008) A novel 2.43 Mb deletion of 7q11.22-q11.23. American Journal of Medical Genetics Part A, 146A, (24), 3206-3210. (doi:10.1002/ajmg.a.32584).

Blyth, Moira, Huang, Shuwen, Maloney, Viv, Crolla, John A. and Temple, I.Karen (2008) A 2.3Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’. European Journal of Medical Genetics, 51, (6), 672-678. (doi:10.1016/ejmg.2008.09.002).

Blyth, Moira and Lachlan, Katherine (2010) Amniotic bands in paternal half-siblings. Clinical Dysmorphology, 19, (2), 62-64. (doi:10.1097/MCD.0b013e3283365a6a).

Bo, Michele Dal, Secchiero, Paola, Degan, Massimo, Marconi, Daniela, Bomben, Riccardo, Pozzato, Gabriele, Gaidano, Gianluca, Del Poeta, Giovanni, Forconi, Francesco, Zauli, Giorgio and Gattei, Valter (2010) MDM4 (MDMX) is overexpressed in chronic lymphocytic leukaemia (CLL) and marks a subset of p53wild-type CLL with a poor cytotoxic response to Nutlin-3. British Journal of Haematology, 150, (2), 237-239. (doi:10.1111/j.1365-2141.2010.08185.x). (PMID:20507307).

Bocchia, M., Abruzzese, E., Forconi, F., Ippoliti, M., Trawinska, M.M., Pirrotta, M.T., Raspadori, D., Tozzi, M., Gozzetti, A. and Lauria, F. (2006) Letter. Imatinib does not impair specific antitumor T-cell immunity in patients with chronic myeloid leukemia. Leukemia, 20, (1), 142-143. (doi:10.1038/sj.leu.2404029). (PMID:16281064).

Bodamyali, Tulin, Kanczler, Janos M., Millar, Tim M., Stevens, Cliff R. and Blake , David R. (2003) Free radicals in rheumatoid arthritis: Mediators and modulators. In, Packer, Lester, Podda, Maurizio and Fuchs, Jürgen (eds.) Redox-Genome Interactions in Health and Disease. London, GB, Chemical Rubber Company Press, 591-611. (Oxidative Stress and Disease).

Bolton, P.F., Rijsdijk, F., Craig, E., Veltman, M., Thompson, R., Thomas, S., Roberts, S. and Curran, S.R. (2005) Chromosome 15 abnormalities and autistic symptomatology: case - control investigations. In, DeLisi, Lynn E and DePalma, Gail (eds.) Abstracts of the XIII World Congress on Psychiatric Genetics 2005. XIII World Congress on Psychiatric Genetics 2005 , Wiley-Liss, p.S64. (doi:10.1002/ajmg.b.30233).

Bolton, Patrick F., Veltman, Marijcke W.M., Weisblatt, Emma, Holmes, Joanne R., Thomas, Simon N., Youings, Sheila A., Thompson, Russell J., Roberts, Sian E., Dennis, Nicolas R., Browne, Caroline E., Goodson, Sally, Moore, Vanessa and Brown, Josie (2004) Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders. Psychiatric Genetics, 14, (3), 131-137.

Bolton, Patrick Farrar, Dennis, N.R., Browne, C.E., Thomas, N.S., Veltman, M.W.M., Thompson, R.J. and Jacobs, P. (2001) The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. American Journal of Medical Genetics, 105, (8), 675-685. (doi:10.1002/ajmg.1551).

Bolze, A., Mahlaoui, N., Byun, M., Turner, B., Trede, N., Ellis, S.R., Abhyankar, A., Itan, Y., Patin, E., Brebner, S., Sackstein, P., Puel, A., Pickard, c., Abel, L., Quintana-Murci, L., Faust, S.N., Williams, A.P., Baretto, R., Duddridge, M., Kini, U., Pollard, A.J., Gaud, C., Frange, P., Orbach, D., Emile, J.F., Stephan, J.L., Sorensen, R., Plebani, A., Hammarstrom, L., Conley, M.E., Selleri, L. and Casanova, J.L. (2013) Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science, 340, (6135), 976-978. (doi:10.1126/science.1234864). (PMID:23579497).

Bomben, Riccardo, Dal Bo, Michele, Capello, Daniela, Forconi, Francesco, Bertoni, Francesco, Maffei, Rossana, Laurenti, Luca, Rossi, Davide, Zucca, Emanuele, Degan, Massimo, Marasca, Roberto, Efremov, Dimitar G., Del Poeta, Giovanni, Gaidano, Gianluca and Gattei, Valter (2010) IGHD3-3 fails to behave as unfavourable prognostic marker in chronic lymphocytic leukaemia. British Journal of Haematology, 149, (2), 299-302. (doi:10.1111/j.1365-2141.2009.08046.x). (PMID:20064162).

Bomben, Riccardo, Dal Bo, Michele, Capello, Daniela, Forconi, Francesco, Maffei, Rossana, Laurenti, Luca, Rossi, Davide, Del Principe, Maria Ilaria, Zucchetto, Antonella, Bertoni, Francesco, Rossi, Francesca Maria, Bulian, Pietro, Cattarossi, Ilaria, Ilariucci, Fiorella, Sozzi, Elisa, Spina, Valeria, Zucca, Emanuele, Degan, Massimo, Lauria, Francesco, Del Poeta, Giovanni, Efremov, Dimitar G., Marasca, Roberto, Gaidano, Gianluca and Gattei, Valter (2009) Molecular and clinical features of chronic lymphocytic leukaemia with stereotyped B cell receptors: results from an Italian multicentre study. British Journal of Haematology, 144, (4), 492-506. (doi:10.1111/j.1365-2141.2008.07469.x). (PMID:19036101).

Bomben, Riccardo, Dal-Bo, Michele, Benedetti, Dania, Capello, Daniela, Forconi, Francesco, Marconi, Daniela, Bertoni, Francesco, Maffei, Rossana, Laurenti, Luca, Rossi, Davide, Del Principe, Maria Ilaria, Luciano, Fabrizio, Sozzi, Elisa, Cattarossi, Ilaria, Zucchetto, Antonella, Rossi, Francesca Maria, Bulian, Pietro, Zucca, Emanuele, Nicoloso, Milena S., Degan, Massimo, Marasca, Roberto, Efremov, Dimitar G., Del Poeta, Giovanni, Gaidano, Gianluca and Gattei, Valter (2010) Expression of mutated IGHV3-23 genes in chronic lymphocytic leukemia identifies a disease subset with peculiar clinical and biological features. Clinical Cancer Research, 16, (2), 620-628. (doi:10.1158/1078-0432.CCR-09-1638). (PMID:20068100).

Bond, Jacquelyn, Roberts, Emma, Springell, Kelly, Lizarraga, Sophia, Scott, Sheila, Higgins, Julie, Hampshire, Daniel J., Morrison, Ewan E., Leal, G briella F., Silva, Elias O., Costa, Suzana M.R., Baralle, Diana, Raponi, Michela, Karbani, Gulshan, Rashid, Yasmin, Jafri, Hussain, Bennett, Christopher, Corry, Peter, Walsh, Christopher A. and Woods, C. Geoffrey (2005) A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nature Genetics, 37, (4), 353-355. (doi:10.1038/ng1539).

Bonzani , I.C., Campbell, J.J., Knight, M.M., Williams, A., Lee, D.A., Bader, Dan L. and Stevens, M.M. (2012) Dynamic compressive strain influences chondrogenic gene expression in human periosteal cells: a case study. [in special issue: Special Issue on Tissue Engineering] Journal of the Mechanical Behavior of Biomedical Materials, 11, 72-81. (doi:10.1016/j.jmbbm.2011.06.015). (PMID:22658156).

Boonen, Susanne E., Mackay, Deborah J. G., Hahnemann, Johanne M. D., Docherty, Louise E., Grønskov, Karen, Lehmann, Anna, Larsen, Lise G., Haemers, Andreas P., Kockaerts, Yves, Dooms, Lutgarde, Vũ, Dũng Chí, Ngoc, C. T. Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F., Tümer, Zeynep and Temple, I. Karen (2013) Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up. Diabetes Care, 36, (3), 505-512. (doi:10.2337/dc12-0700). (PMID:23150280).

Borel, Christelle, Cheung, Fanny, Stewart, Helen, Koolen, David A., Phillips, Christopher, Thomas, N. Simon, Jacobs, Patricia A., Eliez, Stephan and Sharp, Andrew J. (2012) Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction. Human Genetics, 131, (9), 1519-1524. (PMID:22643917).

Borhis, Gwenoline and Khakoo, Salim I. (2011) NK cell receptors: evolution and diversity. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 15, (9), 787-796. (doi:10.4267/2042/46021).

Borzani, I., Tola, M.R., Caniatti, L., Collins, A., De Santis, G., Luiselli, D., Mamolini, E. and Scapoli, C. (2010) The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population. European Journal of Neurology, 17, (7), 930-938. (doi:10.1111/j.1468-1331.2010.02952.x). (PMID:20192980).

Bouamaied, Imenne, Fendt, Leslie-Anne, Wiesner, Markus, Häussinger, Daniel, Amiot, Nicolas, Thöni, Sandra and Stulz, Eugen (2006) Tetranucleotides as a scaffold for diporphyrin arrays. Pure and Applied Chemistry, 78, (11), 2003-2014. (doi:10.1351/pac200678112003).

Boxmeer, Jolanda C., Smit, Marji, Utomo, Elaine, Romijn, Johannes C., Eijkemans, Marinus J.C., Lindemans, Jan, Laven, Joop S.E., Macklon, Nick S., Steegers, Eric A.P. and Steegers-Theunissen, Regine P.M. (2009) Low folate in seminal plasma is associated with increased sperm DNA damage. Fertility and Sterility, 92, (2), 548-556. (doi:10.1016/j.fertnstert.2008.06.010). (PMID:18722602).

Boyd, K.D., Ross, F.M., Chiecchio, L., Dagrada, G.P., Konn, Z.J., Tapper, W.J., Walker, B.A., Wardell, C.P., Gregory, W.M., Szubert, A.J., Bell, S.E., Child, J.A., Jackson, G.H., Davies, F.E. and Morgan, G.J. (2012) A novel prognostic model in myeloma based on co-segregating adverse FISH lesions and the ISS: analysis of patients treated in the MRC Myeloma IX trial. Leukemia, 26, (2), 349-355. (doi:10.1038/leu.2011.204). (PMID:21836613).

Boyd, Kevin D., Ross, Fiona M., Tapper, William J., Chiecchio, Laura, Dagrada, GianPaolo, Konn, Zoe J., Gonzalez, David, Walker, Brian A., Hockley, Sarah L., Wardell, Christopher P., Gregory, Walter M., Anthony Child, J., Jackson, Graham H., Davies, Faith E. and Morgan, Gareth J. (2011) The clinical impact and molecular biology of del(17p) in multiple myeloma treated with conventional or thalidomide-based therapy. Genes, Chromosomes and Cancer, 50, (10), 765-774. (doi:10.1002/gcc.20899).

Boyd, Kevin D., Ross, Fiona M., Walker, Brian A., Wardell, Christopher P., Tapper, William J., Chiecchio, Laura, Dagrada, Gian Paolo, Konn, Zoe J., Gregory, Walter M., Jackson, Graham H., Child, J. Anthony, Davies, Faith E. and Morgan, Gareth J. NCRI Haematology Oncology Studies Group (2011) Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32.3 as being genes in regions associated with adverse survival. Clinical Cancer Research, 17, (24), 7776-7784. (doi:10.1158/1078-0432.CCR-11-1791). (PMID:21994415).

Boyd, Kevin D., Walker, Brian A., Wardell, Christopher P., Ross, Fiona M., Gregory, Walter M., Davies, Faith E. and Morgan, Gareth J. (2010) High expression levels of the mammalian target of rapamycin inhibitorDEPTORare predictive of response to thalidomide in myeloma. Leukemia and Lymphoma, 51, (11), 2126-2129. (doi:10.3109/10428194.2010.509893).

Boyd, P.A., Armstrong, B., Dolk, H., Botting, B., Pattenden, S., Abramsky, L., Rankin, J., Vrijheid, M. and Wellesley, D. (2005) Congenital anomaly surveillance in England-ascertainment deficiencies in the national system. British Medical Journal, 330, (7481), 1-5. (doi: 10.1136/bmj.38300.665301.3A).

Boyd, Patricia A., Tonks, Ann M., Rankin, Judith, Rounding, Catherine, Wellesley, Dianna and Draper, Elizabeth S. (2011) Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study. Journal of Medical Screening, 18, (1), 2-7. (doi:10.1258/jms.2011.010139). (PMID:21536809).

Boyle, B., McConkey, R., Garne, E., Loane, M., Addor, M.C., Bakker, M.K., Boyd, P.A., Gatt, M., Greenlees, R., Haeusler, M., Klungsøyr, K., Latos-Bielenska, A., Lelong, N., McDonnell, R., Métneki, J., Mullaney, C., Nelen, V., O'Mahony, M., Pierini, A., Rankin, J., Rissmann, A., Tucker, D., Wellesley, D. and Dolk, H. (2013) Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007. BJOG An International Journal of Obstetrics & Gynaecology, 120, (6), 707-716. (doi:10.1111/1471-0528.12146).

Boyle, Eileen M., Proszek, Paula Z., Kaiser, Martin F., Begum, Dil, Dahir, Nasrin, Savola, Suvi, Wardell, Christopher P., Leleu, Xavier, Ross, Fiona M., Chiecchio, Laura, Cook, Gordon, Drayson, Mark T., Owen, Richard G., Ashcroft, John M., Jackson, Graham H., Anthony Child, James, Davies, Faith E., Walker, Brian A. and Morgan, Gareth J. (2015) A molecular diagnostic approach able to detect the recurrent genetic prognostic factors typical of presenting myeloma. Genes Chromosomes and Cancer, 54, (2), 91-98. (doi:10.1002/gcc.22222). (PMID:25287954).

Boyraz, Mehmet, Ulucan, Korkut, Taşkın, Necati, Akçay, Teoman, Flanagan, Sarah E. and Mackay, Deborah J.G. (2013) Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. Journal of Clinical Research in Pediatric Endocrinology, 5, (2), 125-128. (doi:10.4274/Jcrpe.928). (PMID:23748067).

Branford, Susan, Fletcher, Linda, Cross, Nicholas C.P., Müller, Martin C., Hochhaus, Andreas, Kim, Dong-Wook, Radich, Jerald P., Saglio, Giuseppe, Pane, Fabrizio, Kamel-Reid, Suzanne, Wang, Y. Lynn, Press, Richard D., Lynch, Kevin, Rudzki, Zbigniew, Goldman, John M. and Hughes, Timothy (2008) Desirable performance characteristics for BCR-ABL measurement on an international reporting scale to allow consistent interpretation of individual patient response and comparison of response rates between clinical trials. Blood, 112, (8), 3330-3338. (doi:10.1182/blood-2008-04-150680).

Bremond-Gignac, D., Gerard-Blanluet, M., Copin, H., Bitoun, P., Baumann, C., Crolla, J.A., Benzacken, B. and Verloes, A. (2005) Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. American Journal of Medical Genetics Part A, 134, (4), 422-425. (doi:10.1002/ajmg.a.30646).

Breton, Sylvie, Hammar, Katherine, Smith, Peter J.S. and Brown, Dennis (1998) Proton secretion in the male reproductive tract: involvement of Cl--independent HCO-3 transport. AJP Cell Physiology, 275, (4), C1134-C1142. (PMID:9755067).

Brindle, Lucy (2009) Narratives of health protection in families with a late-onset kidney disease: re-defining governmentality and responsibility for health in the era of the 'new' genetics. Sociological Research Online, 14, (5), 23. (doi:10.5153/sro.2060).

Brioli, Annamaria, Boyd, Kevin D., Kaiser, Martin F., Pawlyn, Charlotte, Wu, Ping, Gregory, Walter M., Owen, Roger, Ross, Fiona M., Jackson, Graham H., Cavo, Michele, Davies, Faith E. and Morgan, Gareth J. (2013) Response and biological subtype of myeloma are independent prognostic factors and combine to define outcome after high-dose therapy. British Journal of Haematology, 161, (2), 291-294. (doi:10.1111/bjh.12218).

Brioli, Annamaria, Kaiser, Martin F., Pawlyn, Charlotte, Wu, Ping, Gregory, Walter M., Owen, Roger, Ross, Fiona M., Jackson, Graham H., Cavo, Michele, Davies, Faith E. and Morgan, Gareth J. (2013) Biologically defined risk groups can be used to define the impact of thalidomide maintenance therapy in newly diagnosed multiple myeloma. Leukemia & Lymphoma, 54, (9), 1975-1981. (doi:10.3109/10428194.2012.760736). (PMID:23270579).

Brison, D.R., Houghton, F.D., Falconer, D., Roberts, S.A., Hawkhead, J., Humpherson, P.G., Lieberman, B.A. and Leese, H.J. (2004) Identification of viable embryos in IVF by non-invasive measurement of amino acid turnover. Human Reproduction, 19, (10), 2319-2324. (doi:10.1093/humrep/deh409).

Bristow, I.R. and Theodorou, D. (2010) Olmsted syndrome: a rare cause of palmo-plantar keratoderma. Podiatry Now, 13, (10), 25-27.

Brito-Babapulle, Finella and Cross, Nicholas C.P. (2007) Redefinition of hypereosinophilic disorders based on an analysis of 28 cases of FIP1L1-PDGFRA negative persistent unexplained eosinophilia (PUE) with eosinophil end-organ damage (EEOD). Blood, 110, (11), p.972A.

Broadfield, Z., Martineau, M., Moorman, A.V., Wright, S.L., Bown, N. and Harrison, C.J. (2006) PAX5-ETV6 fusion in acute lymphoblastic leukaemia does not define the dic(9;12). Journal of Medical Genetics, 43, pp.S20.

Brockschnieder, D., Lappe-Siefke, C., Goebbels, S., Boesl, M.R., Nave, K.A. and Riethmacher, D. (2004) Cell depletion due to diphtheria toxin fragment A after Cre-mediated recombination. Molecular and Cellular Biology, 24, (17), 7636-7642. (doi:10.1128/MCB.24.17.7636-7642.2004).

Broder, Graham Richard (2011) The adaption of an encoded microparticle array for multiplexing nucleic acid hybridisation assays. University of Southampton, School of Chemistry, Doctoral Thesis , 225pp.

Broderick, Peter, Chubb, Daniel, Johnson, David C., Weinhold, Niels, Försti, Asta, Lloyd, Amy, Olver, Bianca, Ma, Yussanne P., Dobbins, Sara E., Walker, Brian A., Davies, Faith E., Gregory, Walter A., Child, J. Anthony, Ross, Fiona M., Jackson, Graham H., Neben, Kai, Jauch, Anna, Hoffmann, Per, Mühleisen, Thomas W., Nöthen, Markus M., Moebus, Susanne, Tomlinson, Ian P., Goldschmidt, Hartmut, Hemminki, Kari, Morgan, Gareth J. and Houlston, Richard S. (2011) Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Nature Genetics, 44, (1), 58-61. (doi:10.1038/ng.993).

Brodsky, Alexander S., Fischer, Andrew, Miller, Daniel H., Vang, Souriya, MacLaughlan, Shannon, Wu, Hsin-Tu, Yu, Jovian, Steinhoff, Margaret, Collins, Colin, Smith, Peter J.S., Raphael, Benjamin J. and Brard, Laurent (2014) Expression profiling of primary and metastatic ovarian tumors reveals differences indicative of aggressive disease. PLoS ONE, 9, (4), e94476. (doi:10.1371/journal.pone.0094476).

Broekhuizen, Roelinka, Grimble, Robert F., Howell, W. Martin, Shale, Dennis J., Creutzberg, Eva C., Wouters, Emiel F. and Schols, Annemie M. (2005) Pulmonary cachexia, systemic inflammatory profile, and the interleukin 1ß -511 single nucleotide polymorphism. American Journal of Clinical Nutrition, 82, (5), 1059-1064.

Brooke, E., Lucas, J.S.A., Collins, S.A., Holloway, J.W., Roberts, G., Inskip, H., Godfrey, K.M., Cooper, C. and Pike, K.C. (2014) Infant lung function and wheeze in later childhood in the Southampton Women's Survey. European Respiratory Journal, 43, (3), 919-921. (doi:10.1183/09031936.00131613). (PMID:24585874).

Brookes, K.J., Neale, B., Xu, X., Thapar, A., Gill, M., Langley, K., Hawi, Z., Mill, J., Taylor, E., Franke, B., Chen, W., Ebstein, R., Buitelaar, J., Banaschewski, T., Sonuga-Barke, E., Eisenberg, J., Manor, I., Miranda, A., Oades, R.D., Roeyers, H., Rothenberger, A., Sergeant, J., Steinhausen, H.C., Faraone, S.V. and Asherson, P. (2008) Differential dopamine receptor D4 allele association with ADHD dependent of proband season of birth. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B, (1), 94-99. (doi:10.1002/ajmg.b.30562).

Brookes, K.J., Xu, X., Anney, R., Franke, B., Zhou, K., Chen, Wai, Banaschewski, T., Buitelaar, J., Ebstein, R., Eisenberg, J., Gill, M., Miranda, A., Oades, R.D., Roeyers, H., Rothenberger, A., Sergeant, J., Sonuga-Barke, E., Steinhausen, H.-C., Taylor, E., Faraone, S.V. and Asherson, P. (2008) Association of ADHD with genetic variants in the 5'-region of the dopamine transporter gene: evidence for allelic heterogeneity. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics (doi:10.1002/ajmg.b.30782).

Brouillard, P., Ghassibé, M., Penington, A., Boon, L.M., Dompmartin, A., Temple, I.K., Cordisco, M., Adams, D., Piette, F., Harper, J.I., Syed, S., Boralevi, F., Taïeb, A., Danda, S., Baselga, E., Enjolras, O., Mulliken, J.B. and Vikkula, M. (2005) Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. Journal of Medical Genetics, 42, (2), 13. (doi:10.1136/jmg.2004.024174).

Brown, Nicholas M., Rachwal, Phillip A., Brown, Tom and Fox, Keith R. (2005) Exceptionally slow kinetics of the intramolecular quadruplex formed by the Oxytricha telomeric repeat. Organic & Biomolecular Chemistry, 3, (22), 4153-4157. (doi:10.1039/b511706b). (PMID:16267597).

Browne, C., Dennis, N.R., Temple, I.K. and Joyce, C.A. (2001) High resolution cytogenetic analysis: a more cost effective approach to subtelomere screening? Journal of Medical Genetics, 38, pp.S16.

Browne, C., Strike, P. and Jacobs, P.A. (2002) X chromosome loss and ageing. Journal of Medical Genetics, 39, p.S30.

Bruce, Kimberley D. and Cagampang, Felino R. (2011) Epigenetic priming of the metabolic syndrome. Toxicology Mechanisms and Methods, 21, (4), 353-361. (doi:10.3109/15376516.2011.559370). (PMID:21495873).

Bruce, Kimberley D., Stokes, Aaron, Patel, Nikesh R., Hyde, Kerry, Sadek, Khaled H., Hanson, Mark A., Byrne, Christopher D. and Cagampang, Felino R. (2011) Identification of robust cardiac reference genes in a mouse model of cardiometabolic disease. Journal of Clinical and Experimental Cardiology, 10, (2) (doi:10.4172/2155-9880.1000161).

Bryant, J., Cooper, K., Picot, J., Clegg, A., Roderick, P., Rosenberg, W. and Patch, C. (2008) A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations. Journal of Medical Genetics, 45, (8), 513-518. (doi:10.1136/jmg.2007.055806). (PMID:18310265).

Brümmendorf, Tim H., Ersöz, InciI, Hartmann, Ulrike, Bartolovic, Kerol, Balabanov, Stefan, Wahl, Alexandra, Paschka, Peter, Kreil, Sebastian, Lahaye, Tanja, Berger, Ute, Gschaidmeier, Harald, Bokemeyer, Carsten, Hehlmann, Rüdiger, Dietz, Klaus, Lansdorp, Peter M., Kanz, Lothar and Hochhaus, Andreas (2003) Telomere length in peripheral blood granulocytes reflects response to treatment with imatinib in patients with chronic myeloid leukemia. Blood, 101, (1), 375.

Bugge, Merete, Collins, Andrew, Hertz, Jens Michael, Eiberg, Hans, Lundsteen, Claes, Brandt, Carsten A., Bak, Mads, Hansen, Claus, deLozier, Celia D., Lespinasse, James, Tranebjaerg, Lisbeth, Hahnemann, Johanne M.D., Rasmussen, Kirsten, Bruun-Petersen, Gert, Duprez, Laurence, Tommerup, Niels and Petersen, Michael B. (2007) Non-disjunction of chromosome 13. Human Molecular Genetics, 16, (16), 2004-2010. (doi:10.1093/hmg/ddm148).

Bulian, Pietro, Rossi, Davide, Forconi, Francesco, Del Poeta, Giovanni, Bertoni, Francesco, Zucca, Emanuele, Montillo, Marco, Pozzato, Gabriele, D'Arena, Giovanni, Efremov, Dimitar G, Marasca, Roberto, Lauria, Francesco, Gaidano, Gianluca, Gattei, Valter and Laurenti, Luca (2012) IGHV gene mutational status and 17p deletion are independent molecular predictors in a comprehensive clinical-biological prognostic model for overall survival prediction in chronic lymphocytic leukemia. Journal of Translational Medicine, 10, 18. (doi:10.1186/1479-5876-10-18). (PMID:22289136).

Bullman, H., Lever, M., Robinson, D.O., Mackay, D.J., Holder, S.E. and Wakeling, E.L. (2008) Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. Journal of Medical Genetics, 45, (6), 396-399. (doi:10.1136/jmg.2007.057059).

Bulpitt, Elizabeth A., Baynes, Caroline, Dunning, Alison M., Evans, Philip R., Easton, Douglas F., Ponder, Bruce A J., Gibbs, Roz and Howell, W. Martin (2004) Investigation of interleukin-10 and vascular endothelial growth factor single nucleotide polymorphisms in predisposition to breast cancer. Genes and immunity, 5, (Supplement S1), p.S53. (doi:10.1038/sj.gene.6364085).

Bunting, Karen A., Roe, S. Mark, Headley, Anthony, Brown, Tom, Savva, Renos and Pearl, Laurence H. (2003) Crystal structure of the Escherichia coli dcm very-short-patch DNA repair endonuclease bound to its reaction product-site in a DNA superhelix. Nucleic Acids Research, 31, (6), 1633-1639. (doi:10.1093/nar/gkg273).

Bunyan, D., Brown, T., Wycherley, R., Score, J., Harvey, J.F. and Cross, N.C.P. (2004) MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome patients. Journal of Medical Genetics, 41, pp.S75.

Bunyan, D., Thomas, N.S., Cross, N.C.P. and Harvey, J.F. (2003) Importance of mutation screening in 'false-positive' MLPA cases. Journal of Medical Genetics, 40, pp.S80.

Bunyan, D.J., Eccles, D.M., Sillibourne, J., Wilkins, E., Thomas, N. Simon, Shea-Simonds, J., Duncan, P.J., Curtis, C.E., Robinson, D.O., Harvey, J.F. and Cross, N.C.P. (2004) Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. British Journal of Cancer, 91, (6), 1155-1159. (doi:10.1038/sj.bjc.6602121).

Bunyan, David J., Baker, Kevin R., Harvey, John F. and Thomas, N. Simon (2013) Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect. American Journal of Medical Genetics Part A, 161, (6), 1329-1338. (doi:10.1002/ajmg.a.35919). (PMID:23636926).

Bunyan, David J., Brown, T., Wycherley, R., Score, J. C., Harvey, J. F. and Cross, N. C. P. (2004) MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome. Journal of Medical Genetics, 41, (S75), 1-1.

Bunyan, David J., Bullman, Hilary M.S., Lever, Margaret, Saminathan, Sasi D., Keng, Wee Teik, Araffin, Roziana and Robinson, David O. (2011) Different denaturation rates between methylated and non-methylated genomic DNA can result in allele-specific PCR amplification. Open Journal of Genetics, 2011/01, (02), 13-14. (doi:10.4236/ojgen.2011.12003).

Bunyan, David J. and Robinson, David O. (2008) Multiple de novo mutations in the MECP2 gene. Genetic Testing, 12, (3), 373-375. (doi:10.1089/gte.2008.0012).

Bunyan, David J., Skinner, Alison C., Ashton, Emma J., Sillibourne, Julie, Brown, Tom, Collins, Amanda L., Cross, Nicholas C.P., Harvey, John F. and Robinson, David O. (2007) Simultaneous MLPA-based multiplex point mutation and deletion analysis of the Dystrophin gene. Molecular Biotechnology, 35, (2), 135-140. (doi:10.1007/BF02686108).

Buratti, E., Baralle, M., De Conti, L., Baralle, D., Romano, M., Ayala, Y.M. and Baralle, F.E. (2004) hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes. Nucleic Acids Research, 32, (14), 4224-4236. (doi:10.1093/nar/gkh752).

Buratti, Emanuele and Baralle, Diana (2010) Novel roles of U1 snRNP in alternative splicing regulation. RNA Biology, 7, (4), 412-419. (doi:10.4161/rna.7.4.12153). (PMID:20523112).

Buratti, Emanuele and Baralle, Diana (2012) Exon skipping mutations in neurofibromatosis. Methods in Molecular Biology, 867, 65-76. (doi:10.1007/978-1-61779-767-5_5). (PMID:22454055).

Buratti, Emanuele, Chivers, Martin, Hwang, Gyulin and Vorechovsky, Igor (2011) DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites. Nucleic Acids Research, 39, (Supplement 1), D86-D91. (doi:10.1093/nar/gkq887). (PMID:20929868).

Burdge, G.C., Slater-Jefferies, J.L., Hanson, M.A. and Lillycrop, K.A. (2007) mRNA expression of genes which regulate energy balance in liver, muscle and adipose tissue in male offspring of rats fed diets differing in protein and folic acid contents during pregnancy. Early Human Development, 83, (Supplement 1), S96-S97. (doi:10.1016/S0378-3782(07)70221-9).

Burdge, G.C., Slater-Jefferies, J.L., Hanson, M.A. and Lillycrop, K.A. (2007) Differences in protein and folic acid intake in pregnant rats induce sex-specific changes to the epigenetic regulation of hepatic genes in the adult offspring. Early Human Development, 83, (Supplement 1), pp.S97. (doi:10.1016/S0378-3782(07)70222-0).

Burdge, Graham C., Hoile, Samuel P., Uller, Tobias, Thomas, Nicola A., Gluckman, Peter D., Hanson, Mark A. and Lillycrop, Karen A. (2011) Progressive, transgenerational changes in offspring phenotype and epigenotype following nutritional transition. PLoS ONE, 6, (11), e28282. (doi:10.1371/journal.pone.0028282). (PMID:22140567).

Burdge, Graham C., Lillycrop, Karen A. and Jackson, Alan A. (2009) Nutrition in early life, and risk of cancer and metabolic disease: alternative endings in an epigenetic tale? British Journal of Nutrition, 101, (5), 619-630. (doi:10.1017/S0007114508145883).

Burdge, Graham C., Lillycrop, Karen A., Phillips, Emma S., Slater-Jefferies, Joanne L., Jackson, Alan A. and Hanson, Mark A. (2009) Folic acid supplementation during the juvenile-pubertal period in rats modifies the phenotype and epigenotype induced by prenatal nutrition. Journal of Nutrition, 139, (6), 1054-1060. (doi:10.3945/jn.109.104653).

Burdge, Graham C., Slater-Jefferies, Jo, Torrens, Christopher, Phillips, Emma S., Hanson, Mark A. and Lillycrop, Karen A. (2007) Dietary protein restriction of pregnant rats in the F0 generation induces altered methylation of hepatic gene promoters in the adult male offspring in the F1 and F2 generations. British Journal of Nutrition, 97, (3), 435-439. (doi:10.1017/S0007114507352392).

Burkart, Kristin M., Barton, Sheila J., Holloway, John W., Yang, Ian A., Cakebread, Julie A., Cruikshank, William, Little, Frederic, Jin, Xiaoyi, Farrer, Lindsay A., Clough, Joanne B., Keith, Tim P., Holgate, Stephen, Center, David M. and O'Connor, George T. (2006) Association of asthma with a functional promoter polymorphism in the IL16 gene. Journal of Allergy and Clinical Immunology, 117, (1), 86-91. (doi:10.1016/j.jaci.2005.10.011).

Burke, J.M., Burger, J.C. and Chapman, M.A. (2007) Crop evolution: from genetics to genomics. Current Opinion in Genetics & Development, 17, (6), 525-532. (doi:10.1016/j.gde.2007.09.003).

Burke, G., Hammans, S., Arunachalam, R. and Beeson, D. (2009) A treatable muscle disease. Practical Neurology, 9, (4), 233-236. (doi:10.1136/jnnp.2009.181966).

Burn, J., Bishop, D.T., Chapman, P.D., Elliott, F., Bertario, L., Dunlop, M.G., Eccles, D., Ellis, A., Evans, D.G., Fodde, R., Maher, E.R., Moslein, G., Vasen, H.F.A., Coaker, J., Phillips, R.K.S., Bulow, S. and Mathers, J. C. (2011) A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. Cancer Prevention Research, 4, (5), 655. (doi:10.1158/1940-6207.CAPR-11-0106).

Burns, Chris J., Minger, Stephen L., Hall, Sara, Milne, Helen, Ramracheya, Reshma D., Evans, Nicholas D., Persaud, Shanta J. and Jones, Peter M. (2005) The in vitro differentiation of rat neural stem cells into an insulin-expressing phenotype. Biochemical and Biophysical Research Communications, 326, (3), 570-577. (doi:10.1016/j.bbrc.2004.11.062). (PMID:15596137).

Burns, Jonathan (2012) Functionalised DNA - introducing and applying a versatile porphyrin molecular ruler. University of Southampton, Chemistry, Doctoral Thesis , 309pp.

Burns, Jonathan R., Zekonyte, Jurgita, Siligardi, Giuliano, Hussain, Rohanah and Stulz, Eugen (2011) Directed formation of DNA nanoarrays through orthogonal self-assembly. Molecules, 16, (6), 4912-4922. (doi:10.3390/molecules16064912). (PMID:21677604).

Burns, Jorge S., Blaydes, Jeremy P., Wright, Pat A., Lemoine, Louise, Bond, Jane A., Williams, E. Dillwyn and Wynford-Thomas, D. (1992) Stepwise transformation of primary thyroid epithelial cells by a mutant Ha-ras oncogene: an in vitro model of tumor progression. Molecular Carcinogenesis, 6, (2), 129-139. (doi:10.1002/mc.2940060208).

Burton, H., Cole, T. and Lucassen, A.M. (2012) Genomic medicine: challenges and opportunities for physicians. Clinical Medicine , 12, (5), 416-419. (doi:10.7861/clinmedicine.12-5-416 ). (PMID:23101139).

Bush, Andrew, Chodhari, Rahul, Collins, Nicola F., Copeland, Fiona, Hall, Pippa, Harcourt, Jonny, Hariri, Mohamed, Hogg, Claire, Lucas, Jane, Mitchison, Hannah M., O'Callaghan, Chriatopher and Phillips, Gill (2007) Primary ciliary dyskinesia: current state of the art. Archives of Disease in Childhood, 92, (12), 1136-1140. (doi:10.1136/adc.2006.096958).

Butterworth, Jeffrey R., Cooper, Brian T., Rosenberg, William M., Purkiss, Michael, Jobson, Shirley, Hathaway, Mark, Briggs, David, Howell, W. Martin, Wood, Gordon M., Adams, David H. and Iqbal, Tariq H. (2002) The role of hemochromatosis susceptibility gene mutations in protecting against iron deficiency in celiac disease. Gastroenterology, 123, (2), 444-449. (doi:10.1053/gast.2002.34778).

Buxade, Maria, Parra-Palau, Josep L. and Proud, Christopher G. (2008) The Mnks: MAP kinase-interacting kinases (MAP kinase signal-integrating kinases). Frontiers in Bioscience, (13), 5359-5373. (doi:10.2741/3086). (PMID:18508592).

Böhm, Markus, Wolff, Ilka, Scholzen, Thomas E., Robinson, Samantha J., Healy, Eugene, Luger, Thomas A., Schwarz, Thomas and Schwarz, Agatha (2005) α-Melanocyte-stimulating hormone protects from ultraviolet radiation-induced apoptosis and DNA damage. The Journal of Biological Chemistry, 280, (7), 5795-5802. (doi:10.1074/jbc.M406334200).

Bønnelykke, K., Sleiman, P., Nielsen, K., Kreiner-Møller, E., Mercader, J.M., Belgrave, D., den Dekker, H.T., Husby, A., Sevelsted, A., Faura-Tellez, G., Juel, L., Paternoster , L., Flaaten, R., Mølgaard, A., Smart, D.E., Thomsen, P.F., Bonàs-Guarch, S., Holst, C., Nohr , E.A., Yadav , R., March , M.E., Blicher, T., Lackie, P.M., Jaddoe, V.W.V., Simpson, A., Holloway, J.W., Duijts, L., Custovic, A., Davies, D.E., Torrents, D., Gupta, R., Hollegaard, M.V., Hougaard, D.M., Hakonarsson, H. and Bisgaard, H. (2014) Letter. A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. Nature Genetics, 46, (1), 51-55. (doi:10.1038/ng.2830).

Cabanas, E.D., Boyle, T., Browne, C. and Barber, J. (2003) Two new transmitted imbalances without apparent phenotypic effect. Journal of Medical Genetics, 40, pp.S56.

Cagampang, Felino R. and Bruce, Kimberley D. (2012) The role of the circadian clock system in nutrition and metabolism. British Journal Of Nutrition, 108, (03), 381-392. (doi:10.1017/S0007114512002139).

Cakebread, Julie A., Haitchi, H.-M., Holloway, John W., Powell, Robert M., Keith, Tim, Davies, Donna E. and Holgate, Stephen T. (2004) The role of ADAM33 in the pathogenesis of asthma. Springer Seminars in Immunopathology, 25, (3-4), 361-375. (doi:10.1007/s00281-003-0153-z).

Calahorro, F. and Ruiz-Rubio, M. (2013) Human alpha- and beta-NRXN1 isoforms rescue behavioral impairments of caenorhabditis elegans neurexin-deficient mutants. Genes, Brain, and Behavior, 12, (4), 453-464. (doi:10.1111/gbb.12046). (PMID:23638761).

Calahorro, Fernando, Alejandre, Encarna and Ruiz-Rubio, Manuel (2009) Osmotic avoidance in Caenorhabditis elegans: synaptic function of two genes, orthologues of human NRXN1 and NLGN1, as candidates for autism. Journal of Visualized Experiments, 34, 1616. (doi:10.3791/1616). (PMID:20010541).

Calahorro, Fernando and Ruiz-Rubio, Manuel (2011) Caenorhabditis elegans as an experimental tool for the study of complex neurological diseases: Parkinson's disease, Alzheimer's disease and autism spectrum disorder. Invertebrate Neuroscience, 11, (2), 73-83. (doi:10.1007/s10158-011-0126-1). (PMID:22068627).

Calder, P. C., Grimble, R. F. and Howell, W. M. (2002) Gene polymorphisms, inflammatory diseases and cancer. Proceedings of the Nutrition Society, 61, (4), 447-456. (doi:10.1079/PNS2002186).

Calder, P.C. (2002) Fatty acids and gene expression related to inflammation. Inflammation in Health Disease. Clinical Nutrition: Early Intervention. Nestle Nutrition Workshop Series. Clinical & Performance programme, 7, 19-40. (doi:10.1159/000067510).

Calder, P.C. (2007) Efectos antiinflamatorios y de establizacion de la placa de atheroma de los acidos grasos amega-3. Medicina Clinica Monografias, 8, (3), 25-30.

Calder, Philip C. (2006) Long-chain polyunsaturated fatty acids and inflammation. Scandinavian Journal of Food & Nutrition, 50, (Supplement 2), 54-61. (doi:10.1080/17482970601066389).

Calder, Philip C. (2013) Long chain fatty acids and gene expression in inflammation and immunity. Current Opinion in Clinical Nutrition and Metabolic Care, 16, (4), 425-433. (doi:10.1097/MCO.0b013e3283620616). (PMID:23657154).

Caliebe, A., Richter, J., Ammerpohl, O., Kanber, D., Beygo, J., Bens, S., Haake, A., Juttner, E., Korn, B., Mackay, D. J. G., Martin-Subero, J. I., Nagel, I., Sebire, N. J., Seidmann, L., Vater, I., von Kaisenberg, C. S., Temple, I. K., Horsthemke, B., Buiting, K. and Siebert, R. (2014) A familial disorder of altered DNA-methylation. Journal of Medical Genetics, 51, (6), 407-412. (doi:10.1136/jmedgenet-2013-102149).

Callaghan, M.J., Rockett, K., Banner, C., Haralambous, E., Betts, H., Faust, S., Maiden, M.C.J., Kroll, J. S., Levin, M., Kwiatkowski, D.P. and Pollard, A.J. (2008) Haplotypic diversity in human CEACAM genes: effects on susceptibility to meningococcal disease. Genes and Immunity, 9, (1), 30-37. (doi:10.1038/sj.gene.6364442). (PMID:17960155).

Callaway, Jonathan L.A., Huang, Shuwen, Karampetsou, Evangelia and Crolla, John A. (2014) Perspective on the technical challenges involved in the implementation of array-CGH in prenatal diagnostic testing. Molecular Biotechnology, 56, (4), 312-318. (doi:10.1007/s12033-013-9710-4).

Callaway, Jonathan L.A., Shaffer, Lisa G., Chitty, Lyn S., Rosenfeld, Jill A. and Crolla, John A. (2013) The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenatal Diagnosis, 33, (12), 1119-1123. (doi:10.1002/pd.4209). (PMID:23983223).

Calton, Elizabeth A., Temple, I. Karen, Mackay, Deborah J.G., Lever, Margaret, Ellard, Sian, Flanagan, Sarah E., Davies, Justin H., Hussain, Khalid and Gray, Juliet C. (2013) Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. European Journal of Medical Genetics, 56, (2), 114-117. (doi:10.1016/j.ejmg.2012.12.001). (PMID:23261959).

Calzolari, Elisa, Barisic, Ingeborg, Loane, Maria, Morris, Joan, Wellesley, Diana, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bianchi, Fabrizio, Neville, Amanda J., Budd, Judith L.S., Klungsoyr, Kari, Khoshnood, Babak, McDonnell, Bob, Nelen, Vera, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Tucker, David, Verellen-Dumoulin, Christine, de Walle, Hermien and Garne, Ester (2014) Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population-based registry study. Birth Defects Research Part A Clinical and Molecular Teratology, 100, (4), 270-276. (doi:10.1002/bdra.23240).

Campbell, C., Barber, J.C.K., Latif, G., Sullivan, C.M. and Waters, C.S. (2003) The phenotypic effect of the abnormal cell line in six patients showing mosaicism for a structural chromosome abnormality. Journal of Medical Genetics, 40, pp.S52.

Campbell, Ian G., Allen, James and Eccles, Diana M. (2003) Prohibitin 3' untranslated region polymorphism and breast cancer risk. Cancer Epidemiology Biomarkers & Prevention, 12, 1273-1274.

Camporota, L and Holloway, J. W. (1999) Interleukin-12 and allergic tissue response. Clinical & Experimental Allergy, 29, (10), 1298-1300. (doi:10.1046/j.1365-2222.1999.00694.x). (PMID:10520048).

Canavez, Flavio, Young, Neil T., Guethlein, Lisbeth A., Rajalingam, Raja, Khakoo, Salim I., Shum, Benny P. and Parham, Peter (2001) Comparison of chimpanzee and human leukocyte Ig-like receptor genes reveals framework and rapidly evolving genes. Journal of Immunology, 167, (10), 5786-5794.

Cao, C, Birtwell, S.W., Hogberg, J, Wolff, A., Morgan, H. and Duobg Bang, D. (2011) Surface modification of photoresist SU-8 for low autofluorescence and bioanalytical applications. In, 15th International Conference on Miniaturized Systems for Chemistry and Life Sciences, Seattle, US, 02 - 06 Oct 2011. , 1161-1163.

Capitani, Nagaja, Patrussi, Laura, Trentin, Livio, Lucherini, Orso Maria, Cannizzaro, Enrica, Migliaccio, Enrica, Frezzato, Federica, Gattazzo, Cristina, Forconi, Francesco, Pelicci, Piergiuseppe, Semenzato, Gianpietro and Baldari, Cosima T. (2012) S1P1 expression is controlled by the pro-oxidant activity of p66Shc and is impaired in B-CLL patients with unfavorable prognosis. Blood, 120, (22), 4391-4399. (doi:10.1182/blood-2012-04-425959). (PMID:23033271).

Carayannopoulos, M.O., Potter, K. N., Li, Yong, Natvig, J. B. and Capra, J. D. (2000) Evidence that human immunoglobulin M rheumatoid factors can Be derived from the natural autoantibody pool and undergo an antigen driven immune response in which somatically mutated rheumatoid factors have lower affinities for immunoglobulin G Fc than their germline counterparts. Scandinavian Journal of Immunology, 51, (4), 327-36.

Cariolou, Marios A., Christodoulides, Michael, Manoli, Panayiotis, Kokkofitou, Avgousta and Tsambaos, Dionysios (1996) Novel trinucleotide deletion in Fabry's disease. Human Genetics, 97, (4), 468-470. (doi:10.1007/BF02267068). (PMID:8834244).

Carramolino, Laura, Fuentes, Joana, García-Andrés, Clara, Azcoitia, Valeria, Riethmacher, Dieter and Torres, Miguel (2010) Platelets play an essential role in separating the blood and lymphatic vasculatures during embryonic angiogenesis. Circulation Research, 106, (7), 1197-1201. (doi:10.1161/CIRCRESAHA.110.218073).

Carroll, Christopher J., Suleman, Naushaad, Davidson, Sean M., Faulkes, David J., Diss, James K., Knight, Richard, Stephanou, Anastasis, Latchman, David S. and Townsend, Paul A. (2011) Transgenic overexpression of HSP56 does not result in cardiac hypertrophy nor protect from ischaemia/reperfusion injury. International Journal of Biochemistry & Cell Biology, 43, (1), 74-79. (doi:10.1016/j.biocel.2010.09.020). (PMID:20932935).

Carroll, Michael, Levasseur, Mark, Wood, Chris, Whitaker, Michael, Jones, Keith T. and McDougall, Alex (2003) Exploring the mechanism of action of the sperm-triggered calcium-wave pacemaker in ascidian zygotes. Journal of Cell Science, 116, (24), 4997-5004. (doi:10.1242/10.1242/jcs.00846).

Carter, M., Ross, F.M., Nicholson, J.C., Allibone, R., Balaji, V., Crolla, J.A., Gilbertson, R.J., Perry, R.H., Walker, D.A. and Ellison, D.W. (2001) Analysis of ependymomas using comparative genomic hybridisation. British Journal of Cancer, 85, (S1), p.108. (doi:10.1054/bjoc.2001.1918).

Carter, Simon A., Bryce, Steven D., Munro, Colin S., Healy, Eugene, Bashir, Rumaisa, Weissenbach, Jean, Leblanc-Straceski, Janine, Kucherlapati, Raju, Stevenson, Anthea, Rees, Jonathan L. and Strachan, Tom (1994) Short communication. Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129. Genomics, 24, (2), 378-382. (doi:10.1006/geno.1994.1632). (PMID:7698764).

Case, M., Matheson, E., Minto, L., Hassan, R., Harrison, C., Bown, N., Bailey, S., Vormoor, J., Hall, A. and Irving, J. (2008) Somatic mutation of genes impacting on the RAS-RAF-MEK-ERK pathway is the most common genetic abnormality in childhood acute lymphoblastic leukaemia, is implicated in disease progression and provides a rationale for therapeutic targeting. British Journal of Haematology, 141, (s1), p.5. (doi:10.1111/j.1365-2141.2008.07061.x).

Castori, Marco, Barboni, Luanna, Duncan, Phillipa J., Paradisi, Mauro, Laino, Luigi, Bernardo, Carmelilia, Robinson, David O. and Grammatico, Paolo (2009) Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6. American Journal of Medical Genetics Part A, 149A, (8), 1768-1772. (doi:10.1002/ajmg.a.32960).

Cawood, A.L., Ding, R., Napper, F.L., Young, R., Williams, J., Ward, M., Gudmundsen, O., Payne, S., Vic, H., Shearman, C.P., Ye, S., Gallagher, P.J., Grimble, R.F. and Calder, P.C. (2007) Long-chain n-3 fatty acids enter advanced atherosclerotic plaques and are associated with decreased inflammation and decreased inflammatory gene expression. Proceedings of the Nutrition Society, 66, 1A-13A. (doi:10.1017/S0029665107005733).

Cederholm, T., Persson, M., Andersson, P., Stenvinkel, P., Nordfors, L., Madden, J., Vedin, I., Wretlind, B., Grimble, R.F. and Palmblad, J. (2007) Polymorphisms in cytokine genes influence long-term survival differently in elderly male and female patients. Journal of Internal Medicine, 262, (2), 215-223. (doi:10.1111/j.1365-2796.2007.01803.x).

Cencini, Emanuele, Sozzi, Elisa, Sicuranza, Anna, Fabbri, Alberto, Raspadori, Donatella, Lauria, Francesco and Forconi, Francesco (2011) A pilot monocentric analysis of efficacy and safety of Fludarabine-Campath combination (Flucam) as first line treatment in elderly patients with chronic lymphocytic leukaemia and Tp53 disfunction. British Journal of Haematology, 154, (2), 271-274. (doi:10.1111/j.1365-2141.2011.08602.x). (PMID:21521181).

Cerqueira, Laura, Azevedo, Nuno F., Almeida, Carina, Jardim, Tatiana, Keevil, Charles William and Vieira, Maria J. (2008) DNA mimics for the rapid identification of microorganisms by fluorescence in situ hybridization (FISH). [in special issue: Nucleic Acid Derivatives in Emerging Technologies] International Journal of Molecular Sciences, 9, (10), 1944-1960. (doi:10.3390/ijms9101944). (PMID:19325728).

Chacko, J., Wallis, L., Jones, A., Cross, N.C.P. and Oscier, D.G. (2007) Utility of early screening for JAK2 V617F mutation in patients with erythrocytosis or thrombocytosis in a District General Hospital. British Journal of Haematology, 137, (s1), 80-81. (doi:10.1111/j.1365-2141.2007.06557.x).

Chaise, Coralie, Buchan, Sarah L., Rice, Jason, Marquet, Jeanine, Rouard, Hélène, Kuentz, Mathieu, Vittes, Gisella E., Molinier-Frenkel, Valérie, Farcet, Jean-Pierre, Stauss, Hans J., Delfau-Larue, Marie-Hélène and Stevenson, Freda K. (2008) DNA vaccination induces WT1-specific T-cell responses with potential clinical relevance. Blood, 112, (7), 2956-2964. (doi:10.1182/blood-2008-02-137695). (PMID:18502835).

Chandak, Giriraj R., Ward, Kirsten J., Yajnik, Chittaranjan S., Pandit, Anand N., Bavdekar, Ashish, Joglekar, Charu V., Fall, Caroline H.D., Mohankrishna, P., Wilkin, Terence J., Metcalf, Bradley S., Weedon, Michael N., Frayling, Timothy M. and Hattersley, Andrew T. (2006) Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans. BMC Medical Genetics, 7, (76), 1-6. (doi:10.1186/1471-2350-7-76).

Chapman, M.A. and Burke, J.M. (2006) Polluting gene flow from crops: radishes gone wild. Heredity, 97, (6), 379-380. (doi:10.1038/sj.hdy.6800899).

Chapman, M.A. and Burke, J.M. (2006) Letting the gene out of the bottle: the population genetics of genetically modified crops. New Phytologist, 170, (3), 429-443. (doi:10.1111/j.1469-8137.2006.01710.x).

Chapman, Mark and Burke, John M. (2012) Evidence of selection on fatty acid biosynthetic genes during the evolution of cultivated sunflower. Theoretical and Applied Genetics, 125, (5), 897-907. (doi:10.1007/s00122-012-1881-z).

Chapman, Mark A., Hvala, John, Strever, Jason, Matvienko, Marta, Kozik, Alexander, Michelmore, Richard W., Tang, Shunxue, Knapp, Steven J. and Burke, John M. (2009) Development, polymorphism, and cross-taxon utility of EST-SSR markers from safflower (Carthamus tinctorius L.). Theoretical and Applied Genetics, 120, (1), 85-91. (doi:10.1007/s00122-009-1161-8).

Chapman, M.A. and Burke, J.M. (2007) Genetic divergence and hybrid speciation. Evolution, 61, (7), 1773-1780. (0.1111/j.1558-5646.2007.00134.x).

Chapman, M.A. and Burke, J.M. (2007) DNA sequence diversity and the origin of cultivated safflower (Carthamus tinctorius L.; Asteraceae). BMC Plant Biology, 7, 60-[9pp]. (doi:10.1186/1471-2229-7-60).

Chapman, M.A., Leebens-Mack, J.H. and Burke, J.M. (2008) Positive selection and expression divergence following gene duplication in the sunflower CYCLOIDEA gene family. Molecular Biology and Evolution, 25, (7), 1260-1273. (doi:10.1093/molbev/msn001). (PMID:18390478).

Chapman, M.A., Pashley, C.H., Wenzler, J., Hvala, J., Tang, S., Knapp, S.J. and Burke, J.M. (2008) A genomic scan for selection reveals candidates for genes involved in the evolution of cultivated sunflower (Helianthus annuus). The Plant Cell, 20, (11), 2931-2945. (doi:10.1105/tpc.108.059808). (PMID:19017747).

Chapman, Mark A, Mandel, Jennifer R. and Burke, John M. (2013) Sequence validation of candidates for selectively important genes in sunflower. PLoS ONE, 8, (8), e71941. (doi:10.1371/journal.pone.0071941).

Chapman, Mark A, Tang, Shunxue, Draeger, Dörthe, Nambeesan, Savithri, Shaffer, Hunter, Barb, Jessica G, Knapp, Steven J and Burke, John M (2012) Genetic analysis of floral symmetry in Van Gogh's sunflowers reveals independent recruitment of CYCLOIDEA genes in the Asteraceae. PLoS Genetics, 8, (3), e1002628. (doi:10.1371/journal.pgen.1002628). (PMID:22479210).

Chapple, A., May, Carl and Campion, P. (1996) Predictive and carrier testing of children: professional dilemmas for clinical geneticists. European Journal of Genetics in Society, 2, (2), 28-38.

Chapple, Alison, Campion, Peter and May, Carl (1997) Clinical terminology: anxiety and confusion amongst families undergoing genetic counseling. Patient Education and Counseling, 32, (1-2), 81-91. (doi:10.1016/S0738-3991(97)00065-7).

Chapple, Alison and May, Carl (1996) Genetic knowledge and family relationships two case studies. Health & Social Care in the Community, 4, (3), 165-171. (doi:10.1111/j.1365-2524.1996.tb00061.x).

Chapple, Alison, May, Carl and Campion, Peter (1995) Lay understanding of genetic disease: a British study of families attending a genetic counseling service. Journal of Genetic Counseling, 4, (4), 281-300. (doi:10.1007/BF01408074).

Chapple, Alison, May, Carl and Campion, Peter (1995) Parental guilt: the part played by the clinical geneticist. Journal of Genetic Counseling, 4, (3), 179-191. (doi:10.1007/BF01408408).

Chase, A., Higley, K., Baxter, J.F.E. and Cross, N.C.P. (2003) Testing in-vitro for imatinib sensitivity in BCR-ABL negative myeloproliferative disorders. Blood, 102, (11), pp.658A.

Chase, A., Schultheis, B., Kreil, S., Baxter, J., Hidalgo-Curtis, C., Jones, A., Zhang, L., Grand, F.H., Melo, J.V. and Cross, N.C. (2009) Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1. Leukemia, 23, (2), 358-364. (doi:10.1038/leu.2008.295).

Chase, Alex J. and Newby, Andrew C. (2003) Regulation of matrix metalloproteinase (matrixin) genes in blood vessels: a multi-step recruitment model for pathological remodelling. Journal of Vascular Research, 40, (4), 329-343. (doi:10.1159/000072697).

Chase, Andrew, Bryant, Catherine, Score, Joannah and Cross, Nicholas C. P. (2013) Ponatinib as targeted therapy for FGFR1 fusions associated with the 8p11 myeloproliferative syndrome. Haematologica, 98, (1), 103-106. (doi:10.3324/haematol.2012.066407). (PMID:22875613).

Chase, Andrew and Cross, Nicholas C. (2011) Aberrations of EZH2 in cancer. Clinical Cancer Research, 17, (9), 2613-2618. (doi:10.1158/1078-0432.CCR-10-2156). (PMID:21367748).

Chase, Andrew, Ernst, Thomas, Fiebig, Andreas, Collins, Andrew, Grand, Francis, Erben, Phillip, Reiter, Andreas, Schreiber, Stefan and Cross, Nicholas C.P. (2010) TFG, a target of chromosome translocations in lymphoma and soft tissue tumors, fuses to GPR128 in healthy individuals. Haematologica, 95, (1), 20-26. (doi:10.3324/haematol.2009.011536).

Chase, Andrew, Huntly, Brian. J. P. and Cross, Nicholas. C. P. (2001) Cytogenetics of chronic myeloid leukaemia. Best practice and research.Clinical haematology, 14, (3), 553-571. (doi:10.1053/beha.2001.0154).

Cheah, C.Y., Burbury, K., Apperley, J.F., Huguet, F., Pitini, V., Gardembas, M., Ross, D.M., Forrest, D., Genet, P., Rousselot, P., Patton, N., Smith, G., Dunbar, C.E., Ito, S., Aguiar, R.C.T., Odenike, O., Gimelfarb, A., Cross, N.C.P. and Seymour, J.F. (2014) Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long term remissions with imatinib. Blood, 123, (23), 3574-3577. (doi:10.1182/blood-2014-02-555607). (PMID:24687085).

Cheent, K.S., Jamil, K.M., Cassidy, S., Liu, M., Mbiribindi, B., Mulder, A., Claas, F.H.J., Purbhoo, M.A. and Khakoo, S.I. (2013) Synergistic inhibition of natural killer cells by the nonsignaling molecule CD94. Proceedings of the National Academy of Sciences, 110, (42), 16981-16986 . (doi:10.1073/pnas.1304366110 ).

Cheetham, T. and Davies, J. H. (2014) Investigation and management of short stature. Archives of Disease in Childhood, 99, (8), 767-771. (doi:10.1136/archdischild-2013-304829).

Chellapa, George (2009) Computer simulation of lipids and DNA using a coarse grain methodology. University of Southampton, School of Chemistry, Doctoral Thesis , 191pp.

Chen, L., Velasco Mondragon, H.E., Lazcano-Ponce, E., Collins, A. and Shugart, Y.Y. (2006) Effect of the peroxisome proliferators-activated receptor (PPAR) gamma 3 gene on BMI in 1,210 school students from Morelos, Mexico. Pacific Symposium on Biocomputing, 467-477.

Chen, Lina, Lawlor, Debbie A., Lewis, Sarah J, Yuan, Wei, Abdollahi, Mohammad R., Timpson, Nicholas J., Day, Ian N.M., Ebrahim, Shah, Smith, George Davey and Shugart, Yin Y. (2008) Genetic association study of BDNF in depression: finding from two cohort studies and a meta-analysis. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics , 147B, (6), 814-821. (doi:10.1002/ajmg.b.30686). (PMID:18205169).

Chen, Q., Lu, P., Jones, A.V., Cross, N.C., Silver, R.T. and Wang, Y.L. (2006) Amplification refractory mutation system (ARMS), a highly sensitive and simple PCR assay for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders. Journal of Molecular Diagnostics, 8, (5), p.634.

Chen, Qiaofang, Lu, Pin, Jones, Amy V., Cross, Nicholas C.P., Silver, Richard T. and Wang, Y. Lynn (2007) Amplification refractory mutation system, a highly sensitive and simple polymerase chain reaction assay, for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders. Journal of Molecular Diagnostics, 9, (2), 272-276. (doi:10.2353/jmoldx.2007.060133).

Chen, X.H., Rodriguez, S., Hawe, E., Talmud, P.J., Miller, G.J., Underhill, P., Humphries, S.E. and Day, I.N. (2004) Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses. Human heredity, 57, (3), 142 - 155. (doi:10.1159/000079245).

Chen, Xiao-He, O'Dell, Sandra D. and Day, Ian N.M. (2002) Microplate array diagonal gel electrophoresis for cohort studies of microsatellite loci. Biotechniques, 32, (5), 1080-1089.

Chen, Zhilin, Lambden, Paul R., Lau, Jeshen, Caul, E. Owen and Clarke, Ian N. (2002) Human group C rotavirus: completion of the genome sequence and gene coding assignments of a non-cultivatable rotavirus. Virus Research, 83, (1-2), 179-187. (doi:10.1016/S0168-1702(01)00442-7).

Cheng, Yuanyuan, Wakefield, Matthew, Siddle, Hannah V., Coggill, Penny C., Herbert, Cathy A., Beck, Stephan, Belov, Katherine and Eldridge, Mark D.B. (2009) Isolation and characterization of 10 MHC Class I-associated microsatellite loci in tammar wallaby (Macropus eugenii). Molecular Ecology Resources, 9, (1), 346-349. (doi:10.1111/j.1755-0998.2008.02401.x). (PMID:21564646).

Cheong, Ying, Sadek, Khaled H., Bruce, Kimberley D., Macklon, Nick and Cagampang, Felino R. (2014) Diet-induced maternal obesity alters ovarian morphology and gene expression in the adult mouse offspring. Fertility and Sterility (doi:10.1016/j.fertnstert.2014.06.015).

Cheung, K.S.C., Yamada, N., Tilley, S., Clarke, N.M.P. and Roach, H.I. (2006) Expression of ADAM-TS4 by chondrocytes in osteoarthritis in relation to changes in DNA methylation status. Journal of Bone and Joint Surgery - British Volume, 88, (Supplement III), p.404.

Cheung, Kelvin S. C., Sposito, Nunzia, Stumpf, Patrick S., Wilson, David I., Sanchez-Elsner, Tilman and Oreffo, Richard O. C. (2014) MicroRNA-146a regulates human foetal femur derived skeletal stem cell differentiation by down-regulating SMAD2 and SMAD3. PLoS ONE, 9, (6), e98063. (doi:10.1371/journal.pone.0098063).

Chiecchio, Laura, Dagrada, Gian Paolo, Ibrahim, Aahraf H., Dachs Cabanas, Elizabet, Protheroe, Rebbeca K.M., Stockley, David M., Orchard, Kim H., Cross, Nicholas C.P., Harrison, Christine J. and Ross, Fiona M. on behalf of the UK Myeloma Forum (2009) Timing of acquisition of deletion 13 in plasma cell dyscrasias is dependent on genetic context. Haematologica, 94, (12), 1708-1713. (doi:10.3324/haematol.2009.011064).

Chiecchio, Laura, Dagrada, Gian Paolo, White, Helen E., Townsend, Mark R., Protheroe, Rebecca K.M., Cheung, Kan Luk, Stockley, David M., Orchard, Kim H., Cross, Nicholas C.P., Harrison, Christine J. and Ross, Fiona M. UK Myloma Forum (2009) Frequent upregulation of MYC in plasma cell leukemia. Genes Chromosomes Cancer, 48, (7), 624-636. (doi:10.1002/gcc.20670).

Chigrinova, Ekaterina, Rinaldi, Andrea, Kwee, Ivo, Rossi, Davide, Rancoita, Paola M.V., Strefford, Jonathan C., Oscier, David, Stamatopoulos, Kostas, Papadaki, Theodora, Berger, Francoise, Young, Ken H., Murray, Fiona, Rosenquist, Richard, Greiner, Timothy C., Chan, Wing C., Orlandi, Ester M., Lucioni, Marco, Marasca, Roberto, Inghirami, Giorgio, Ladetto, Marco, Forconi, Francesco, Cogliatti, Sergio, Votavova, Hana, Swerdlow, Steven H., Stilgenbauer, Stephan, Piris, Miguel A., Matolcsy, Andras, Spagnolo, Dominic, Nikitin, Eugene, Zamò, Alberto, Gattei, Valter, Bhagat, Govind, Ott, German, Zucca, Emanuele, Gaidano, Gianluca and Bertoni, Francesco (2013) Two main genetic pathways lead to the transformation of chronic lymphocytic leukemia to Richter Syndrome. Blood (doi:10.1182/blood-2013-03-489518). (PMID:24004666).

Child, N.J.A., Yang, I.A., Pulletz, M.C.K., de Courcy-Golder, K., Andrews, A.-L., Pappachan, V.J. and Holloway, J.W. (2003) Polymorphisms in Toll-like receptor 4 and the systemic inflammatory response syndrome. Biochemical Society Transactions, 31, (3), 652-653.

Chitty, Lyn S., Hill, Melissa, White, Helen, Wright, David and Morris, Stephen (2012) Noninvasive prenatal testing for aneuploidy – ready for prime time? American Journal of Obstetrics & Gynecology, 206, (4), 269-275. (doi:10.1016/j.ajog.2012.02.021). (PMID:22464064).

Chivers Seymour, Kim, Addington-Hall, Julia, Lucassen, Anneke M. and Foster, Claire L. (2010) What facilitates or impedes family communication following genetic testing for cancer risk? a systematic review and meta-synthesis of primary qualitative research. Journal of Genetic Counseling, 19, (4), 330-342. (doi:10.1007/s10897-010-9296-y). (PMID:20379768).

Chivers Seymour, Kimberley-Clair (2013) Talking to relatives about genetic testing for BRCA1/2 and its risk implications: an on-going discussion. University of Southampton, Faculty of Health Sciences, Doctoral Thesis , 366pp.

Christensen, M.B., Lawlor, D.A., Gaunt, T.R., Howell, M.W., Davey Smith, G., Ebrahim, S. and Day, I.N.M. (2006) Genotype of galectin 2 (LGALS2) is associated with insulin-glucose profile in the British Women’s Heart and Health Study. Diabetologia, 49, (4), 673-677. (doi:10.1007/s00125-006-0145-3).

Christensen, Nikolas, Andersen, Helle, Garne, Ester, Wellesley, Diana, Addor, Marie-Claude, Haeusler, Martin, Khoshnood, Babak, Mullaney, Carmel, Rankin, Judith and Tucker, David (2013) Atrioventricular septal defects among infants in Europe: a population-based study of prevalence, associated anomalies, and survival. Cardiology in the Young, 23, (4), 560-567. (doi:10.1017/S1047951112001400).

Christodoulou, K., Wiskin, A.E., Gibson, J., Tapper, W., Willis, C., Afzal, N.A., Upstill-Goddard, R., Holloway, J.W., Simpson, M.A., Beattie, R.M., Collins, A. and Ennis, S. (2013) Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes. Gut, 62, (7), 977-984. (doi:10.1136/gutjnl-2011-301833). (PMID:22543157).

Chubb, Daniel, Weinhold, Niels, Broderick, Peter, Chen, Bowang, Johnson, David C., Försti, Asta, Vijayakrishnan, Jayaram, Migliorini, Gabriele, Dobbins, Sara E., Holroyd, Amy, Hose, Dirk, Walker, Brian A., Davies, Faith E., Gregory, Walter A., Jackson, Graham H., Irving, Julie A., Pratt, Guy, Fegan, Chris, Fenton, James A.L., Neben, Kai, Hoffmann, Per, Nöthen, Markus M., Mühleisen, Thomas W., Eisele, Lewin, Ross, Fiona M., Straka, Christian, Einsele, Hermann, Langer, Christian, Dörner, Elisabeth, Allan, James M., Jauch, Anna, Morgan, Gareth J., Hemminki, Kari, Houlston, Richard S. and Goldschmidt, Hartmut (2013) Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. Nature Genetics, 45, (10), 1221-1225. (doi:10.1038/ng.2733). (PMID:23955597).

Chudley, L., McCann, Katy J., Mander, A., Tjelle, Torunn, Campos-Perez, J., Godeseth, R., Creak, Antonia, Dobbyn, J., Johnson, Bernadette, Bass, Paul, Heath, Catherine, Kerr, Paul, Mathiesen, I., Dearnaley, D., Stevenson, Freda K. and Ottensmeier, C. (2012) DNA fusion-gene vaccination in patients with prostate cancer induces high frequency CD8+ T-cell responses and increases PSA doubling time. Cancer Immunology Immunotherapy, 61, (11), 2161-2170.

Chung, M. and Lotery, A. J. (2002) Genetics update of macular diseases. Ophthalmology clinics of North America, 15, (4), 459-465.

Churbanov, Alexander, Vorechovsky, Igor and Hicks, Chindo (2010) A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements. BMC Bioinformatics, 11, (1), 22-[25pp]. (doi:10.1186/1471-2105-11-22).

Churbanov, Alexander, Vořechovský, Igor and Hicks, Chindo (2009) Computational prediction of splicing regulatory elements shared by Tetrapoda organisms. BMC Genomics, 10, 508. (doi:10.1186/1471-2164-10-508).

Cipriani, V., Leung, H.-T., Plagnol, V., Bunce, C., Khan, J. C., Shahid, H., Moore, A. T., Harding, S. P., Bishop, P. N., Hayward, C., Campbell, S., Armbrecht, A. M., Dhillon, B., Deary, I. J., Campbell, H., Dunlop, M., Dominiczak, A. F., Mann, S. S., Jenkins, S. A., Webster, A. R., Bird, A. C., Lathrop, M., Zelenika, D., Souied, E. H., Sahel, J.-A., Leveillard, T., Cree, A. J., Gibson, J., Ennis, S., Lotery, A. J., Wright, A. F., Clayton, D. G. and Yates, J. R. W. (2012) Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Human Molecular Genetics, 21, (18), 4138-4150. (doi:10.1093/hmg/dds225).

Citterio, Cintia E., Machiavelli, Gloria A., Miras, Mirta B., Gruñeiro-Papendieck, Laura, Lachlan, Katherine, Sobrero, Gabriela, Chiesa, Ana, Walker, Joanna, Muñoz, Liliana, Testa, Graciela, Belforte, Fiorella S., Gonzalez-Sarmiento, Rogelio, Rivolta, Carina M. and Targovnik, Héctor M. (2013) New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism. Molecular and Cellular Endocrinology, 365, (2), 277-291. (doi:10.1016/j.mce.2012.11.002). (PMID:23164529).

Claridge, Andrew (2013) A study of the role of microRNAs in Inflammatory Bowel Disease: the effect of miR-31 dysregulation in the expression of TSLP in Ulcerative Colitis. University of Southampton, Faculty of Medicine, Doctoral Thesis , 323pp.

Clarke, Angus, Richards, Martin, Kerzin-Storrar, Lauren, Halliday, Jane, Young, Mary Anne, Simpson, Sheila A., Featherstone, Katie, Forrest, Karen, Lucassen, Anneke, Morrison, Patrick J., Quarrell, Oliver W.J. and Stewart, Helen (2005) Genetic professionals' reports of nondisclosure of genetic risk information within families. European Journal of Human Genetics, 13, (5), 556-562. (doi:10.1038/sj.ejhg.5201394).

Clarke, I. N. and McCrae, M. A. (1981) A rapid and sensitive method for analysing the genome profiles of field isolates of rotavirus. Journal of Virological Methods, 2, (4), 203-209. (PMID:6262345).

Clarke, I. N. and McCrae, M. A. (1982) Structural analysis of electrophoretic variation in the genome profiles of rotavirus field isolates. Infection and Immunity, 36, (2), 492-497. (PMID:225545).

Clarke, I.N. and Lambden, P.R. (1988) Stable cloning of the amino terminus of the 60k outer membrane protein of Chlamydia trachomatis serovar L1. FEMS Microbiology Letters, 51, (1), 81-85. (doi:10.1111/j.1574-6968.1988.tb02973.x).

Clarke, I.N., Ward, M.E. and Lambden, P.R. (1988) Molecular cloning and sequence analysis of a developmentally regulated cysteine-rich outer membrane protein from Chlamydia trachomatis. Gene, 71, (2), 307-314. (PMID:3066701).

Clarke, Ian N. and Lambden, Paul R. (2000) Organization and expression of calicivirus genes. The Journal of Infectious Diseases, 181, supplement 2, S309-S316. (doi:10.1086/315575). (PMID:10804143).

Clarke-Harris, Rebecca, Wilkin, Terrence, Hosking, Joanna, Pinkney, Jonathan, Jeffery, Alison, Metcalf, Brad, Godfrey, Keith, Voss, Linda, Lillycrop, Karen and Burdge, Graham (2014) Peroxisomal proliferator activated receptor-γ-co-activator-1α promoter methylation in blood at 5–7 years predicts adiposity from 9 to 14 years (EarlyBird 50). Diabetes, 63, (7), 2528-2537. (doi:10.2337/db13-0671). (PMID:24622795 ).

Clarkson, A., Willatt, L., Thomas, N.S., Baralle, D., James, M. and Holden, S. (2004) A female patient with a de novo interstitial duplication of Xp11.2 to Xp11.4: case report. Journal of Medical Genetics, 41, pp.S56.

Clarkson, Graham J.J., Rothwell, Steve D. and Taylor, Gail (2005) End of day harvest extends shelf life. Hortscience, 40, (5), 1431-1435.

Cleal, J.K., Day, P.I., Hanson, M.A. and Lewis, R.M. (2009) Measurement of housekeeping genes in human placenta. Placenta, 30, (11), 1002-1003. (doi:10.1016/j.placenta.2009.09.002).

Cleal, J.K., Day, P.L., Hanson, M.A. and Lewis, R.M. (2010) Sex differences in the mRNA levels of housekeeping genes in human placenta. Placenta, 31, (6), 556-557. (doi:10.1016/j.placenta.2010.03.006). (PMID:20398937).

Cleal, Jane K., Shepherd, James N., Shearer, Jasmine L., Bruce, Kimberley D. and Cagampang, Felino R. (2014) Sensitivity of housekeeping genes in the suprachiasmatic nucleus of the mouse brain to diet and the daily light–dark cycle. Brain Research, 1575, 72-77. (doi:10.1016/j.brainres.2014.05.031).

Clemo, Nadine K., Collard, Tracey J., Southern, Samantha L., Edwards, Kieron D., Moorghen, Moganaden, Packham, Graham, Hague, Angela, Paraskeva, Christos and Williams, Ann C. (2008) BAG-1 is up-regulated in colorectal tumour progression and promotes colorectal tumour cell survival through increased NF-kappa B activity. Carcinogenesis, 29, (4), 849-857. (doi:10.1093/carcin/bgn004).

Clericuzio, Carol, Hingorani, Melanie, Crolla, John A., van Heyningen, Veronica and Verloes, Alain (2011) Clinical utility gene card for: WAGR syndrome. European Journal of Human Genetics, 19, (4) (doi:10.1038/ejhg.2010.220). (PMID:21224893).

Cochran, Duncan A.E., Evans, Caroline A., Blinco, David, Burthem, John, Stevenson, Freda K., Gaskell, Simon J. and Whetton, Anthony D. (2003) Proteomic analysis of chronic lymphocytic leukemia subtypes with mutated or unmutated Ig V(H) genes. Molecular & Cellular Proteomics, 2, (12), 1331-1341. (doi:10.1074/mcp.M300055-MCP200).

Cockwell, A. and Crolla, J.A. (2002) A cytogenetic and fish study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples. Journal of Medical Genetics, 39, pp.S24.

Cockwell, Annette E., Jacobs, Patricia A., Beal, Sarah J. and Crolla, John A. (2003) A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities. Human Genetics, 112, (3), 298-302. (doi:10.1007/s00439-002-0887-z).

Coelho, Tracy, Andreoletti, Gaia, Ashton, James J., Pengelly, Reuben J., Gao, Yifang, RamaKrishnan, Ananth, Batra, Akshay, Beattie, Robert M., Williams, Anthony P. and Ennis, Sarah (2014) Immuno-genomic profiling of patients with inflammatory bowel disease. Inflammatory Bowel Diseases, 20, (10), 1813-1819. (doi:10.1097/MIB.0000000000000174).

Coelho, Vania, Krysov, Sergey, Ghaemmaghami, Amir M., Emara, Mohamed, Potter, Kathleen N., Johnson, Peter, Packham, Graham, Martinez-Pomares, Luisa and Stevenson, Freda K. (2010) Glycosylation of surface Ig creates a functional bridge between human follicular lymphoma and microenvironmental lectins. Proceedings of the National Academy of Sciences of the United States of America, 107, (43), 18587-18592. (doi:10.1073/pnas.1009388107). (PMID:20937880).

Cohen, Nicola R., Hammans, Simon R., Macpherson, James and Nicoll, James A.R. (2011) New neuropathological findings in Unverrichta–Lundborg disease: neuronal intranuclear and cytoplasmic inclusions. Acta Neuropathologica, 121, (3), 421-427. (doi:10.1007/s00401-010-0738-2). (PMID:20721566).

Coldwell, Mark J., deSchoolmeester, Matthew L., Fraser, Graham A., Pickering, Becky M., Packham, Graham and Willis, Anne E. (2001) The p36 isoform of BAG-1 is translated by internal ribosome entry following heat shock. Oncogene, 20, (30), 4095-4100.

Cole, N.J., Hall, T.E., Martin, C.I., Chapman, M.A., Kobiyama, A., Nihei, Y., Watabe, S. and Johnston, I.A. (2004) Temperature and the expression of myogenic regulatory factors (MRFs) and myosin heavy chain isoforms during embryogenesis in the common carp Cyprinus carpio L. Journal of Experimental Biology, 207, (24), 4239-4248. (doi:10.1242/​jeb.01263 ).

Coleman, M.P., Conforti, L., Buckmaster, E.A., Tarlton, A., Ewing, R.M., Brown, M.C., Lyon, M.F. and Perry, V.H. (1998) An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse. Proceedings of the National Academy of Sciences, 95, (17), 9985-9990. (doi:10.1073/pnas.95.17.9985). (PMID:9707587).

Coles, Rhian, Birdsall, Michelle, Wyttenbach, Andreas and Rubinsztein, David C. (2000) 12-O-Tetradecanoyl-phorbol-13-acetate down-regulates the Huntingtin promoter at Spl sites. Neuroreport, 11, (14), 3157-3161.

Collard, T.J., Urban, B.C., Patsos, H.A., Hague, A., Townsend, P.A., Paraskeva, C. and Williams, A. C. (2012) The retinoblastoma protein (Rb) as an anti-apoptotic factor: expression of Rb is required for the anti-apoptotic function of BAG-1 protein in colorectal tumour cells. Cell Death and Disease, 3, (10), e408. (doi:10.1038/cddis.2012.142). (In Press).

Collins, A. (2003) Genetics maps: integration. In, Cooper, David (ed.) Nature Encyclopedia of the Human Genome. London, UK, Nature Publishing Group, 888-891.

Collins, A. (2009) Approaches to the identification of susceptibility genes. Parasite Immunology, 31, (5), 225-233. (doi:10.1111/j.1365-3024.2008.01089.x).

Collins, A., Ennis, S., Taillon-Miller, P., Kwok, P-Y. and Morton, N.E. (2001) Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map. [In Special Issue: SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis]. Human Mutation, 17, (4), 255-262. (doi:10.1002/humu.21).

Collins, A., Ennis, S., Tapper, W. and Morton, N.E. (2000) Mapping oligogenes for atopy and asthma by meta-analysis. Genetics and Molecular Biology, 23, (1), 1-10. (doi:10.1590/S1415-47572000000100001).

Collins, A., Lonjou, C. and Morton, N.E. (1999) Genetic epidemiology of single-nucleotide polymorphisms. Proceedings of the National Academy of Sciences, 96, (26), 15173-15177. (doi:10.1073/pnas.96.26.15173).

Collins, A. and Morton, N. (2007) Genome scanning by composite likelihood. In, Weale, M. (ed.) Genetic Epidemiology II: Latest Developments. London, UK, Henry Stewart Talks. (The Biomedical & Life Sciences Collection).

Collins, Andrew (2009) Allelic association: linkage disequilibrium structure and gene mapping. Molecular Biotechnology, 41, (1), 83-89. (doi:10.1007/s12033-008-9110-3). (PMID:18841501).

Collins, Andrew (2013) Linkage analysis and gene mapping. In, Zvelebil, Marketa J. and Hancock, John M. (eds.) Concise Encyclopaedia of Bioinformatics and Computational Biology 2nd edition. Hoboken, US, John Wiley & Sons. (In Press).

Collins, Andrew (2014) The genomic and functional characteristics of disease genes. Briefings in Bioinformatics (doi:10.1093/bib/bbt091 ). (PMID:24425794).

Collins, Andrew and Lau, Winston (2008) CHROMSCAN: genome-wide association using a linkage disequilibrium map. Journal of Human Genetics, 53, (2), 121-126. (doi:10.1007/s10038-007-0226-2).

Collins, Andrew, Lau, Winston and De La Vega, Francisco (2004) Mapping genes for common diseases: the case for genetic (LD) maps. Human Heredity, 58, (1), 2-9. (doi:10.1159/000081451).

Collins, Andrew R. (2008) Linkage disequilibrium and association mapping: an introduction. In, Collins, Andrew R. (ed.) Linkage Disequilibrium and Association Mapping. Totowa, USA, Humana, 1-15. (Methods in Molecular Biology, 376). (doi:10.1007/978-1-59745-389-9_1).

Collins, J., Diedrich, K., Franks, S., Geraedts, J.P.M., Jacobs, P.A., Karges, B., Kennedy, S., Marozzi, A., Regan, L., Baird, D.T., Crosignani, P.G., Devroey, P., Diczfalusy, E., Evers, J.L.H., Fauser, B.C.J.M., Fraser, L., Gianaroli, L., Glasier, A., Liebaers, I., Ragni, G., Sunde, A., Tarlatzis, B., Van Steirteghem, A. and The ESHRE Capri Workshop Group, The ESHRE Capri Workshop Group (2008) Genetic aspects of female reproduction. Human Reproduction Update, 14, (4), 293-307. (doi:10.1093/humupd/dmn009).

Collins, J.E., Legan, P.K., Kenny, T.P., Macgarvie, J., Holton, J.L. and Garrod, D.R. (1991) Cloning and sequence analysis of desmosomal glycoprotein 2 and 3 cDNAs: cadherin-like desmosomal adhesion molecules with heterogeneous cytoplasmic domains. Journal of Cell Biology, 113, (2), 381-391. (doi:10.1083/jcb.113.2.381).

Collins, J.E., Lorimer, J.E., Garrod, D.R., Pidsley, S.C., Buxton, R.S. and Fleming, T.P. (1995) Regulation of desmocollin transcription in mouse preimplantation embryos. Development, 121, 743-752. (PMID:7536656).

Collins, Jane and Fleming, Tom (1995) Specific mRNA detection in single lineage-marked blastomeres from preimplantation embryos. Trends in Genetics, 11, (1), 5-7. (doi:10.1016/S0168-9525(00)88975-1). (PMID:7900194).

Collins, Louise, Asuni, Ayodeji A., Anderton, Brian H. and Fabre, John W. (2003) Efficient gene delivery to primary neuron cultures using a synthetic peptide vector system. Journal of Neuroscience Methods, 125, (1-2), 113-120. (doi:10.1016/S0165-0270(03)00042-6).

Collins, S.A., Lucas, J.S.A., Inskip, H.M., Godfrey, K.M., Roberts, G., Holloway, J.W. and the Southampton Women’s Survey Study Group, (2013) HHIP, HDAC4, NCR3, and RARB polymorphisms affect fetal, childhood, and adult lung function. European Respiratory Journal, 41, (3), 756-757. (doi:10.1183/09031936.00171712). (PMID:23456936).

Collins, Samuel A., Pike, Katharine C., Inskip, Hazel M., Godfrey, Keith M., Roberts, Graham, Holloway, John W. and Lucas, Jane S.A. (2013) Validation of novel wheeze phenotypes using longitudinal airway function and atopic sensitization data in the first 6 years of life: evidence from the Southampton women's survey. Pediatric Pulmonology, 48, (7), 683-692. (doi:10.1002/ppul.22766).

Collins, Samuel L., Hervé, Rodolphe, Keevil, C.W., Blaydes, Jeremy P. and Webb, Jeremy S. (2011) Down-regulation of DNA mismatch repair enhances initiation and growth of neuroblastoma and brain tumour multicellular spheroids. PLoS ONE, 6, (12), e28123. (doi:10.1371/journal.pone.0028123). (PMID:22145025).

Collinson, M., Leonard, S.J., Charlton, J., Crolla, J.A., Silve, C., Hall, C.M., Oglivie, C., James, M.A. and Smithson, S.F. (2010) Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH. American Journal of Medical Genetics. Part A, 152A, (12), 3124-3128. (doi:10.1002/ajmg.a.33567). (PMID:21082660).

Collinson, M., Roberts, S.E., Crolla, J.A. and Dennis, N.R. (2002) A recombinant chromosome 15 with duplication of the Prader-Willi/Angelman syndrome critical region arising from a familial intrachromosomal insertion, previously described as a paracentric inversion of 15q11-q15. Journal of Medical Genetics, 39, pp.S24.

Colombo, M., Blok, M.J., Whiley, P., Santamarina, M., Gutierrez-Enriquez, S., Romero, A., Garre, P., Becker, A., Smith, L.D., De Vecchi, G., Brandao, R.D., Tserpelis, D., Brown, M., Blanco, A., Bonache, S., Menendez, M., Houdayer, C., Foglia, C., Fackenthal, J.D., Baralle, D., Wappenschmidt, B., Diaz-Rubio, E., Caldes, T., Walker, L., Diez, O., Vega, A., Spurdle, A.B., Radice, P. and de la Hoya, M. (2014) Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Human Molecular Genetics, 23, (14), 3666-3680. (doi:10.1093/hmg/ddu075).

Cook, Alan, Aptel, Nathalie, Portillo, Virginia, Siney, Elodie, Sihota, Rajinder, Holden-Dye, Lindy and Wolstenholme, Adrian (2006) Caenorhabditis elegans ivermectin receptors regulate locomotor behaviour and are functional orthologues of Haemonchus contortus receptors. Molecular and Biochemical Parasitology, 147, (1), 118-125. ( doi:10.1016/j.molbiopara.2006.02.003).

Cooke, Sarah, Crawford, Gillian, Parker, Michael, Lucassen, Anneke and Hallowell, Nina (2008) Recall of participation in research projects in cancer genetics: some implications for research ethics. Clinical Ethics, 3, (4), 180-184. (doi:10.1258/ce.2008.008019).

Cooper, C., Javaid, M.K., Taylor, P., Walker-Bone, K., Dennison, E. and Arden, N. (2002) The fetal origins of osteoporotic fracture. Calcified Tissue International, 70, (5), 391-394. (doi:10.1007/s00223-001-0044-z). (PMID:11960204).

Cope, Natalie, Harold, Denise, Hill, Gary, Moskvina, Valentina, Stevenson, Jim, Holmans, Peter, Owen, Michael J., O'Donovan,, Michael C. and Julie, Williams (2005) Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. American Journal of Human Genetics, 76, (4), 581-591. (doi:10.1086/429131).

Copson, E., White, H.E., Cross, N.C.P., Eccles, D. and Robinson, D.O. (2004) Use of Pyrosequencing technology to quantitate allele expression in patients with BRCA1 mutations. Journal of Medical Genetics, 41, pp.S72.

Copson, Ellen, Eccles, Bryony, Maishman, Tom, Gerty, Sue, Stanton, L., Cutress, Ramsey I., Altman, Douglas G., Durcan, Lorraine, Simmonds, Peter, Lawrence, Gill, Jones, Louise, Bliss, Judith and Eccles, Diana (2013) Prospective Observational Study of Breast Cancer Treatment Outcomes for UK Women Aged 18–40 Years at Diagnosis: The POSH Study. JNCI Journal of the National Cancer Institute, 105, (13), 978-988. (doi:10.1093/jnci/djt134). (PMID:23723422).

Copson, Ellen R., White, Helen E., Blaydes, Jeremy P., Robinson, David O., Johnson, Peter W. and Eccles, Diana M. (2006) Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers. BMC Cancer, 6, (80) (doi:10.1186/1471-2407-6-80).

Cordero, N., West, J. and Berney, H. (2003) Thermal modelling of Ohmic heating microreactors. [in special issue: Thermal Investigations of integrated circuits and systems at Therminic 2002] Microelectronics Journal, 34, (12), 1137-1142. (doi:10.1016/S0026-2692(03)00204-0).

Couch, Fergus J., Gaudet, Mia M., Antoniou, Antonis C., Ramus, Susan J., Kuchenbaecker, Karoline B., Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, Wang, Xianshu, Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Healey, Sue, Sinilnikova, Olga M., Andrulis, Irene L., Ozcelik, Hilmi, Mulligan, Anna Marie, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe Birk, Skytte, Anne-Bine, Kruse, Torben A., Caligo, Maria A., von Wachenfeldt, Anna, Barbany-Bustinza, Gisela, Loman, Niklas, Soller, Maria, Ehrencrona, Hans, Karlsson, Per, Nathanson, Katherine L., Rebbeck, Timothy R., Domchek, Susan M., Jakubowska, Ania, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Zlowocka, Elżbieta, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Cybulski, Cezary, Gorski, Bohdan, Osorio, Ana, Duran, Mercedes, Tejada, María Isabel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B.L., van Os, Theo A., van Leeuwen, Flora E., Meijers-Heijboer, Hanne E.J., Wijnen, Juul, Blok, Marinus J., Kets, Marleen, Hooning, Maartje J., Oldenburg, Rogier A., Ausems, Margreet G.E.M., Peock, Susan, Frost, Debra, Ellis, Steve D., Platte, Radka, Fineberg, Elena, Evans, D. Gareth, Jacobs, Chris, Eeles, Rosalind A., Adlard, Julian, Davidson, Rosemarie, Eccles, Diana M., Cole, Trevor, Cook, Jackie, Paterson, Joan, Brewer, Carole, Douglas, Fiona, Hodgson, Shirley V., Morrison, Patrick J., Walker, Lisa, Porteous, Mary E., Kennedy, M. John, Side, Lucy E., Bove, Betsy, Godwin, Andrew K., Stoppa-Lyonnet, Dominique, Fassy-Colcombet, Marion, Castera, Laurent, Cornelis, François, Mazoyer, Sylvie, Leone, Mélanie, Boutry-Kryza, Nadia, Bressac-de Paillerets, Brigitte, Caron, Olivier, Pujol, Pascal, Coupier, Isabelle, Delnatte, Capuchine, Akloul, Linda, Lynch, Henry T., Snyder, Carrie L., Buys, Saundra S., Daly, Mary B., Terry, MaryBeth, Chung, Wendy K., John, Esther M., Miron, Alexander, Southey, Melissa C., Hopper, John L., Goldgar, David E., Singer, Christian F., Rappaport, Christine, Tea, Muy-Kheng M., Fink-Retter, Anneliese, Hansen, Thomas V.O., Nielsen, Finn C., Arason, Aðalgeir, Vijai, Joseph, Shah, Sohela, Sarrel, Kara, Robson, Mark E., Piedmonte, Marion, Phillips, Kelly, Basil, Jack, Rubinstein, Wendy S., Boggess, John, Wakeley, Katie, Ewart-Toland, Amanda, Montagna, Marco, Agata, Simona, Imyanitov, Evgeny N., Isaacs, Claudine, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Feliubadalo, Lidia, Brunet, Joan, Gayther, Simon A., Pharoah, Paul P.D., Odunsi, Kunle O., Karlan, Beth Y., Walsh, Christine S., Olah, Edith, Teo, Soo Hwang, Ganz, Patricia A., Beattie, Mary S., van Rensburg, Elizabeth J., Dorfling, Cecelia M., Diez, Orland, Kwong, Ava, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Heidemann, Simone, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorothea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Fiebig, Britta, Heinritz, Wolfram, Caldes, Trinidad, de la Hoya, Miguel, Muranen, Tara A., Nevanlinna, Heli, Tischkowitz, Marc D., Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan Chun, Lindor, Noralane M., Fredericksen, Zachary, Pankratz, V. Shane, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Bernard, Loris, Viel, Alessandra, Giannini, Giuseppe, Varesco, Liliana, Radice, Paolo, Greene, Mark H., Mai, Phuong L., Easton, Douglas F., Chenevix-Trench, Georgia, Offit, Kenneth and Simard, Jacques (2012) Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology Biomarkers & Prevention, 21, (4), 645-657. (doi:10.1158/1055-9965.EPI-11-0888). (PMID:22351618).

Coughlan, A., Vallath, S., Gros, A., van Rooijen, N., Thomas, G.J., Baker, A.H., Cascallo, M., Alemany, R. and Hart, I.R. (2012) A tropism-modified, CAR-detargeted Ad5 vector which displays reduced hepatotropism and an optimal profile has an improved therapeutic index compared with Ad5. Human Gene Therapy

Couto Alves, Alexessander, Bruhn, Sören, Ramasamy, Adaikalavan, Wang, Hui, Holloway, John W., Hartikainen, Anna-Liisa, Jarvelin, Marjo-Riitta, Benson, Mikael, Balding, David J. and Coin, Lachlan J. M. (2013) Dysregulation of complement system and CD4+ T cell activation pathways implicated in allergic response. PLoS ONE, 8, (10), e74821. (doi:10.1371/journal.pone.0074821).

Couty, A., Down, R.E., Gatehouse, A.M.R., Kaiser, L., Pham-Delegue, M.H. and Poppy, G.M. (2001) Effects of artificial diet containing GNA and GNA-expressing potatoes on the development of the aphid parasitoid Aphidius ervi Haliday (Hymenoptera : Aphidiidae). Journal of Insect Physiology, 47, (12), 1357-1366. (doi:10.1016/S0022-1910(01)00111-1).

Cox, H., Renforth, G., Craven, L., Spaluto, M. and Wilson, D. (2002) Hypoplastic left heart syndrome: a clinical and molecular study. Journal of Medical Genetics, 39, pp.S39.

Cox, Helen, Lucassen, Anneke, Rio, Marlene, Browne, Caroline, Renforth, Glenn, Craven, Lyndsey, Salmon, Tony and Wilson, David I. (2009) Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings. Clinical Dysmorphology, 18, (2), 98-102. (doi:10.1097/MCD.0b013e3283202a1f).

Cragg, Mark S., Chan, H.T. Claude, Fox, Matthew D., Tutt, Alison, Smith, Aaimée, Oscier, David G., Hamblin, Terry J. and Glennie, Martin J. (2002) The alternative transcript of CD79b is overexpressed in B-CLL and inhibits signaling for apoptosis. Blood, 100, (9), 3068-3076. (doi:10.1182/blood.V100.9.3068).

Cragg, Mark S., Jansen, Elisa S., Cook, Michele, Harris, Claire, Strasser, Andreas and Scott, Clare L. (2008) Treatment of B-RAF mutant human tumor cells with a MEK inhibitor requires Bim and is enhanced by a BH3 mimetic. Journal of Clinical Investigation, 118, (11), 3651-3659. (doi:10.1172/JCI35437).

Cragg, Mark S., Kuroda, Junya, Puthalakath, Hamsa, Huang, David C.S. and Strasser, Andreas (2007) Gefitinib-induced killing of NSCLC cell lines expressing mutant EGFR requires BIM and can be enhanced by BH3 mimetics. Plos Medicine, 4, (10), 1681-1690. (doi:10.1371/journal.pmed.0040316).

Craig, Kate, Takiyama, Yoshihisa, Soong, Bing-Wen, Jardim, Laura B, Saraiva-Pereira, Maria Luiza, Lythgow, Kieren, Morino, Hiroyuki, Maruyama, Hirofumi, Kawakami, Hideshi and Chinnery, Patrick F (2008) Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome? European Journal of Human Genetics, 16, (7), 841-847. (doi:10.1038/ejhg.2008.20). (PMID:18285829).

Crawford, Gillian, Foulds, Nicola, Fenwick, Angela, Hallowell, Nina and Lucassen, Anneke (2013) Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not. Genetics in Medicine, 15, (11), 896-899. (doi:10.1038/gim.2013.165). (PMID:24091799).

Crawford, Gillian and Lucassen, Anneke (2010) Predictive genetic testing in a young child: a case report. Familial Cancer, 9, (1), 61-64. (doi:10.1007/s10689-009-9277-1). (PMID:19672699).

Crolla, J. (2002) Antenatal diagnostic dilemmas: chromosome breakage syndromes. Journal of Medical Genetics, 39, pp.S31.

Crolla, J.A. and Van Heyningen, V. (2001) FISH studies in patients with aniridia reveals > 35% with chromosome abnormalities including five cryptic 3 PAX6 deletions. American Journal of Human Genetics, 69, (4), p.232.

Crolla, John A., Wapner, Ronald and Van Lith, Jan M.M. (2014) Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray? Prenatal Diagnosis, 34, (1), 18-22. (doi:10.1002/pd.4287). (PMID:24302430).

Crolla, John A., Youings, Sheila A., Ennis, Sarah and Jacobs, Patricia A. (2005) Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. European Journal of Human Genetics, 13, (2), 154-160. (doi:10.1038/sj.ejhg.5201311).

Crolla, John A. and van Heyningen, Veronica (2002) Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. American Journal of Human Genetics, 71, (5), 1138-1149. (doi:10.1086/344396).

Crosier, Moira, Viggiano, Luigi, Guy, Jane, Misceo, Doriana, Stones, Robert, Wei, Wenbin, Hearn, Tom, Ventura, Mario, Archidiacono, Nicoletta, Rocchi, Mariano and Jackson, Michael S. (2002) Letter. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Research, 12, (1), 67-80. (doi:10.1101/gr.213702).

Cross, N.C.P., Daley, G.Q., Green, A.R., Hughes, T.P., Jamieson, C., Manley, P., Mughal, T., Perrotti, D., Radich, J., Skoda, R., Soverini, S., Vainchenker, W., Verstovsek, S., Villeval, J.-L. and Goldman, J.M. (2009) BCR-ABL1-positive CML and BCR-ABL1-negative chronic myeloproliferative disorders: some common and contrasting features. Leukemia, 22, (11), 1975-1989. (doi:10.1038/leu.2008.231).

Cross, N.C.P. and Reiter, A. (2002) Tyrosine kinase fusion genes in chronic myeloproliferative diseases. Leukemia, 16, (7), 1207-1212. (doi:10.1038/sj.leu.2402556).

Cross, N.C.P., White, H., Müller, M.C., Saglio, G. and Hochhaus, A. (2012) Standardized definitions of molecular response in chronic myeloid leukemia. Leukemia, 26, (10), 2172-2175. (doi:10.1038/leu.2012.104). (PMID:22504141).

Cross, Nicholas C. (2008) Hitchhikers' guide to the leukemia genome. Blood, 111, (9), 4428-4429.

Cross, Nicholas C. P. (2011) Genetic and epigenetic complexity in myeloproliferative neoplasms. Hematology, 2011, (1), 208-214. (doi:10.1182/asheducation-2011.1.208). (PMID:22160036).

Cross, Nicholas C.P. (2009) Standardisation of molecular monitoring for chronic myeloid leukaemia. Best Practice and Research. Clinical Haematology, 22, (3), 355-365. (doi:10.1016/j.beha.2009.04.001).

Cross, Nicholas C.P. (2011) Histone modification defects in developmental disorders and cancer. Oncotarget, 3, (1), 3-4. (PMID:22287508).

Culpan, Doris, MacGowan, Sian H., Ford, Julia M., Nicoll, James A., Griffin, W. Sue, Dewar, Deborah, Cairns, Nigel J., Hughes, Anthony, Kehoe, Patrick G. and Wilcock, Gordon K. (2003) Tumour necrosis factor-αgene polymorphisms and Alzheimer's disease. Neuroscience Letters, 350, (1), 61-65. ( doi:10.1016/S0304-3940(03)00854-1).

Curran, Michael A., Kim, Myoungjoo, Montalvo, Welby, Al-Shamkhani, Aymen and Allison, James P. (2011) Combination CTLA-4 blockade and 4-1BB activation enhances tumor rejection by increasing T-Cell infiltration, proliferation, and cytokine production. PLoS ONE, 6, (4), e19499-[11pp]. (doi:10.1371/journal.pone.0019499). (PMID:21559358).

Curran, S., Mill, J., Tahir, E., Kent, L., Richards, S., Gould, A., Hucket, L., Sharp, J., Batten, C., Fernando, S., Ozbay, F., Yazgan, Y, Simanoff, E., Thompson, M., Taylor, E. and Asherson, P. (2001) Association study of a dopamine transporter polymorphism and attention deficit hyperactivity disorder in the UK and Turkish Samples. Molecular Psychiatry, 6, (4), 425-428. (doi:10.1038/sj.mp.4000914).

Curran, S.R., Powell, J., Neale, B.M., Dworzynski, K., Li, T., Thomas, S., Brown, J., Veltman, M., Rioberts, S., Murphy, D., Sham, P. and Bolton, P. (2005) An association analysis of GABRB3, a candidate gene of the GABAA receptor complex on chromosome 15Q and autism spectrum disorder. [In Special Issue: XIII World Congress of Psychiatric Genetics 2005]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 138B, (1), p.66. (doi:10.1002/ajmg.b.30233).

Curtis, G., Dennis, N. and MacPherson, J. (1994) The impact of genetic counselling on females in fragile X families. Journal of Medical Genetics, 31, (12), 950-952. (doi:10.1136/jmg.31.12.950).

Custovic, A., Johnston, S. L., Pavord, I., Gaga, M., Fabbri, L., Bel, E. H., Le Souëf, P., Lötvall, J., Demoly, P., Akdis, C. A., Ryan, D., Mäkelä, M. J., Martinez, F., Holloway, J. W., Saglani, S., O'Byrne, P., Papi, A., Sergejeva, S., Magnan, A., Del Giacco, S., Kalayci, O., Hamelmann, E. and Papadopoulos, N. G. (2013) EAACI position statement on asthma exacerbations and severe asthma. Allergy, 68, (12), 1520-1531. (doi:10.1111/all.12275).

Cutress, Ramsey I., Townsend, Paul A., Sharp, Adam, Maison, Anna, Wood, Lynn, Lee, Ron, Brimmell, Matthew, Mullee, Mark A., Johnson, Peter W.M., Royle, Gavin T., Bateman, Adrian C. and Packham, Graham (2003) The nuclear BAG-1 isoform, BAG-1L, enhances oestrogen-dependent transcription. Oncogene, 22, (32), 4973-4982. (doi:10.1038/sj.onc.1206688). (PMID:12902980).

Dahabreh, Issa J., Jones, Amy V., Voulgarelis, Michael, Giannouli, Stavroula, Zoi, Christine, Alafakis-Tzannatos, Christina, Varla-Leftherioti, Marighoula, Moutsopoulos, Haralampous, Loukopoulos, Dimitris, Fotiou, Stelios, Cross, Nicholas C.P. and Zoi, Katerina (2009) No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. British Journal of Haematology, 144, (5), 802-803. (doi:10.1111/j.1365-2141.2008.07510.x).

Dal Bo, Michele, Rossi, Francesca Maria, Rossi, Davide, Deambrogi, Clara, Bertoni, Francesco, Del Giudice, Ilaria, Palumbo, Giuseppe, Nanni, Mauro, Rinaldi, Andrea, Kwee, Ivo, Tissino, Erika, Corradini, Giorgia, Gozzetti, Alessandro, Cencini, Emanuele, Ladetto, Marco, Coletta, Angela Maria, Luciano, Fabrizio, Bulian, Pietro, Pozzato, Gabriele, Laurenti, Luca, Forconi, Francesco, Di Raimondo, Francesco, Marasca, Roberto, Del Poeta, Giovanni, Gaidano, Gianluca, Foà, Robin, Guarini, Anna and Gattei, Valter (2011) 13q14 deletion size and number of deleted cells both influence prognosis in chronic lymphocytic leukemia. Genes, Chromosomes & Cancer, 50, (8), 633-643. (doi:10.1002/gcc.20885). (PMID:21563234).

Dal-Bo, Michele, Del Giudice, Ilaria, Bomben, Riccardo, Capello, Daniela, Bertoni, Francesco, Forconi, Francesco, Laurenti, Luca, Rossi, Davide, Zucchetto, Antonella, Pozzato, Gabriele, Marasca, Roberto, Efremov, Dimitar G., Guarini, Anna, Del Poeta, Giovanni, Foà, Robin, Gaidano, Gianluca and Gattei, Valter (2011) B-cell receptor, clinical course and prognosis in chronic lymphocytic leukaemia: the growing saga of the IGHV3 subgroup gene usage. British Journal of Haematology, 153, (1), 3-14. (doi:10.1111/j.1365-2141.2010.08440.x). (PMID:21303354).

Dallosso, A.R., Dolwani, S., Jones, N., Jones, S., Colley, J., Maynard, J., Idziaszczyk, S., Humphreys, V., Arnold, J., Donaldson, A., Eccles, D., Ellis, A., Evans, D.G., Frayling, I.M., Hes, F.J., Houlston, R.S., Meyer, E.R., Nielsen, M., Parry, S., Tyler, E., Moskvina, V., Cheadle, J.P. and Sampson, J.R. (2008) Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut: an International Journal of Gastroenterology and Hepatology, 57, (9), 1252-1255. (doi:10.1136/gut.2007.145748).

Daly, E., Moore, C.J., Schmitz, N., Jacobs, P., Davies, K., Murphy, K.C. and Murphy, D.G.M. (2001) Premutation expansion of CGG triplet repeats affects brain: a study of male carriers of Fragile X Syndrome. Journal of Medical Genetics, 38, pp.S40.

Damm, F., Kosmider, O., Gelsi-Boyer, V., Renneville, A., Carbuccia, N., Hidalgo-Curtis, C., Della-Valle, V., Couronne, L., Scourzic, L., Chesnais, V., Guerci-Bresler, A., Slama, B., Beyne-Rauzy, O., Schmidt-Tanguy, A., Stamatoullas-Bastard, A., Dreyfus, F., Prebet, T., de Botton, S., Vey, N., Morgan, M. A., Cross, N. C. P., Preudhomme, C., Birnbaum, D., Bernard, O. A. and Fontenay, M. (2012) Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes. Blood, 119, (14), 3211-3218. (doi:10.1182/blood-2011-12-400994).

Darby, R.A.J., Sollogoub, M., McKeen, M., Brown, Lynda J., Risitano, A., Brown, N., Barton, C., Brown, Tom and Fox, K.R. (2002) High throughput measurement of duplex, triplex and quadruplex melting curves using molecular beacons and a LightCycler. Nucleic Acids Research, 30, (9), e39-[9pp]. (doi:10.1093/nar/30.9.e39). (PMID:11972354).

Darling, Scott L., Stulz, Eugen, Feeder, Neil, Bampos, Nick and Sanders, Jeremy K.M. (2000) Phosphine-substituted porphyrins as supramolecular building blocks. New Journal of Chemistry, 24, (5), 261-264. (doi:10.1039/b000482k).

Darvill, B., Ellis, J.S, Lye, G.C and Goulson, D (2005) Population structure and inbreeding in a rare and declining bumblebee, Bombus muscorum (Hymenoptera: Apidae). Molecular Ecology, 15, (3), 601-611. (doi:10.1111/j.1365-294X.2006.02797.x). (Submitted).

Davey Smith, George, Lawlor, Debbie A., Harbord, Roger, Timpson, Nic, Rumley, Ann, Lowe, Gordon D.O., Day, Ian N.M. and Ebrahim, Shah (2005) Association of C-reactive protein with blood pressure and hypertension: life course confounding and mendelian randomization tests of causality. Arteriosclerosis, Thrombosis, and Vascular Biology, 25, (5), 1051-1056. (doi:10.1161/01.ATV.0000160351.95181.d0).

Davidson, G. L., Murphy, S. M., Polke, J. M., Laura, M., Salih, M. A. M., Muntoni, F., Blake, J., Brandner, S., Davies, N., Horvath, R., Price, S., Donaghy, M., Roberts, M., Foulds, N., Ramdharry, G., Soler, D., Lunn, M. P., Manji, H., Davis, M. B., Houlden, H. and Reilly, M. M. (2012) Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. Journal of Neurology, 259, (8), 1673-1685. (doi:10.1007/s00415-011-6397-y).

Davidson, Sean M., Rybka, Aneta E. and Townsend, Paul A. (2009) The powerful cardioprotective effects of urocortin and the corticotropin releasing hormone (CRH) family. Biochemical Pharmacology, 77, (2), 141-150. (doi:10.1016/j.bcp.2008.08.033).

Davidson, Sean M., Townsend, Paul A., Carroll, Chris, Yurek-George, Alexander, Balasubramanyam, Karanam, Kundu, Tapas K., Stephanou, Anastasis, Packham, Graham, Ganesan, A. and Latchman, David S. (2005) The transcriptional coactivator p300 plays a critical role in the hypertrophic and protective pathways induced by phenylephrine in cardiac cells but is specific to the hypertrophic effect of urocortin (in special Issue on EMBO Symposium: Chemistry Meets Biology). ChemBioChem, 6, (1), 162-170. (doi:10.1002/cbic.200400246).

Davies, Elizabeth R., Haitchi, Hans Michael, Thatcher, Thomas H., Sime, Patricia J., Kottmann, R. Matthew, Ganesan, Arasu, Packham, Graham, O'Reilly, Katherine M.A. and Davies, Donna E. (2012) Spiruchostatin A inhibits proliferation and differentiation of fibroblasts from patients with pulmonary fibrosis. American Journal of Respiratory Cell and Molecular Biology, 46, (5), 687-694. (doi:10.1165/rcmb.2011-0040OC). (PMID:22246864).

Davies, J. H. and Shaw, N. J. (2012) Investigation and management of hypercalcaemia in children. Archives of Disease in Childhood, 97, (6), 533-538. (doi:10.1136/archdischild-2011-301284). (PMID:22447996).

Davies, J.H. and Cheetham, T. (2014) Investigation and management of tall stature. Archives of Disease in Childhood, 99, (8), 772-777. (doi:10.1136/archdischild-2013-304830).

Davies, J.H., Evans, B.A.J., Jenney, M.E.M. and Gregory, J.W. (2003) Effects of chemotherapeutic agents on the function of primary human osteoblast-like cells derived from children. Journal of Clinical Endocrinology & Metabolism, 88, (12), 6088-6097. (doi:10.1210/jc.2003-030712).

Davies, J.H., Knight, E.J., Savage, A., Brown, J. and Malone, P.S. (2011) Evaluation of terminology used to describe disorders of sex development. Journal of Pediatric Urology, 7, (4), 412-415. (doi:10.1016/j.jpurol.2010.07.004). (PMID:20708971).

Davies, Justin H., Reed, Joseph M., Blake, Elizabeth, Priesemann, Max , Jackson, Alan A. and Clarke, Nicholas M.P. (2011) Epidemiology of vitamin D deficiency in children presenting to a pediatric orthopaedic service in the UK. Journal of Pediatric Orthopaedics, 31, (7), 798-802. (doi:10.1097/BPO.0b013e31822f1af1).

Davies, Neil M., Windmeijer, Frank, Martin, Richard M., Abdollahi, Mohammad , Smith, George Davey, Lawlor, Debbie A., Ebrahim, Shah and Day, Ian N.M. (2011) Use of genotype frequencies in medicated groups to investigate prescribing practice: APOE and statins as a proof of principle. Clinical Chemistry, 57, (3), 502-510. (doi:10.1373/clinchem.2010.156356). (PMID:21228258).

Day, I.N.M., Al-Dahmesh, M.A., Alharbi, K.K., Chen, X., Ganderton, R.H., Gaunt, T.R., Hinks, L.J., O'Dell, S.D., Spanakis, E., Day, P.J.R., Suchard, M.A., Zhang, B.B. and James, M.R. (2002) Electrophoresis in microplate formats. In, Ye, S. and Day, I.N.M. (eds.) Microarrays & Microplates: Applications in Biomedical Sciences. Oxford, UK, Garland Science, 145-165. (Advanced Methods).

Day, Ian N. (2005) Microplate array diagonal gel electrophoresis (MADGE). In, Taylor, Graham R., Day, Ian N.M. and Human Genome Organization, (HUGO) (eds.) Guide to Mutation Detection. London, UK, Wiley, 315-320. (General Genetics).

Day, Ian N.M. (2002) Molecular genetic epidemiology: a laboratory perspective, London, UK: Berlin, Germany, Springer, 214pp. (Principles and Practice, XII).

Day, Ian N.M. (2003) Genetics of monogenic hypercholesterolemia. Volume 4. In, Cooper, David (ed.) Nature Encyclopedia of the Human Genome. London, UK, Nature Publishing Group, 69-74.

Day, Ian N.M. (2003) Genetics of Monogenic Hypercholesterolemia. In, Cooper, David (ed.) Nature Encyclopedia of the Human Genome. London, Nature Publishing Group, 69-74.

Day, Ian N.M., Aldahmesh, Mohammed A., Haddad, Lema, Alharbi, Khalid K., Chen, Xiao-he, Rassoulian, Hamid, Humphries, Steve E., Spanakis, Emmanuel and Eccles, Diana, Human Genome Organization (HUGO) (2005) MeltMADGE: economical very high-throughput mutation scanning using thermal ramp electrophoresis in conjunction with MADGE (microplate array) gels. In, Taylor, Graham R. and Day, Ian N. (eds.) Guide to Mutation Detection. Hoboken, USA, Wiley, 85-99.

Day, Ian N.M., Gaunt, Tom R., Chen, Xiao-he and Ganderton, Rosalind H. (2004) Microplate array diagonal gel electrophoresis for SNP and microsatellite genotyping and for mutation scanning. In, Fuchs, Jurgen and Padda, Maurizio (eds.) Encyclopedia of Medical Genomics and Proteomics. London, UK, Informa Healthcare, 836-841.

Day, Ian N.M., Gu, Dongfeng, Ganderton, Rosalind H., Spanakis, Emmanuel and Ye, Shu (2001) Epidemiology and the genetic basis of disease. International Journal of Epidemiology, 30, (4), 661-667. (doi:10.1093/ije/30.4.661).

Day, Ian N.M., King, Tabitha H.T., Chen, Xiao-he, Voropanov, Anca M., Ye, Shu, Syddall, Holly E., Sayer, Avan Aihie, Cooper, Cyrus, Barker, David J. and Phillips, David I.W. (2002) Insulin-like growth factor-I genotype and birthweight. The Lancet, 360, (9337), 945. (doi:10.1016/S0140-6736(02)11044-0).

Day-Williams, Aaron G., Southam, Lorraine, Panoutsopoulou, Kalliope, Rayner, Nigel W., Esko, Tonu, Estrada, Karol, Helgadottir, Hafdis T., Hofman, Albert, Ingvarsson, Throvaldur, Jonsson, Helgi, Keis, Aime, Kerkhof, Hanneke J. M., Thorleifsson, Gudmar, Arden , Nigel K., Carr, Andrew, Chapman, Kay, Deloukas, Panos, Loughlin, John, McCaskie, Andrew, Ollier, William E. R., Ralston, Staurt H., Spector, Timothy D., Wallis, Gillian A., Wilkinson, J. Mark, Aslam, Nadim, Birrell, Fraser, Carluke, Ian, Joseph, John, Rai, Ashok, Reed, Mike, Walker, Kirsten, Doherty, Sally A., Jonsdottir, Ingileif, Maciewicz, Rose A., Muir, Kenneth A., Metspalu, Andres, Rivadeneira, Fernando, Stefansson, Kari, Styrkarsdottir, Unnur, Uitterlinden, Andre G., van Meurs, Joyce B. J., Zhang, Weiya, Valdes, Ana M., Doherty, Michael, Zeggini, Elefthira and arcOGEN Consortium (2011) A variant in MCF2L is associated with osteoarthritis. The American Journal of Human Genetics, 89, (3), 446-450. (doi:10.1016/j.ajhg.2011.08.001 ). (PMID:21871595).

De Falco, Francesca, Cainarca, Silvia, Andolfi, Grazia, Ferrentino, Rosa, Berti, Caterina, Criado, German Rodríguez, Rittinger, Olaf, Dennis, Nick, Odent, Sylvie, Rastogi, Amit, Liebelt, Jan, Chitayat, David, Winter, Robin, Jawanda, Harinder, Ballabio, Andrea, Franco, Brunella and Meroni, Germana (2003) X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. American Journal of Medical Genetics Part A, 120A, (2), 222-228. (doi:10.1002/ajmg.a.10265).

De Groot, P. (1996) Underutilized Tropical Plant Genetic Resources, Conservation and Utilization, Kuala Lumpur, MY, Universiti Pertanian Malaysia Press, 353pp.

De La Vega, Francisco M., Isaac, Hadar, Collins, Andrew, Scafe, Charles R., Halldórsson, Bjarni V., Su, Xiaoping, Lippert, Ross A., Wang, Yu, Laig-Webster, Marion, Koehler, Ryan T., Ziegle, Janet S., Wogan, Lewis T., Stevens, Junko F., Leinen, Kyle M., Olson, Sheri J., Guegler, Karl J., You, Xiaoqing, Xu, Lily H., Hemken, Heinz G., Kalush, Francis, Itakura, Mitsuo, Zheng, Yi, de Thé, Guy, O'Brien, Stephen J., Clark, Andrew G., Istrail, Sorin, Hunkapiller, Michael W., Spier, Eugene G. and Gilbert, Dennis A. (2005) The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern. Genome Research, 15, (4), 454-462. (doi:10.1101/gr.3241705).

De Paoli, Lorenzo, Cerri, Michaela, Monti, Sara, Rasi, Silvia, Spina, Valeria, Bruscaggin, Alessio, Greco, Mariangela, Ciardullo, Carmela, Famà, Rosella, Cresta, Stefania, Maffei, Rossana, Ladetto, Marco, Martini, Maurizio, Laurenti, Luca, Forconi, Francesco, Marasca, Roberto, Larocca, Luigi M., Bertoni, Francesco, Gaidano, Gianluca and Rossi, Davide (2013) MGA, a suppressor of MYC, is recurrently inactivated in high risk chronic lymphocytic leukemia. Leukemia & Lymphoma, 54, (5), 1087-1090. (doi:10.3109/10428194.2012.723706). (PMID:23039309).

DeWoody, Jennifer, Viger, Maud, Lakatos, Ferenc, Tuba, Katalin, Taylor, Gail and Smulders, Marinus J M (2013) Insight into the genetic components of community genetics: QTL mapping of insect association in a fast-growing forest tree. PLoS ONE, 8, (11), 1-11. (doi:10.1371/journal.pone.0079925).

Deakin, J.E., Siddle, H.V., Cross, J.G.R., Belov, K. and Graves, J.A.M. (2007) Class I genes have split from the MHC in the tammar wallaby. Cytogenetic and Genome Research, 116, (3), 205-211. (doi:10.1159/000098188). (PMID:17317961).

Deans, Zandra C., Tull, Justyna, Beighton, Gemma, Abbs, Stephen, Robinson, David O. and Butler, Rachel (2011) Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancer. Genetic Testing and Molecular Biomarkers, 15, (11), 777-783. (doi:10.1089/gtmb.2010.0239). (PMID:21851273).

Deb, Roona, Shahib, Farouk, Reid, Kenneth and Clark, Howard (2007) Major house dust allergens Dermatophagoides pteronyssinus 1 and Dermatophagoides farinae 1 degrade and inactivate lung surfactant proteins A and D. Journal of Biological Chemistry, 282, (51), 36808-36819. (doi:10.1074/jbc.M702336200 ).

Dechaine, J.M., Burger, J.C., Chapman, M.A., Seiler, G.J., Brunick, R., Knapp, S.J. and Burke, J.M. (2009) Fitness effects and genetic architecture of plant-herbivore interactions in sunflower crop-wild hybrids. New Phytologist, 184, (4), 828-841. (doi:10.1111/j.1469-8137.2009.03077.x).

Deguchi, Kenji, Ayton, Paul M., Carapeti, Melina, Kutok, Jeffery L., Snyder, Cynthia S., Williams, Ifor R., Cross, Nicholas C.P., Glass, Christopher K., Cleary, Michael L. and Gilliland, D. Gary (2003) MOZ-TIF2-induced acute myeloid leukemia requires the MOZ nucleosome binding motif and TIF2-mediated recruitment of CBP. Cancer Cell, 3, (3), 259-271. (doi:10.1016/S1535-6108(03)00051-5).

Deleavey, Glen F., Watts, Jonathan K., Alain, Tommy, Robert, Francis, Kalota, Anna, Aishwarya, Veenu, Pelletier, Jerry, Gewirtz, Alan M., Sonenberg, Nahum and Damha, Masad J. (2010) Synergistic effects between analogs of DNA and RNA improve the potency of siRNA-mediated gene silencing. Nucleic Acids Research, 38, (13), 4547-4557. (doi:10.1093/nar/gkq181). (PMID:20413581).

Demiroglu, Asuman, Steer, E. Joanna, Heath, Carol, Taylor, Kerry, Bentley, Mark, Allen, Steven L., Koduru, Prasad, Brody, Judith P., Hawson, Geoffrey, Rodwell, Robyn, Doody, Mary Lou., Carnicero, Fernando, Reiter, Andreas, Goldman, John M., Melo, Junia V. and Cross, Nicholas C.P. (2001) The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. Blood, 98, (13), 3778-3783. (doi:10.1182/blood.V98.13.3778).

Deng, Yu, Fielding, Patrick A., Lambden, Paul R., Caul, E. Owen and Clarke, Ian N. (1995) Molecular characterization of the 11th RNA segment from human group C rotavirus. Virus Genes, 10, (3), 239-243. (doi:10.1007/BF01701813). (PMID:8560785).

Dennis, N.R., Veltman, M.W.M., Thompson, R., Craig, E., Bolton, P.F. and Thomas, N.S. (2006) Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. American Journal of Medical Genetics Part A, 140A, (5), 434-441. (doi:10.1002/ajmg.a.31091).

Dennis, Nicholas R., Curtis, Greta, Macpherson, James N. and Jacobs, Patricia A. (1992) Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype. American Journal of Medical Genetics, 43, (1-2), 232-236. (doi:10.1002/ajmg.1320430137).

Dennison, E.M., Syddall, H.E., Day, I.N.M., Gaunt, T.R., Rodriguez, S., Lips, M. and Cooper, C. (2006) Early life calcium-sensing receptor gene polymorphism interaction in determination of adult bone mass: the Hertfordshire Cohort study. Journal of Bone and Mineral Research, 21, (7), p1156.

Dennison, Elaine M., Arden, Nigel K., Keen, Richard W., Syddall, Holly, Day, Ian N.M., Spector, Timothy D. and Cooper, Cyrus (2001) Birthweight, vitamin D receptor genotype and the programming of osteoporosis. Paediatric and Perinatal Epidemiology, 15, (3), 211-219. (doi:10.1046/j.1365-3016.2001.00350.x).

Dennison, Elaine M., Syddall, Holly E., Rodriguez, S., Voropanov, A., Day, I.N.M. and Cooper, Cyrus (2004) Polymorphism in the growth hormone gene, weight in infancy, and adult bone mass. Journal of Clinical Endocrinology and Metabolism, 89, (10), 4898-4903. (doi:10.1210/jc.2004-0151).

Dent, T., Jbilou, J., Rafi, I., Segnan, N., Törnberg, S., Chowdhury, S., Hall, A., Lyratzopoulos, G., Eeles, R., Eccles, D., Hallowell, N., Pashayan, N., Pharoah, P. and Burton, H. (2013) Stratified cancer screening: the practicalities of implementation. Public Health Genomics (doi:10.1159/000345941). (PMID:23363703).

Dey, J., Carr, A.-J.F., Cagampang, F.R.A., Semikhodskii, A.S., Loudon, A.S.I, Hastings, M.H. and Maywood, E.S. (2005) The tau mutation in the Syrian hamster differentially reprograms the circadian clock in the SCN and peripheral tissues. Journal of Biological Rhythms, 20, (2), 99-110. (doi:10.1177/0748730404274264).

Di Leo, A., Chan, S., Paesmans, M., Friedrichs, K., Pinter, T., Cocquyt, V., Murray, E., Bodrogi, I., Walpole, E., Lesperance, B., Korec, S., Crown, J., Simmonds, P., Von Minckwitz, G., Leroy, J.Y., Durbecq, V., Isola, J., Aapro, M., Piccart, M.J. and Larsimont, D. (2004) HER-2/neu as a predictive marker in a population of advanced breast cancer patients randomly treated either with single-agent doxorubicin or single-agent docetaxel. Breast Cancer Research and Treatment, 86, (3), 197-206. (doi:10.1023/B:BREA.0000036783.88387.47).

Diaz-Mochon, Juan José, Bialy, Laurent, Keinicke, Lise and Bradley, Mark (2005) Combinatorial libraries - from solution to 2D microarrays. Chemical Communications, (11), 1384-1386. (doi: 10.1039/b415847d).

Diebold, Sandra S., Montoya, Maria, Unger, Hermann, Alexopoulou, Lena, Roy, Polly, Haswell, Linsey E., Al-Shamkhani, Aymen, Flavell, Richard, Borrow, Persephone and Reis e Sousa, Caetano (2003) Letter to Nature. Viral infection switches non-plasmacytoid dendritic cells into high interferon producers. Nature, 424, (6946), 324-328. (doi:10.1038/nature01783).

Dimopoulou, Aikaterini, Fischer, Björn, Gardeitchik, Thatjana, Schröter, Phillipe, Kayserili, Hülya, Schlack, Claire, Li, Yun, Brum, Jaime Moritz, Barisic, Ingeborg, Castori, Marco, Spaich, Christiane, Fletcher, Elaine, Mahayri, Zeina, Bhat, Meenakshi, Girisha, Katta M., Lachlan, Katherine, Johnson, Diana, Phadke, Shubha, Gupta, Neerja, Simandlova, Martina, Kabra, Madhulika, David, Albert, Nijtmans, Leo, Chitayat, David, Tuysuz, Beyhan, Brancati, Francesco, Mundlos, Stefan, van Maldergem, Lionel, Morava, Eva, Wollnik, Bernd and Kornak, Uwe (2013) Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Molecular Genetics and Metabolism, 110, (3), 352-361. (doi:10.1016/j.ymgme.2013.08.009). (PMID:24035636).

Ding, Yuan C., McGuffog, Lesley, Healey, Sue, Friedman, Eitan, Laitman, Yael, Paluch-Shimon, Shani, Kaufman, Bella, Liljegren, Annelie, Lindblom, Annika, Olsson, Håkan, Kristoffersson, Ulf, Stenmark-Askmalm, Marie, Melin, Beatrice, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Huzarski, Tomasz, Cybulski, Cezary, Byrski, Tomasz, Osorio, Ana, Cajal, Teresa Ramóny, Stavropoulou, Alexandra V., Benitez, Javier, Hamann, Ute, Rookus, Matti, Aalfs, Cora M., de Lange, Judith L., Meijers-Heijboer, Hanne E.J., Oosterwijk, Jan C., van Asperen, Christi J., Gomez Garcia, Encarna B., Hoogerbrugge, Nicoline, Jager, Agnes, van der Luijt, Rob B., Easton, Douglas F., Peock, Susan, Frost, Debra, Ellis, Steve D., Platte, Radka, Fineberg, Elena, Evans, D. Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Cole, Trevor, Cook, Jackie, Brewer, Carole, Tischkowitz, Marc, Godwin, Andrew K., Pathak, Harsh, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Mazoyer, Sylvie, Barjhoux, Laure, Léoné, Mélanie, Gauthier-Villars, Marion, Caux-Moncoutier, Virginie, de Pauw, Antoine, Hardouin, Agnès, Berthet, Pascaline, Dreyfus, Hélène, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnès, Sokolowska, Johanna, Buys, Sandra, Daly, Mary, Miron, Alex, Terry, M.B., Chung, W., John, E.M., Southey, M., Goldgar, D., Singer, C.F., Tea, M.-K.M., Gschwantler-Kaulich, D., Fink-Retter, A., Hansen, T.V.O., Ejlertsen, B., Johannsson, O.T., Offit, K., Sarrel, K., Gaudet, M.M., Vijai, J., Robson, M., Piedmonte, M.R., Andrews, L., Cohn, D., DeMars, L.R., DiSilvestro, P., Rodriguez, G., Toland, A.E., Montagna, M., Agata, S., Imyanitov, E., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Ramus, S.J., Sucheston, L., Karlan, B.Y., Gross, J., Ganz, P.A., Beattie, M.S., Schmutzler, R.K., Wappenschmidt, B., Meindl, A., Arnold, N., Niederacher, D., Preisler-Adams, S., Gadzicki, D., Varon-Mateeva, R., Deissler, H., Gehrig, A., Sutter, C., Kast, K., Nevanlinna, H., Aittomaki, K., Simard, J., Spurdle, A.B., Beesley, J., Chen, X., Tomlinson, G.E., Weitzel, J., Garber, J.E., Olopade, O.I., Rubinstein, W.S., Tung, N., Blum, J.L., Narod, S.A., Brummel, S., Gillen, D.L., Lindor, N., Fredericksen, Z., Pankratz, V.S., Couch, F.J., Radice, P., Peterlongo, P., Greene, M.H., Loud, J.T., Mai, P.L., Andrulis, I.L., Glendon, G., Ozcelik, H., Gerdes, A.-M., Thomassen, M., Jensen, U.B., Skytte, A.-B., Caligo, M.A., Lee, A., Chenevix-Trench, G., Antoniou, A.C. and Neuhausen, S.L. (2012) A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiology Biomarkers & Prevention, 21, (8), 1362-1370. (doi:10.1158/1055-9965.EPI-12-0229). (PMID:22729394).

Divina, Petr, Kvitkovicova, Andrea, Buratti, Emanuele and Vorechovsky, Igor (2009) Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. European Journal of Human Genetics, 17, (6), 759-765. (doi:10.1038/ejhg.2008.257).

Dixit, A., Chandler, K.E., Lever, M., Poole, R.L., Bullman, H., Mughal, M.Z., Steggall, M. and Suri, M. (2013) Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. Journal of Clinical Endocrinology & Metabolism, 98, (1), E103-E108. (doi:10.1210/jc.2012-2639). (PMID:23144470).

Dobbyn, H.C., Hill, K., Hamilton, T.L., Spriggs, K.A., Pickering, B.M., Coldwell, M.J., de Moor, C.H., Bushell, M. and Willis, A.E. (2008) Regulation of BAG-1 IRES-mediated translation following chemotoxic stress. Oncogene, 27, (8), 1167-1174. (doi:10.1038/sj.onc.1210723). (PMID:17700523).

Docherty, L.E., Kabwama, S., Lehmann, A., Hawke, E., Harrison, L., Flanagan, S.E., Ellard, S., Hattersley, A.T., Shield, J.P.H., Ennis, S., Mackay, D.J.G. and Temple, I.K. (2013) Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia, 56, (4), 758-762. (doi:10.1007/s00125-013-2832-1). (PMID:23385738).

Docherty, L.E., Poole, R, Mattocks, C.J., Lehmann, A., Temple, I.K. and Mackay, D.J.G. (2010) Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes. Diabetologia, 53, (11), 2347-2351. (doi:10.1007/s00125-010-1853-2). (PMID:20668833).

Docherty, L.E., Rezwan, F.I., Poole, R.L., Jagoe, H., Lake, H., Lockett, G.A., Arshad, H., Wilson, D.I., Holloway, J.W., Temple, I.K. and Mackay, D.J.G. (2014) Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes. Journal of Medical Genetics, 51, (4), 229-238. (doi:10.1136/jmedgenet-2013-102116).

Dolan, Michelle, Cioc, Adina, Cross, Nicholas C. P., Neglia, Joseph P. and Tolar, Jakub (2012) Favorable outcome of allogeneic hematopoietic cell transplantation for 8p11 myeloproliferative syndrome associated with BCR-FGFR1 gene fusion. Pediatric Blood & Cancer, 59, (1), 194-196. (doi:10.1002/pbc.23404). (PMID:22106025).

Dolk, H., Armstrong, B., Lachowycz, K., Vrijheid, M., Rankin, J., Abramsky, L., Boyd, P. and Wellesley, D. (2010) Ambient Air Pollution and Risk of Congenital Anomalies in England, 1991-99. Occupational and Environmental Medicine, 67, (4), 223-227. (doi:10.1136/oem.2009.045997).

Dolk, H., Jentink, J., Loane, M., Morris, J., de Jong-van den Berg, L.T., Calzolari, E., Barisic, I., Wellesley, D., Garne, E., De Vigan, C., de Walle, H., Bakker, M., Gatt, M., Melve, K.K., O'Mahony, M., Nelen, V., Gillerot, Y., Rivieri, F., Pierini, A., Queisser-Luft, A., Poetzsch, S., Tucker, D., Portillo, I., Latos-Bielenska, A., Mejnartowicz, J., Doray, B. and Addor, M.C. EUROCAT Antiepileptic Drug Working Group (2009) Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations? Neurology, 71, (10), 714-722. (doi:10.1212/01.wnl.0000316194.98475.d8). (PMID:18650491).

Dolk, H. and Wellesley, D. (2014) Antenatal screening for Down Syndrome and other chromosomal abnormalities: increasingly complex issues. Archives of Disease in Childhood - Fetal and Neonatal Edition, 99, (1), F2-F3. (doi:10.1136/archdischild-2013-304384). (PMID:24132715).

Donaldson, James F., Davis, Nikki, Davies, Justin H., Rees, Roland W. and Steinbrecher, Henrik A. (2012) Priapism in teenage boys following depot testosterone. Journal of Pediatric Endocrinology and Metabolism, 25, (11-12), 1173-1176. (doi:10.1515/jpem-2012-0270).

Douglas, A.G.L., Rafferty, H., Hodgkins, P., Nagra, A., Foulds, N.C., Morgan, M. and Temple, I.K. (2010) Persistent fetal vasculature and severe protein C deficiency. Molecular Syndromology, 1, (2), 82-86. (doi:10.1159/000302372). (PMID:21045961).

Douglas, Andrew G. L. (2010) No blind alleys in the clinic. British Medical Journal, 340, c2754. (doi:10.1136/bmj.c2754).

Douglas, J., Tatton-Brown, K., Coleman, K., Guerrero, S., Berg, J., Cole, T.R., Fitzpatrick, D., Gillerot, Y., Hughes, H.E., Pilz, D., Raymond, F.L., Temple, I.K., Irrthum, A., Schouten, J.P. and Rahman, N. (2005) Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. Journal of Medical Genetics, 42, (9) (doi:10.1136/jmg.2005.031930).

Douglas, Jenny, Coleman, Kim, Tatton-Brown, Katrina, Hughes, Helen E., Temple, I. Karen, Cole, Trevor R.P. and Rahman, Nazneen (2005) Evaluation of NSD2 and NSD3 in overgrowth syndromes. European Journal of Human Genetics, 13, (2), 150-153. (doi:10.1038/sj.ejhg.5201298).

Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Cole, Trevor R.P. and Rahman, Nazneen (2003) NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. American Journal of Human Genetics, 72, (1), 132-143. (doi:10.1086/345647).

Dowling, James J., Lillis, Suzanne, Amburgey, Kimberley, Zhou, Haiyan, Al-Sarraj, Safa, Buk, Stefan J.A., Wraige, Elizabeth, Chow, Gabby, Abbs, Stephen, Leber, Steven, Lachlan, Katherine, Baralle, Diana, Taylor, Alexandra, Sewry, Caroline, Muntoni, Francesco and Jungbluth, Heinz (2011) King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscular Disorders, 21, (6), 420-427. (doi:10.1016/j.nmd.2011.03.006). (PMID: 21514828).

Drake, Amanda J., McPherson, Rhoanne C., Godfrey, Keith M., Cooper, Cyrus, Lillycrop, Karen A., Hanson, Mark A., Meehan, Richard R., Seckl, Jonathan R. and Reynolds, Rebecca M. (2012) An unbalanced maternal diet in pregnancy associates with offspring epigenetic changes in genes controlling glucocorticoid action and fetal growth. Clinical Endocrinology, 77, (6), 808-815.

Draper, Elizabeth S., Rankin, Judith, Tonks, Ann, Boyd, Patricia, Wellesley, Diana, Tucker, David and Budd, Judith BINOCAR Management Committee (2009) Congenital abnormalities: data needed to establish causes. British Medical Journal, 339, b3428. (doi:10.1136/bmj.b3428).

Drummond, M.W., Pocock, C., Boissinot, M., Mills, J., Brown, J., Cauchy, P., Cross, N.C.P., Hartley, S., Kell, J., Szubert, A., Cockerill, P.N. and Bowen, D.T. (2014) Letter to the editor. A multi-centre phase 2 study of azacitidine in chronic myelomonocytic leukaemia. Leukemia, 28, (7), 1570-1572. (doi:10.1038/leu.2014.85).

Dufke, Andreas, Vollmer, Brigitte, Kendziorra, Heidemarie, Mackensen-Haen, Susanne, Orth, Ulrike, Orlikowsky, Thorsten and Gal, Andreas (2001) Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti. Prenatal Diagnosis, 21, (12), 1019-1021. (doi:10.1002/(ISSN)1097-0223). (PMID:11746157).

Duggal, P., Thio, C.L., Wojcik, G.L., Goedert, J.J., Mangia, A., Latanich, R., Kim, A.Y., Lauer, G.M., Chung, R.T., Peters, M.G., Kirk, G.D., Mehta, S.H., Cox, A.L., Khakoo, S.I., Alric, L., Cramp, M.E., Donfield, S.M., Edlin, B.R., Tobler, L.H., Busch, M.P., Alexander, G., Rosen, H.R., Gao, X., Abdel-Hamid, M., Apps, R., Carrington, M. and Thomas, D.L. (2013) Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts. Annals of Internal Medicine, 158, (4), 235-245. (doi:10.7326/0003-4819-158-4-201302190-00003). (PMID:23420232).

Duhoux, Francois P., Auger, Nathalie, De Wilde, Sigrid, Wittnebel, Sebastian, Ameye, Geneviève, Bahloula, Khadija, Van den Berg, Catherine, Libouton, Jeanne-Marie, Saussoy, Pascale and Grand, Francis H. (2011) Letter to the Editor. The t(1;9)(p34;q34) fusing ABL1 with SFPQ, a pre-mRNA processing gene, is recurrent in acute lymphoblastic leukemias. Leukemia Research, 35, (7), e114-e117. (doi:10.1016/j.leukres.2011.02.011). (PMID:21388681).

Dunn, C., Bateman, M., Baralle, D., Willatt, L. and Simonic, I. (2007) Terminal deletion of an inherited 8p paracentric inversion: broken recombinant or independent deletion? Journal of Medical Genetics, 44, pp.S107.

Dunn, C., Bateman, M., Baralle, D., Willatt, L. and Simonic, I. (2007) Terminal deletion of an inherited 8p paracentric inversion broken recombinant or independent deletion? Journal of Medical Genetics, 44, pp.S107.

Dupuis, Josée, Langenberg, C., Propkopenko, I., Saxena, R., Soranzo, N., Jackson, A.U., Wheeler, E., Glazer, N.L., Bouatia-Naji, N., Gloyn, A.L., Lindgren, C.M., Magi, R., Morris, A.P., Randall, J., Johnson, T., Elliott, P., Rybin, D., Throleifsson, G., Steinthordottir, V., Henneman, P., Grallert, H., Dehghan, A., Hottenga, J.J., Franklin, C., Navarro, P., Song, K., Goel, A., Perry, J.R.B, Egan, J.M., Lajunen, T., Grarup, N., Sparso, T., Doney, A., Voight, B.F., Stringham, H.M., Kanoni, M., Shrader, P., Cavalcanti-Proenca, C., Kumari, M., Qi, L., Timpson, N., Gieger, C., Zabena, C., Rocheleau, G., Ingelsson, E., Ping, A., O'Connell, J., Luan, J., Elliott, A., McCarroll, S.A., Payne, F., Roccasecca, R.M., Pattou, F., Sethupathy, P., Ardlie, K., Ariyurek, Y., Balkau, B., Barter, P., Beilby, J.P., Ben-Shlomo, Y., Benediktsson, R., Bennett, A.J., Bergmann, S., Bochud, M., Boerwinkle, E., Bonneford, A., Bonnycastle, L.L., Borch-Johnsen, K., Bottcher, Y., Brunner, E., Bumpstead, S.J., Charpenteir, G., Chen, Y-D., Chines, P., Clarke, R., Coin, L.J.M., Cooper, M.N., Cornelis, M., Crawford, G., Crisponi, L., Day, I.N.M., de Geus, E.J., Delplanque, J., Dina, C., Erdos, M., Fedson, A.C., Fischer-Rosinsky, A., Forouhi, N.G., Fox, C.S., Frants, R., Franzosi, M.G., Gilan, P., Goodarzi, M.O., Graessler, J., Groves, C.J., Grundy, S., Gwilliam, R., Gyllensten, U., Hadjadi, S., Hallmans, G., Hammond, N., Han, X., Hartikainen, A.L., Hassanali, N., Hayward, C., Heath, S.C., Hercberg, S., Herder, C., Hicks, A.A., Hillman, D.R., Hingorani, A., Hofman, A., Hui, J., Hung, J., Isomaa, B., Johnson, P.R.V., Jorgensen, T., Jula, A., Kaakinen, M., Kaprio, J., Kesaniemi, Y., Kivimaki, M., Knight, B.;, Koskinen, S., Kovacs, P., Kyvik, K.O., Lathrop, G.M., Lawlor, D.A., Le Bacquer, O., Lecoeur, C., Li, Y., Lyssenko, V., Mahley, R., Mangino, M., Manning, A.K., Martinez-Larrad, M.T., McAteer, J.B., McCulloch, L.J., McPherson, R., Meisinger, C., Melzer, D., Meyre, D., Mitchell, B.D., Morken, M.A., Mukherjee, S., Naitza, S., Narisu, N., Neville, M.J., Oostra, B.A., Orru, M., Pakyz, R., Palmer, C.N.A., Paolisso, G., Pattaro, C., Pearson, D., Peden, J.F., Pedersen, N.L., Perola, M., Pfeiffer, A.F.H., Pichler, I., Polasek, O., Posthuma, D., Potter, S.C., Pouta, A., Province, M.A., Psaty, B., Rathmann, W., Rayner, N.W., Rice, K., Ripatti, S., Rivandeneira, F., Roden, M., Rolandsson, O., Sandbaek, A., Sandhu, M., Sanna, S., Sayer, A.A., Scheet, P., Scott, L.J., Seedorf, U., Sharp, S.J., Shields, B., Sigurosson, G., Sijbrands, E.J.G., Silveira, A., Simpson, L., Singleton, A., Smith, N.L., Sovio, U., Swift, A., Syddall, H., Syvanen, A.C., Tanaka, T., Thoranrd, B., Tichet, J., Tonjes, A., Tuomi, T., Uitterlinden, A.G., van Dijk, K.W., van Hoek, M., Varma, D., Visvikis-Siest, S., Vitart, V., Vogelzangs, N., Waeber, G., Wagner, P.J., Walley, A., Walters, G.B., Ward, K.L., Watkins, H., Weddon, M.N., Wild, S.H., Willemsen, G., Witteman, J.C., Yarnell, J.W.G., Zeggini, E., Zelenika, D., Zethelius, B., Zhai, G., Zhao, J.H., Zillikens, M.C., Borecki, I.B., Loos, R.J., Meneton, P., Magnusson, P.K.E., Nathan, D.M., Williams, G.H., Hattersley, A.T., Silander, K., Salomaa, V., Smith, G.D., Bornstein, S.R., Schwarz, P., Spranger, J., Karpe, F., Shuldiner, A.R., Cooper, C., Dedoussis, G.V., Serrano-Rios, M., Morris, A.D., Lind, L., Palmer, L.J., Hu, F.B., Franks, P.W., Ebrahim, S., Marmot, M., Kao, W.H.L., Pankow, J.S., Sampson , M.J., Kuusisto, J., Laakso, M., Hansen, T., Pedersen, O., Pramstaller, P.P., Wichmann, H.E., Illig, T., Rudan, I., Wright, A.F., Stumvoll, M., Campbell, H., Wilson, J.F, Hamsten, A., Bergman, R.N., Buchanan, T.A., Collins, F.S., Mohlke, K.L., Tuomilehto, J., Valle, T.T., Altshuler, D., Rotter, J.I., Siscovick, D.S., Penninx, B.W.J.H., Boomsma, D.I., Deloukas, P., Spector, T.D., Frayling, T.M., Ferrucci, L., Kong, A., Thorsteindottir, U., Stefansson, K., van Duijn, C.M, Aulchenko, Y.S., Cao, A., Scuteri, A., Schlessinger, D., Uda, M., Ruokonen, A., Jarvelin, M.R., Waterworth, D.M., Vollenweider, P., Peltonen, L., Mooser, V., Abecasis, G.R., Wareham, N.J., Sladek, R., Froguel, P., Watanabe, R.M., Meigs, J.B., Groop, L., Boehnke, M., McCarthy, M.I., Florez, J. and Barrosofor, I. GIANT Consortium, DIAGRAM Consortium, Global BPgen Consortium, Procardis Consortium and MAGIC Investigators (2010) New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature Genetics, 42, (2), 105-116. (doi:10.1038/ng.520).

Durand, Adeline and Brown, Tom (2007) Synthesis and properties of oligonucleotides containing a cholesterol thymidine monomer. Nucleosides, Nucleotides and Nucleic Acids, 26, (6 & 7), 785-794. (doi:10.1080/15257770701501534).

Duranski, Mark R., Elrod, John W., Calvert, John W., Bryan, Nathan S., Feelisch, Martin and Lefer, David J. (2006) Genetic overexpression of eNOS attenuates hepatic ischemia-reperfusion injury. American Journal of Physiology: Heart and Circulatory Physiology, 291, (6), H2980-H2986. (doi:10.1152/ajpheart.01173.2005). (PMID:16877550).

Dyadyusha, L., Yin, H., Jaiswal, S., Brown, T., Baumberg, J.J., Booy, F.P. and Melvin, T. (2005) Quenching of CdSe quantum dot emission, a new approach for biosensing. Chemical Communications, 25, 3201-3203. (doi:10.1039/b500664c).

Dyer, Martin J.S., Akasaka, Takashi, Balasas, Theodore, Russell, Lisa, Sugimoto, Kei-Ji, Majid, Aneela, Brown, David G., Cain, Kelvin, Strefford, Jon C., Harrison, Christine J. and Siebert, Reiner (2005) Involvement of the CEBP gene family in four IGH@ chromosomal translocations in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Blood, 106, (11), p.797A.

Dyke, Gareth, de Kat, Roeland, Palmer, Colin, van der Kindere, Jacques, Naish, Darren and Ganapathisubramani, Bharathram (2013) Aerodynamic performance of the feathered dinosaur Microraptor and the evolution of feathered flight. Nature Communications, 4, 2489. (doi:10.1038/ncomms3489).

Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M. and Innes, A. Micheil (2013) Mutations in PIK3R1 Cause SHORT Syndrome. The American Journal of Human Genetics, 93, (1), 158-166. (doi:10.1016/j.ajhg.2013.06.005).

Eccles, D., Bunyan, D., Barker, S. and Castle, B. (2005) BRCA1 mutation and neuronal migration defect: Implications for chemoprevention. Journal of Medical Genetics, 42, (e24) (doi:10.1136/jmg.2004.028084).

Eccles, D.M. (2004) Hereditary cancer: guidelines in clinical practice. Breast and ovarian cancer genetics. Annals of Oncology, 15, (4), iv133-iv138. (doi:10.1093/annonc/mdh917).

Eccles, D.M. and Pichert, G. (2005) Familial non-BRCA1/BRCA2-associated breast cancer. The lancet oncology, 6, (9), 705-711. (doi:10.1016/S1470-2045(05)70318-1).

Eccles, Diana (2010) Development of genetic testing for breast, ovarian and colorectal cancer predisposition: a step closer to targeted cancer prevention. Current Drug Targets, 12, (13), 1974-1982. (PMID:21158705).

Eccles, Diana, Harvey, John, Bateman, Adrian and Ross, Fiona (2001) A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour. Journal of Medical Genetics, 38, (12), 861-863.

Eccles, Diana M. (2003) Genetic testing for BRCA1 mutation in the UK. The Lancet, 361, (9352), 178-179. (doi:10.1016/S0140-6736(03)12213-1).

Eccles, Diana M. (2008) Identification of personal risk of breast cancer: genetics. Breast Cancer Research, 10, (Suppl 4), p.S12. (doi:10.1186/bcr2172).

Eddy, C., Boyle, T.A., Maloney, V., Wellesley, D. and Crolla, J.A. (2005) Insertional interstitial duplication of 1(p34.3-p35.2): an association with co-arctation of the aorta and hypospadias? Journal of Medical Genetics, 42, pp.S77.

Eder-Azanza, L., Navarro, D., Aranaz, P., Novo, F.J., Cross, N.C.P. and Vizmanos, J.L. (2014) Bioinformatic analyses of CALR mutations in myeloproliferative neoplasms support a role in signaling. Leukemia, 28, (10), 2106-2109. (doi:10.1038/leu.2014.190).

Edwards, E. and Lucassen, A. (2011) The impact of cancer pathology confirmation on clinical management of a family history of cancer. Familial Cancer, 10, (2), 373-380. (doi:10.1007/s10689-010-9407-9). (PMID:21136175).

Edwards, Emma, Yearwood, Catharina, Sillibourne, Julie, Baralle, Diana and Eccles, Diana (2009) Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer. Familial Cancer, 8, (4), 479-482. (doi:10.1007/s10689-009-9270-8).

Edwards, M.H., Moon, R.J., Harvey, N.C. and Cooper, C. (2013) Epidemiology and genetics of postmenopausal osteoporosis. In, Stovall, D. (ed.) Osteoporosis: Diagnosis and Management. , John Wiley & Sons, 1-15.

Edwards, Mark, Moon, Rebecca, Harvey, Nick and Cooper, Cyrus (2013) Epidemiology of post-menopausal osteoporosis. In, Stovall, Dale W. (ed.) Osteoporosis: Diagnosis and Management. Chichester, GB, Wiley, 1-14.

Edwards, Richard J., Sockett, R. Elizabeth and Brookfield, John F.Y. (2002) A simple method for genome-wide screening for advantageous insertions of mobile DNAs in Escherichia coli. Current Biology, 12, (10), 863-867. (doi:10.1016/S0960-9822(02)00837-0).

Eggens, Veerle R.C., Barth, Peter G., Niermeijer, Jikke-Mien F., Berg, Jonathan N., Darin, Niklas, Dixit, Abhijit, Fluss, Joel, Foulds, Nicola, Fowler, Darren, Hortobágyi, Tibor, Jacques, Thomas, King, Mary D., Makrythanasis, Periklis, Máté, Adrienn, Nicoll, James A.R., O'Rourke, Declan, Price, Sue, Williams, Andrew N., Wilson, Louise, Suri, Mohnish, Sztriha, Laszlo, Dijns-de Wissel, Marit B., van Meegen, Mia T., van Ruissen, Fred, Aronica, Eleonora, Troost, Dirk, Majoie, Charles B.L.M., Marquering, Henk A., Poll-Thé, Bwee Tien and Baas, Frank (2014) EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet Journal of Rare Diseases, 9, (1), part 23 (doi:10.1186/1750-1172-9-23). (PMID:24524299).

Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R., Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I. Karen and Weksberg, Rosanna (2014) Clinical utility gene card for: Beckwith–Wiedemann syndrome. European Journal of Human Genetics, 22, (3), 1-4. (doi:10.1038/ejhg.2013.132). (PMID:23820480).

Eggermann, Thomas, Buiting, Karin and Temple, I. Karen (2011) Clinical utility gene card for: Silver–Russell syndrome. European Journal of Human Genetics, 19, (3) (doi:10.1038/ejhg.2010.202). (PMID:21150879).

Eischen, Christine M., Packham, Graham, Nip, John, Fee, Brian E., Hiebert, Scott W., Zambetti, Gerard P. and Cleveland, John L. (2001) Bcl-2 is an apoptotic target suppressed by both c-Myc and E2F-1. Oncogene, 20, (48), 6983-6993.

Ekholm, Anders, Jokinen, Jukka, McDonald, John W. and Smith, Peter W.F. (2006) A latent class model for bivariate binary responses from twins. Southampton, UK, University of Southampton, Southampton Statistical Sciences Research Institute, 23pp. (S3RI Methodology Working Papers, (M06/10) ).

El-Serafi, A.T., Wilson, D.I., Roach, H.I. and Oreffo, R.O.C. (2011) Developmental plasticity of human foetal femur-derived cells in pellet culture: self assembly of an osteoid shell around a cartilaginous core. European Cells & Materials, 21, 558-567. (PMID:21710446).

Elahi, M., Mukhtar, D., Kahraman, N., Cagampang, F., Ohri, S. and Hanson, M. (2007) Statin therapy improves blood presssure and lipid profiles in hypercholesterolemic mothers but not C-reactive proteins levels or endothelian progenitor cell expression. Early Human Development, 83, (Supplement 1), S60-S61. (doi:10.1016/S0378-3782(07)70099-3).

Elanko, Navaratnam, Sibbring, Julie S., Metcalfe, Kay A., Clayton-Smith, Jill, Donnai, Dian, Temple, I. Karen, Wall, Steven A. and Wilkie, Andrew O.M. (2001) Research Article. A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Human mutation, 18, (6), 535-541. (doi:10.1002/humu.1230).

Elia, Josephine, Glessner, Joseph T, Wang, Kai, Takahashi, Nagahide, Shtir, Corina J, Hadley, Dexter, Sleiman, Patrick M A, Zhang, Haitao, Kim, Cecilia E, Robison, Reid, Lyon, Gholson J, Flory, James H, Bradfield, Jonathan P, Imielinski, Marcin, Hou, Cuiping, Frackelton, Edward C, Chiavacci, Rosetta M, Sakurai, Takeshi, Rabin, Cara, Middleton, Frank A, Thomas, Kelly A, Garris, Maria, Mentch, Frank, Freitag, Christine M, Steinhausen, Hans-Christoph, Todorov, Alexandre A, Reif, Andreas, Rothenberger, Aribert, Franke, Barbara, Mick, Eric O, Roeyers, Herbert, Buitelaar, Jan, Lesch, Klaus-Peter, Banaschewski, Tobias, Ebstein, Richard P, Mulas, Fernando, Oades, Robert D, Sergeant, Joseph, Sonuga-Barke, Edmund J.S., Renner, Tobias J, Romanos, Marcel, Romanos, Jasmin, Warnke, Andreas, Walitza, Susanne, Meyer, Jobst, Pálmason, Haukur, Seitz, Christiane, Loo, Sandra K, Smalley, Susan L, Biederman, Joseph, Kent, Lindsey, Asherson, Philip, Anney, Richard J L, Gaynor, J William, Shaw, Philip, Devoto, Marcella, White, Peter S, Grant, Struan F A, Buxbaum, Joseph D, Rapoport, Judith L, Williams, Nigel M, Nelson, Stanley F, Faraone, Stephen V and Hakonarson, Hakon (2011) Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nature Genetics, 44, (1), 78-84. (doi:10.1038/ng.1013).

Ellard, S., Flanagan, S.E., Girard, C.A., Patch, A.M., Harries, L.W., Parrish, A., Edghill, E.L., Mackay, D.J., Proks, P., Shimomura, K.H., Carson, D.J., Shield, J.P., Hattersley, A.T. and Ashcroft, F.M. (2007) Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. American Journal of Human Genetics, 81, (2), 375-382. (doi:10.1086/519174).

Ellard, S., Gloyn, A.L., Edghill, E.L., Pearson, E.R., Mackay, D., Temple, I.K., Shield, J., Noyes, K., Gillespie, K.M., Lambert, A.P. and Gale, E.A.M. (2004) Activating mutations in the KCNJ11 gene encoding the ATP-sensitive potassium channel subunit Kir6.2 are associated with a spectrum of early-onset syndromic and non-syndromic diabetes. Journal of Medical Genetics, 41, pp.S19.

Ellard, Sian, Shields, Beverley, Tysoe, Carolyn, Treacy, Rebecca, Yau, Shu, Mattocks, Christopher and Wallace, Andrew (2009) Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. Genetic Testing and Molecular Biomarkers, 13, (3), 381-386. (10.1089=gtmb.2008.0096). (PMID:19405871).

Elles, R., Cross, N., Gokhale, D., Harvey, J., Ramsden, S., Barber, J., Wallace, A. and Day, I. (2002) The National Genetics Reference Laboratories. Journal of Medical Genetics, 39, pp.S26.

Elling, Christian, Erben, Phillipp, Walz, Christoph, Frickenhaus, Marie, Schemionek, Mirle, Stehling, Martin, Serve, Hubert, Cross, Nicholas C.P., Hochhaus, Andreas, Hofmann, Wolf-Karsten, Berdel, Wolfgang E., Muller-Tidow, Carsten, Reiter, Andreas and Koschmieder, Steffen (2011) Novel imatinib-sensitive PDGFRA activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease. Blood, 117, (10), 2935-2943. (doi:10.1182/blood-2010-05-286757). (PMID:21224473).

Ellis, Nathan A., Thompson, Ella R., Rowley, Simone M., Sawyer, Sarah, kConFab, , Eccles, Diana M., Trainer, Alison H., Mitchell, Gillian, James, Paul A. and Campbell, Ian G. (2013) Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer. PLoS ONE, 8, (1), e54772. (doi:10.1371/journal.pone.0054772).

Elrod, John W., Greer, James J.M., Bryan, Nathan S., Langston, Will, Szot, Jeffrey F., Gebregzlabher, Henock, Janssens, Stefan, Feelisch, Martin and Lefer, David J. (2006) Cardiomyocyte-specific overexpression of NO synthase-3 protects against myocardial ischemia-reperfusion injury. Arteriosclerosis, Thrombosis, and Vascular Biology, 26, (7), 1517-1523. (doi:10.1161/01.ATV.0000224324.52466.e6). (PMID:16645153).

Else, Monica, Dearden, Claire E., Matutes, Estella, Forconi, Francesco, Lauria, Francesco, Ahmad, Humayun, Kelly, Susan, Liyanage, Anandika, Ratnayake, Vijitha, Shankari, Jagadeesan, Whalley, Ioana and Catovsky, Daniel (2011) Rituximab with pentostatin or cladribine: an effective combination treatment for hairy cell leukemia after disease recurrence. Leukemia and Lymphoma, 52, supplement 2, 75-78. (doi:10.3109/10428194.2011.568650). (PMID:21504288).

Else, Monica, Dearden, Claire E., Matutes, Estella, Garcia-Talavera, Juan, Rohatiner, Ama Z.S., Johnson, Steve A.N., O'Connor, Nigel T.J., Haynes, Andy, Osuji, Nnenna, Forconi, Francesco, Lauria, Francesco and Catovsky, Daniel (2009) Long-term follow-up of 233 patients with hairy cell leukaemia, treated initially with pentostatin or cladribine, at a median of 16 years from diagnosis. British Journal of Haematology, 145, (6), 733-740. (doi:10.1111/j.1365-2141.2009.07668.x). (PMID:19344416).

Emery, Jon, Lucassen, Anneke and Murphy, Michael (2001) Common hereditary cancers and implications for primary care. Lancet, 358, (9275), 56-63. (doi:10.1016/S0140-6736(00)05257-0).

England, Anna, Valdes, Ana M., Slater-Jefferies, Joanne L., Gill, Rosalynn, Howell, W. Martin, Calder, Philip C. and Grimble, Robert F. (2012) Variants in the genes encoding TNF-α, IL-10, and GSTP1 influence the effect of a-tocopherol on inflammatory cell responses in healthy men. American Journal of Clinical Nutrition, 95, (6), 1461-1467. (doi:10.3945/ajcn.111.012781). (PMID:22572643).

Ennis, S., Collins, A. and Morton, N.E. (2003) The use of SNP-based haplotypes and LD blocks to positionally clone modifying determinants of expansion of the Fragile X triplet repeat. American Journal of Human Genetics, 73, (5), 377.

Ennis, S., Collins, A. and Morton, N.E. (2003) SNP-based haplotypes and LD blocks in the fragile X region. Journal of Medical Genetics, 40, p.S15.

Ennis, S., Collins, A., Murray, A., Brightwell, G. and Morton, N.E. (2001) LD, FRAX and sequence-based maps. American Journal of Human Genetics, 69, (4), supplement 1, 466.

Ennis, S., Collins, A., Murray, A., MacPherson, J.N. and Morton, N.E. (2000) Allelic association in the FRAX region. Annals of Human Genetics, 64, (6), 513-518. (doi:10.1046/j.1469-1809.2000.6460513.x). (PMID:11281215).

Ennis, S., Collins, A., Tapper, W., Murray, A., MacPherson, J.N. and Morton, N.E. (2001) Allelic association discriminates draft orders. Annals of Human Genetics, 65, (5), 503-504. (doi:10.1046/j.1469-1809.2001.6550503.x).

Ennis, S., Gibson, J., Griffiths, H., Bunyan, D., Cree, A.J., Robinson, D., Self, J., MacLeod, A. and Lotery, A. (2010) Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients. Eye, 24, 328-333. (doi:10.1038/eye.2009.73).

Ennis, S., Murray, A., Brightwell, G., Morton, N.E. and Jacobs, P.A. (2007) Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes. Human Mutation, 28, (12), 1216-1224. (doi:10.1002/humu.20600).

Ennis, Sarah (2008) Linkage disequilibrium as a tool for detecting signatures of natural selection. In, Collins, Andrew R. (ed.) Linkage Disequilibrium and Association Mapping: Analysis and Applications. Totowa, USA, Humana, 59-70. (Methods in Molecular Biology, 376). (doi:10.1007/978-1-59745-389-9_5).

Ennis, Sarah (2013) IPF and chromosome 11p: lightning strikes twice? The Lancet Respiratory Medicine, 1, (4), 278-279. (doi:10.1016/S2213-2600(13)70050-X). (PMID:24429140).

Ennis, Sarah, Gibson, Jane, Cree, Angela J., Collins, Andrew and Lotery, Andrew J. (2010) Support for the involvement of complement factor I in age-related macular degeneration. European Journal of Human Genetics, 18, (1), 15-16. (doi:10.1038/ejhg.2009.113).

Ennis, Sarah, Goverdhan, Srini, Cree, Angela, Hoh, Josephine, Collins, Andrew and Lotery, Andrew (2007) Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region. British Journal of Ophthalmology, 91, (7), 966-970. (doi:10.1136/bjo.2007.114090).

Ennis, Sarah, Jomary, Catherine, Mullins, Robert, Cree, Angela, Chen, Xiaoli, Macleod, Alex, Jones, Stephen, Collins, Andrew, Stone, Edwin and Lotery, Andrew (2008) Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. Lancet, 372, (9652), 1828-1834. (doi:10.1016/S0140-6736(08)61348-3). (PMID:18842294).

Ennis, Sarah, Maniatis, Nikolas and Collins, Andrew (2001) Allelic association and disease mapping. Briefings in Bioinformatics, 2, (4), 375-387. (doi:10.1093/bib/2.4.375).

Ennis, Sarah, Murray, Anna and Morton, Newton E. (2001) Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect? Human Mutation, 18, (1), 61-69. (doi:10.1002/humu.1150).

Ennis, Sarah, Ward, Daniel and Murray, Anna (2006) Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. European Journal of Human Genetics, 14, (2), 253-255. (doi:10.1038/sj.ejhg.5201510).

Erben, Philipp, Gosenca, Darko, Muller, Martin C., Reinhard, Jelena, Score, Joannah, del Valle, Francesco, Walz, Chistoph, Mix, Jurgen, Metzgeroth, Georgia, Ernst, Thomas, Haferlach, Claudia, Cross, Nicholas C.P., Hochhaus, Andreas and Reiter, Andreas (2010) Screening for diverse PDGFRA or PDGFRB by fusion genes is facilitated by generic quantitative RT-PCR. Haematologica, 95, (5), 738-744. (doi:10.3324/haematol.2009.016345).

Erben, Philipp, Schwaab, Juliana, Metzgeroth, Georgia, Horny, Hans-Peter, Jawhar, Mohamad, Sotlar, Karl, Fabarius, Alice, Teichmann, Martina, Schneider, Sven, Ernst, Thomas, Müller, Martin C., Giehl, Michelle, Marx, Alexander, Hartmann, Karin, Hochhaus, Andreas, Hofmann, Wolf-Karsten, Cross, Nicholas C.P. and Reiter, Andreas (2014) The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. Annals of Hematology, 93, (1), 81-88. (doi:10.1007/s00277-013-1964-1). (PMID:24281161).

Erenpreisa, J., Kalejs, M., Ianzini, F., Kosmacek, E.A., Mackey, M.A., Emzinsh, D., Cragg, M.S., Ivanov, A. and Illidge, T.M. (2005) Segregation of genomes in polyploid tumour cells following mitotic catastrophe. Cell biology international, 29, (12), 1005-1011. (doi:10.1016/j.cellbi.2005.10.008).

Eriksson, J., Lindi, V., Uusitupa, M., Forsen, T., Laakso, M., Osmond, C. and Barker, D. (2003) The effects of the Pro12Ala polymorphism of the PPARγ-2 gene on lipid metabolism interact with body size at birth. Clinical Genetics, 64, (4), 366-370. (doi:10.1034/j.1399-0004.2003.00150.x).

Eriksson, Johan G., Lindi, Virpi, Uusitupa, Matti, Forsen, Tom J., Laakso, Markku, Osmond, Clive and Barker, David J. P. (2002) The effects of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-γ2 gene on insulin sensitivity and insulin metabolism interact with size at birth. Diabetes, 51, (7), 2321-2324.

Eriksson, Per, Deguchi, Hiroyuki, Samnegard, Ann, Lundman, Pia, Boquist, Susanna, Tornvall, Per, Ericsson, Carl-Goran, Bergstrand, Lott, Hansson, Lars-Olof, Ye, Shu and Hamsten, Anders (2004) Human evidence that the Cystatin C Gene is implicated in focal progression of Coronary Artery Disease. Arteriosclerosis, Thrombosis, and Vascular Biology, 24, (3), 551-557. (doi:10.1161/01.ATV.0000117180.57731.36).

Ernst, Thomas, Chase, Andrew, Zoi, Katerina, Waghorn, Katherine, Hidalgo-Curtis, Claire, Score, Joannah, Jones, Amy, Grand, Frances, Reiter, Andreas, Hochhaus, Andreas and Cross, Nicholas C. P. (2010) Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms. Haematologica, 95, (9), 1473-1480. (doi:10.3324/haematol.2010.021808).

Ernst, Thomas, Chase, Andrew J., Score, Joannah, Hidalgo-Curtis, Claire E., Bryant, Catherine, Jones, Amy V., Waghorn, Katherine, Zoi, Katerina, Ross, Fiona M., Reiter, Andreas, Hochhaus, Andreas, Drexler, Hans G., Duncombe, Andrew, Cervantes, Francisco, Oscier, David, Boultwood, Jacqueline, Grand, Francis H. and Cross, Nicholas C.P. (2010) Letter. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nature Genetics, 42, (8), 722-726. (doi:10.1038/ng.621).

Ernst, Thomas, Score, Joannah, Deininger, Michael, Hidalgo-Curtis, Claire, Lackie, Peter, Ershler, William B., Goldman, John M., Cross, Nicholas C.P. and Grand, Francis H. (2011) Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia. British Journal of Haematology, 153, (1), 43-46. (doi:10.1111/j.1365-2141.2010.08457.x).

Erotokritou-Mulligan, Ioulietta, Bassett, E. Eryl, Cowan, David A., Bartlett, Christiaan, Milward, Polly, Sartorio, Alessandro, Sönksen, Peter H. and Holt, Richard I.G. (2010) The use of growth hormone (GH)-dependent markers in the detection of GH abuse in sport: physiological intra-individual variation of IGF-I, type 3 pro-collagen (P-III-P) and the GH-2000 detection score. Clinical Endocrinology, 72, (4), 520-526. (doi:10.1111/j.1365-2265.2009.03668.x).

Errington, F., Jones, J., Merrick, A., Bateman, A., Harrington, K., Gough, M., O'Donell, D., Selby, P., Vile, R. and Melcher, A. (2006) Fusogenic membrane glycoprotein-mediated tumour cell fusion activates human dendritic cells for enhanced IL-12 production and T-cell priming. Gene Therapy, 13, (2), 138-149. (doi:10.1038/sj.gt.3302609).

Erten, Sinan, Bebek, Gurkan, Ewing, Rob M. and Koyutürk, Mehmet (2011) DADA: Degree-Aware Algorithms for Network-Based Disease Gene Prioritization. BioData Mining, 4, 19-[20pp]. (doi:10.1186/1756-0381-4-19). (PMID:21699738).

Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Duncan, Emma L., Ntzani, Evangelia E., Oei, Ling, Albagha, Omar M. E., Amin, Najaf, Kemp, John P., Koller, Daniel L., Li, Guo, Liu, Ching-Ti, Minster, Ryan L., Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Yerges-Armstrong, Laura M., Zheng, Hou-Feng, Alonso, Nerea, Eriksson, Joel, Kammerer, Candace M., Kaptoge, Stephen K., Leo, Paul J., Thorleifsson, Gudmar, Wilson, Scott G., Wilson, James F., Aalto, Ville, Alen, Markku, Aragaki, Aaron K., Aspelund, Thor, Center, Jacqueline R., Dailiana, Zoe, Duggan, David J., Garcia, Melissa, Garcia-Giralt, Natàlia, Giroux, Sylvie, Hallmans, Göran, Hocking, Lynne J., Husted, Lise Bjerre, Jameson, Karen A., Khusainova, Rita, Kim, Ghi Su, Kooperberg, Charles, Koromila, Theodora, Kruk, Marcin, Laaksonen, Marika, Lacroix, Andrea Z., Lee, Seung Hun, Leung, Ping C., Lewis, Joshua R., Masi, Laura, Mencej-Bedrac, Simona, Nguyen, Tuan V., Nogues, Xavier, Patel, Millan S., Prezelj, Janez, Rose, Lynda M., Scollen, Serena, Siggeirsdottir, Kristin, Smith, Albert V., Svensson, Olle, Trompet, Stella, Trummer, Olivia, van Schoor, Natasja M., Woo, Jean, Zhu, Kun, Balcells, Susana, Brandi, Maria Luisa, Buckley, Brendan M., Cheng, Sulin, Christiansen, Claus, Cooper, Cyrus, Dedoussis, George, Ford, Ian, Frost, Morten, Goltzman, David, González-Macías, Jesús, Kähönen, Mika, Karlsson, Magnus, Khusnutdinova, Elza, Koh, Jung-Min, Kollia, Panagoula, Langdahl, Bente Lomholt, Leslie, William D., Lips, Paul, Ljunggren, Östen, Lorenc, Roman S., Marc, Janja, Mellström, Dan, Obermayer-Pietsch, Barbara, Olmos, José M., Pettersson-Kymmer, Ulrika, Reid, David M., Riancho, José A., Ridker, Paul M., Rousseau, François, lagboom, P. Eline S., Tang, Nelson L. S., Urreizti, Roser, Van Hul, Wim, Viikari, Jorma, Zarrabeitia, María T., Aulchenko, Yurii S., Castano-Betancourt, Martha, Grundberg, Elin, Herrera, Lizbeth, Ingvarsson, Thorvaldur, Johannsdottir, Hrefna, Kwan, Tony, Li, Rui, Luben, Robert, Medina-Gómez, Carolina, Th Palsson, Stefan, Reppe, Sjur, Rotter, Jerome I., Sigurdsson, Gunnar, van Meurs, Joyce B. J., Verlaan, Dominique, Williams, Frances M. K., Wood, Andrew R., Zhou, Yanhua, Gautvik, Kaare M., Pastinen, Tomi, Raychaudhuri, Soumya, Cauley, Jane A., Chasman, Daniel I., Clark, Graeme R., Cummings, Steven R., Danoy, Patrick, Dennison, Elaine M., Eastell, Richard, Eisman, John A., Gudnason, Vilmundur, Hofman, Albert, Jackson, Rebecca D., Jones, Graeme, Jukema, J. Wouter, Khaw, Kay-Tee, Lehtimäki, Terho, Liu, Yongmei, Lorentzon, Mattias, McCloskey, Eugene, Mitchell, Braxton D., Nandakumar, Kannabiran, Nicholson, Geoffrey C., Oostra, Ben A., Peacock, Munro, Pols, Huibert A. P., Prince, Richard L., Raitakari, Olli, Reid, Ian R., Robbins, John, Sambrook, Philip N., Sham, Pak Chung, Shuldiner, Alan R., Tylavsky, Frances A., van Duijn, Cornelia M., Wareham, Nick J., Cupples, L. Adrienne, Econs, Michael J., Evans, David M., Harris, Tamara B., Kung, Annie Wai Chee, Psaty, Bruce M., Reeve, Jonathan, Spector, Timothy D., Streeten, Elizabeth A., Zillikens, M. Carola, Thorsteinsdottir, Unnur, Ohlsson, Claes, Karasik, David, Richards, J. Brent, Brown, Matthew A., Stefansson, Kari, Uitterlinden, André G., Ralston, Stuart H., Ioannidis, John P. A., Kiel, Douglas P. and Rivadeneira, Fernando (2012) Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genetics, 44, (5), 491-501. (doi:10.1038/ng.2249).

Evangelou, Evangelos, Valdes, Ana M., Kerkhof, Hanneke J., Styrkarsdottir, Unnur, Zhu, YanYan, Meulenbelt , Ingrid, Lories, Rik J., Karassa, Fontini B., Tylzanowski, Przemko, Bos, Steffan D., Akune, Toru, Arden, Nigel K., Carr, Andrew, Chapman, Kay, Cupples, L. Adrienne, Dai, Jin, Deloukas, Panos, Doherty, Sally, Engstrom, Gunnar, Gonzalez, Antonio, Halldorsson, Bjarni V., Hammond, Christina L., Hart, Deborah J., Helgadottir, Hafdis, Hofman, Albert, Ikegawa, Shiro, Ingvasson, Thorvaldur, Jiang, Qing, Jonsson, Helgi, Kaprio, Jaakko, Kawaguchi, Hiroshi, Kisand, Kalle, Kloppenburg, Margreet, Kujala, Urho M., Lohmander, L. Stefan, Loughlin, John, Luyten, Frank P., Mabuchi, Akihiko, McCaskie, Andrew, Nakajima, Masahiro, Nillson, Peter M., Nishida, Nao, Ollier, William E., Panoutsopoulou, Kalliope, van der Putte, Tom, Ralston, Stuart H., Rivadeneira, Fernado, Saarela, Janna, Schulte-Merker, Stefan, Shi, Dongquan, Slagboom, P. Eline, Sudo, Akhiro, Tamm, Agu, Tamm, Ann, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tsezou, Aapasia, Wallis, Gillian A., Wilkinson, J. Mark, Yoshimura, Noriko, Zeggini, Eleftheria, Zhai, Guangju, Zhang, Feng, Jonsdottir, Ingileif, Uitterlinden, Andre G., Felson, David T., van Meurs, Joyce B., Stefansson, Kari, Ioannidis, John P. and Spector, Timothy D. arcOGEN Consortium and Translation Research in Europe Applied Technologies for Osteoarthritis (2011) Meta-analysis of genome-wide associations studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Annals of the Rheumatic Diseases, 70, (2), 349-355. (doi:10.1136/ard.2010.132787 ). (PMID:21068099).

Evans, D. G. R., Eccles, D. M., Rahman, N., Young, K., Bulman, M., Amir, E., Shenton, A., Howell, A. and Lalloo, F. (2004) A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. Journal of Medical Genetics, 41, (6), 474-480.

Evans, D.G., Howell, A., Ward, D., Lalloo, F., Jones, J.L. and Eccles, Diana (2011) Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer. Journal of Medical Genetics, 48, (8), 520-522. (doi:10.1136/jmedgenet-2011-100006). (PMID:21653198).

Evans, D.G.R., Baildam, A.D., Anderson, E., Brain, A., Shenton, A., Vasen, H.F.A., Eccles, D., Lucassen, A., Pichert, G., Hamed, H., Moller, P., Maehle, L., Morrison, P.J., Stoppart-Lyonnet, D., Gregory, H., Smyth, E., Niederacher, D., Nestle-Krämling, C., Campbell, J., Hopwood, P., Lalloo, F. and Howell, A. (2009) Risk reducing mastectomy: outcomes in 10 European centres. Journal of Medical Genetics, 46, (4), 254-258. (doi:10.1136/jmg.2008.062232).

Evans, Nicholas D., Minelli, Caterina, Gentleman, Eileen, LaPointe, Vanessa, Patankar, Sameer N., Kallivretaki, Maria, Chen, Xinyong, Roberts, Clive J. and Stevens, Molly M. (2009) Substrate stiffness affects early differentiation events in embryonic stem cells. European cells and materials, 18, 1-14. (PMID:19768669).

Evans, Nicholas D. and Polak, Julia M. (2008) Embryonic stem cells and their application in regenerative medicine and tissue engineering. In, Gene and Cell Therapy: Therapeutic Mechanisms and Strategies. 3rd edition. Abingdon, GB, CRC Press, 581-594.

Ewing, R.M., Jenkins, G.I. and Langdale, J.A. (1998) Transcripts of maize RbcS genes accumulate differentially in C3 and C4 tissues. Plant Molecular Biology, 36, (4), 593-599. (doi:10.1023/A:1005947306667). (PMID:9484454).

Ewing, Rob M., Ben Kahla, A., Poirot, O., Lopez, F., Audic, S. and Claverie, J.M. (1999) Large-scale statistical analyses of rice ESTs reveal correlated patterns of gene expression. Genome Research, 9, (10), 950-959. (doi:10.1101/gr.9.10.950). (PMID:10523523).

Eyre, S., Bowes, J., Diogo, D., Lee, A., Barton, A., Martin, P., Zhernakkova, A., Stahl, E., Viatte, S., McAllister, K., Amos, C.I., Padyukov, L., Toes, R.E., Huizinga, T.W., Wijmenga, C., Trynka, G., Franke, L., Westra, H.J., Alfredsson, L., Hu, X., Sandor, C., de Bakker, P.I., Davila, S., Khor, C.C., Heng, K.K., Andrews, R., Edkins, S., Hunt, S.E., Langford, C., Symmons, D., Issacs, J., Concannon, P., Onengut-Gumuscu, S., Rich, S.S., Deloukas, P., Gonzalez-Gay, M.A., Rodriguez-Rodriguez, L., Arlsetig, L., Martin, J., Rantapaa-Dahlqvist, S., Plenge, R.M., Raychaudhuri, S., Klareskog, L., Gregersen, P.K., Worthington, J., Arden, N.K., Cooper, C. and Dennison, E.M. (2012) Letter. High-density genetic mapping identifies new susceptability loci for rheumatoid arthritis. Nature Genetics, 44, (12), 1336-1340. (doi:10.1038/ng.2462). (PMID:23143596).

Ezard, T.H.G. and Travis, J.M.J. (2006) The impact of habitat loss and fragmentation on genetic drift and fixation time. Oikos, 114, (2), 367-375. (doi:10.1111/j.2006.0030-1299.14778.x).

Ezzikouri, Sayeh, Alaoui, Rhimou, Rebbani, Khadija, Brahim, Ikram, Fakhir, Fatima-Zohra, Nadir, Salwa, Diepolder, Helmut, Khakoo, Salim I., Thursz, Mark and Benjelloun, Soumaya (2013) Genetic variation in the interleukin-28B gene is associated with spontaneous clearance and progression of hepatitis C virus in Moroccan patients. PLoS ONE, 8, (1), e54793. (doi:10.1371/journal.pone.0054793). (PMID:23358556).

Fabbri, Alberto, Gozzetti, Alessandro, Forconi, Francesco and Lauria, Francesco (2010) Correspondence. Predicting the clinical course of Hodgkin lymphoma. Nature Reviews Clinical Oncology, 7, (8) (doi:10.1038/nrclinonc.2010.36-c1). (PMID:20700915).

Fabbri, Giulia, Rasi, Silvia, Rossi, Davide, Trifonov, Vladimir, Khiabanian, Hossein, Ma, Jing, Grunn, Adina, Fangazio, Marco, Capello, Daniela, Monti, Sara, Cresta, Stefania, Gargiulo, Ernesto, Forconi, Francesco, Guarini, Anna, Arcaini, Luca, Paulli, Marco, Laurenti, Luca, Larocca, Luigi M., Marasca, Roberto, Gattei, Valter, Oscier, David, Bertoni, Francesco, Mullighan, Charles G., Foá, Robin, Pasqualucci, Laura, Rabadan, Raul, Dalla-Favera, Riccardo and Gaidano, Gianluca (2011) Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. Journal of Experimental Medicine, 208, (7), 1389-1401. (doi:10.1084/jem.20110921). (PMID:21670202).

Fagnani, M., Barash, Y., Misquitta, C., Pan, Q., Saltzman, A.L., Shai, O., Lee, L., Rozenhek, A., Mohammad, N., Willaime-Morawek, S., Babak, T., Zhang, W., Hughes, T.R., van der Kooy, D., Frey, B.J. and Blencowe, B.J. (2007) Functional coordination of alternative splicing in the mammalian central nervous system. Genome Biology, 8, (6), R108. (doi:10.1186/gb-2007-8-6-r108).

Fairbanks, L.D., Marinaki, A.M., Carrey, E.A., Hammans, S.R. and Duley, J.A. (2002) Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE). Journal of Inherited Metabolic Disease, 25, (7), 603-604. (doi.1023/A:1022007827133).

Fant, Kristina, Esbjörner, Elin, Jenkins, Alan, Grossel, Martin C., Lincoln, Per and Nordén, Bengt (2010) Effects of PEGylation and acetylation of PAMAM dendrimers on DNA Binding, cytotoxicity and in vitro transfection efficiency. Molecular Pharmaceutics, 7, (5), 1734-1746. (doi:10.1021/mp1001312). (PMID:20695423).

Fauser, Bart C.J.M. and Macklon, N.S. (1999) FSH and follicular development. In, Jansen, R. and Mortimer, D. (eds.) Towards Reproductive Certainty, Fertility and Genetics beyond 1999 - Proceedings of the 11th World Congress on In Vitro Fertilization and Human Reproductive Genetics. London, GB, Informa Healthcare, 177-185.

Federenko, Ilona S., Schlotz, Wolff, Kirschbaum, Clemens, Bartels, Meike, Hellhammer, Dirk H. and Wüst, Stefan (2006) The heritability of perceived stress. Psychological Medicine, 36, (3), 375-385. (doi:10.1017/S0033291705006616).

Feelisch, Martin and Martin, John F. (1995) The early role of nitric oxide in evolution. Trends in Ecology & Evolution, 10, (12), 496-499. (doi:10.1016/S0169-5347(00)89206-X). (PMID:21237124).

Ferdinandusse, Sacha, Barker, Simon, Lachlan, Katherine, Duran, Marinus, Waterham, Hans R., Wanders, Ronald J. A. and Hammans, Simon (2010) Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. Journal of Neurology, Neurosurgery and Psychiatry, 81, (3), 310-312. (doi:10.1136/jnnp.2009.176255).

Fernandez-Mercado, Marta, Pellagatti, Andrea, Di Genua, Cristina, Larrayoz, Maria Jose, Winkelmann, Nils, Aranaz, Paula, Burns, Adam, Schuh, Anna, Calasanz, Maria Jose, Cross, Nicholas C. P. and Boultwood, Jacqueline (2013) Mutations inSETBP1are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. British Journal of Haematology, 163, (2), 235-239. (doi:10.1111/bjh.12491). (PMID:23889083).

Ferrari, Julia, Muller, Christine B., Kraaijeveld, Alex R. and Godfray, H. Charles J. (2001) Clonal variation and covariation in aphid resistance to parasitoids and a pathogen. Evolution: International Journal of Organic Evolution, 55, (9), 1805-1814. (doi:10.1554/0014-3820(2001)055[1805:CVACIA]2.0.CO;2).

Fickelscher, I., Liehr, T., Watts, K., Bryant, V., Barber, J.C., Heidemann, S., Siebert, R., Hertz, J.M., Tumer, Z. and Simon Thomas, N. (2007) The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. American Journal of Human Genetics, 81, (4), 847-856. (doi:10.1086/521226).

Fiegler, H., Gribble, S.M., Burford, D.C., Carr, P., Prigmore, E., Porter, K.M., Clegg, S., Crolla, J.A., Dennis, N.R., Jacobs, P. and Carter, N.P. (2003) Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays. Journal of Medical Genetics, 40, (9), 664-670. (doi:10.1136/jmg.40.9.664).

Fisher, A., Blair, A., Strike, P. and Ross, F.M. (2007) B lymphoid growth factors significantly increase chromosome quality in cytogenetic cultures of ALL. Journal of Medical Genetics, 44, pp.S33.

Fisher, A., Fisher, A.M., Cabanas, E.D., Protheroe, R., Cranfield, T., Duncombe, A. and Ross, F.M. (2005) Cytogenetic analysis can be the most important diagnostic indicator in hepatosplenic T-cell lymphoma (HSTCL). Journal of Medical Genetics, 42, pp.S72.

Fisher, A., Thomas, S., Joyce, C., Strike, P. and Temple, K. (2001) A patient with growth retardation and a duplication of the Beckwith Wiedemann critical region of maternal origin. Journal of Medical Genetics, 38, pp.S19.

Fisher, A., Tyreman, C., Cullis, J. and Ross, F.M. (2003) Five cases of myeloid neoplasia with idic(21)(q22): a possible novel mechanism of chromosome 21 amplification. Journal of Medical Genetics, 40, pp.S50.

Fisher, A., Tyreman, C., Symons, C., Davis, L., Strike, P. and Ross, F. (2004) Improving the mitotic index in cultures of bone marrow with myeloid neoplasia. Journal of Medical Genetics, 41, pp.S52.

Fisher, A.M., Strike, P., Scott, C. and Moorman, A.V. (2005) Breakpoints of variant 9;22 translocations in chronic myeloid leukemia locate preferentially in the CG-richest regions of the genome. Genes, chromosomes and cancer, 43, (4), 383-389. (doi:10.1002/gcc.20196).

Fisher, Andrew M., Thomas, Simon N., Cockwell, Annette, Stecko, Olga, Kerr, Bronwyn, Temple, Karen I. and Clayton, Peter (2002) Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Human Genetics, 111, (3), 290-296. (doi:10.1007/s00439-002-0787-2).

Flanagan, Niamh, Healy, Eugene, Ray, Amanda, Philips, Sion, Todd, Carole, Jackson, Ian J., Birch-Machin, Mark A. and Rees, Jonathan L. (2000) Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Human Molecular Genetics, 9, (17), 2531-2537. (doi:10.1093/hmg/9.17.2531 ). (PMID:11030758).

Flanagan, S.E., Mackay, D.J.G., Greeley, S.A.W., McDonald, T.J., Mericq, V., Hassing, J., Richmond, E.J., Martin, W.R., Acerini, C., Kaulfers, A.M., Flynn, D.P., Popovic, J., Sperling, M.A., Hussain, K., Ellard, S. and Hattersley, A.T. (2013) Research letter. Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia, 56, (1), 218-221. (doi:10.1007/s00125-012-2766-z). (PMID:23111732).

Flavell, D., Talmud, P.J., Day, I.N.M., Miller, G. and Humphries, S.E. (2001) Gene: environment interactions in determination of risk of coronary artery disease. Journal of Medical Genetics, 38, pp.S12.

Fleming, T.P., Javed, Q., Collins, J.E. and Hay, M. (1993) Biogenesis of structural intercellular junctions during cleavage in the mouse embryo. Journal of Cell Science, 17, 119-125. (PMID:8144686).

Fliers, Ellen A., Vasquez, Alejandro Arias, Poelmans, Geert, Rommelse, Nanda, Altink, Marieke, Buschgens, Cathelijne, Asherson, Philip, Banaschewski, Tobias, Ebstein, Richard, Gill, Michael, Miranda, Ana, Mulas, Fernando, Oades, Robert D., Roeyers, Herbert, Rothenberger, Aribert, Sergeant, Joseph, Sonuga-Barke, Edmund, Steinhausen, Hans-Christoph, Faraone, Stephen V., Buitelaar, Jan K. and Franke, Barbara (2011) Genome-wide association study of motor coordination problems in ADHD identifies genes for brain and muscle function. World Journal of Biological Psychiatry (doi:10.3109/15622975.2011.560279). (PMID:21473668).

Fonseca, Bruno D., Alain, Tommy, Finestone, Leona K., Huang, Brandon P H., Rolfe, Mark, Jiang, Tian, Yao, Zhong, Hernandez, Greco, Bennett, Christopher F. and Proud, Christopher G. (2011) Pharmacological and genetic evaluation of proposed roles of mitogen-activated protein kinase/extracellular signal-regulated kinase kinase (MEK), extracellular signal-regulated kinase (ERK), and p90(RSK) in the control of mTORC1 protein signaling by phorbol esters. Journal of Biological Chemistry, 286, (31), 27111-27122. (doi:10.1074/jbc.M111.260794). (PMID:21659537).

Forconi, Francesco, Cencini, Emanuele, Sicuranza, Anna, Sozzi, Elisa and Lauria, Francesco (2011) Molecular insight into the biology and clinical course of hairy cell leukemia utilizing immunoglobulin gene analysis. Leukemia and Lymphoma, 52, (1), 15-23. (doi:10.3109/10428194.2010.530362). (PMID:21133731).

Forconi, Francesco, Cencini, Emanuele, Sozzi, Elisa, Sicuranza, Anna, Raspadori, Donatella and Lauria, Francesco (2011) Insight into the behavior of hairy cell leukemia by immunogenetic analysis. Leukemia and Lymphoma, 52, supplement 2, 103-107. (doi:10.3109/10428194.2011.569620). (PMID:21504291).

Forconi, Francesco, Rinaldi, Andrea, Kwee, Ivo, Sozzi, Elisa, Raspadori, Donatella, Rancoita, Paola M V, Scandurra, Marta, Rossi, Davide, Deambrogi, Clara, Capello, Daniela, Zucca, Emanuele, Marconi, Daniela, Bomben, Riccardo, Gattei, Valter, Lauria, Francesco, Gaidano, Gianluca and Bertoni, Francesco (2008) Genome-wide DNA analysis identifies recurrent imbalances predicting outcome in chronic lymphocytic leukaemia with 17p deletion. British Journal of Haematology, 143, (4), 532-536. (doi:10.1111/j.1365-2141.2008.07373.x). (PMID:18752589).

Forconi, Francesco, Sahota, Surinder S., Raspadori, Donatella, Ippoliti, Micaela, Babbage, Gavin, Lauria, Francesco and Stevenson, Freda K. (2004) Hairy cell leukemia: at the crossroad of somatic mutation and isotype switch. Blood, 104, (10), 3312-3317. (doi:10.1182/blood-2004-03-0950).

Forconi, Francesco, Sahota, Surinder S., Raspadori, Donatella, Mockridge, Christopher I., Lauria, Francesco and Stevenson, Freda K. (2001) Tumor cells of hairy cell leukemia express multiple clonally related immunoglobulin isotypes via RNA splicing. Blood, 98, (4), 1174-1181.

Foroni, Letizia, Wilson, Gill, Gerrard, Gareth, Mason, Joanne, Grimwade, David, White, Helen E., de Castro, David Gonzalez, Austin, Stephen, Awan, Abida, Burt, Emma, Clench, Tim, Farruggia, Joanna, Hancock, Jeremy, Irvine, Alexandra E., Kizilors, Aytug, Langabeer, Stephen, Milner, Benedict J., Nickless, Guillermina, Schuh, Anna, Sproul, Anne, Wang, Lihui, Wickham, Caroline and Cross, Nicholas C.P. (2012) Guidelines for the measurement of BCR-ABL1 transcripts in chronic myeloid leukaemia. British Journal of Haematology, 153, (2), 179-190. (doi:10.1111/j.1365-2141.2011.08603.x). (PMID:21382019).

Forrest, Katharine M.L., Foulds, Nicola, Millar, John S., Sutherland, Paul D., Pappachan, V. John, Holden, Samantha, Mein, Rachael, Hopkins, Philip M. and Jungbluth, Heinz (2014) RYR1-related malignant hyperthermia with marked cerebellar involvement – a paradigm of heat-induced CNS injury? Neuromuscular Disorders, 1-3. (doi:10.1016/j.nmd.2014.10.008).

Forristal, Catherine E., Christensen , DavidR., Chinnery, Fay E., Petruzzelli, Raffaella, Parry, Kate L., Sanchez-Elsner, Tilman and Houghton, Franchesca D. (2013) Environmental oxygen tension regulates the energy metabolism and self-renewal of human embryonic stem cells. PLoS ONE, 8, (5), e62507. (doi:10.1371/journal.pone.0062507). (PMID:23671606).

Forristal, Catherine E., Wright, Kate L., Hanley, Neil A., Oreffo, Richard O.C. and Houghton, Franchesca D. (2010) Hypoxia inducible factors regulate pluripotency and proliferation in human proliferation in human embryonic stem cells cultured at reduced oxygen tensions. Reproduction, 139, (1), 85-97. (doi:10.1530/REP-09-0300). (PMID:19755485).

Forsberg, Lars A, Rasi, Chiara, Malmqvist, Niklas, Davies, Hanna, Pasupulati, Saichand, Pakalapati, Geeta, Sandgren, Johanna, de Ståhl, Teresita Diaz, Zaghlool, Ammar, Giedraitis, Vilmantas, Lannfelt, Lars, Score, Joannah, Cross, Nicholas C.P., Absher, Devin, Janson, Eva Tiensuu, Lindgren, Cecilia M., Morris, Andrew P., Ingelsson, Erik, Lind, Lars and Dumanski, Jan P. (2014) Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nature Genetics, 46, (6), 624-628. (doi:10.1038/ng.2966).

Forsti, Asta, Luo, Liping, Vorechovsky, Igor, Soderberg, Magnus, Lichtenstein, Paul and Hemminki, Kari (2001) Cancer Biology. Allelic imbalance on chromosomes 13 and 17 and mutation analysis of BRCA1 and BRCA2 genes in monozygotic twins concordant for breast cancer. Carcinogenesis, 22, (1), 27-33.

Foster, C., Evans, D. G., Eeles, R., Eccles, D., Ashley, S., Brooks, L., Cole, T., Cook, J., Davidson, R., Gregory, H., Mackay, J., Morrison, P. J. and Watson, M. (2004) Non-uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, cancer worry, and barriers to testing in a multicenter clinical cohort. Genetic Testing, 8, (1), 23-29. (doi:10.1089/109065704323016003).

Foster, C., Watson, M., Eeles, R., Eccles, D., Ashley, S., Davidson, R., Mackay, J., Morrison, P.J., Hopwood, P. and Evans, D.G.R. (2007) Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three year follow up. Psycho-Oncology, 16, (S2), S20-S20. (doi:10.1002/pon.1266).

Fotopoulos, V., Gilbert, M.J., Pittman, J.K., Marvier, A.C., Buchanan, A.J., Sauer, N., Hall, J.L. and Williams, L.E. (2003) The monosaccharide transporter gene, AtSTP4, and the cell-wall invertase, Atβfruct1, are induced in Arabidopsis during infection with the fungal biotroph Erysiphe cichoracearum. Plant Physiology, 132, (2), 821-829. (doi:10.1104/pp.103.021428).

Foulds, Nicola, Fairhurst, Jo, Temple, I. Karen, Cade, Steven, Groves, Charlotte and Lancaster, Tessa (2003) A female case of Sedaghatian type spondylometaphyseal dysplasia. American Journal of Medical Genetics Part A, 118A, (4), 377-381. (doi:10.1002/ajmg.a.10199).

Fox, C.S., Liu, Y., White, C.C., Feitosa, M., Smith, A.V., Heard-Costa, N., Lohman, K., Johnson, A.D., Foster, M.C., Greenawalt, D.M., Griffin, P., Ding, J., Newman, A.B., Tylavsky, F., Milijkovic, I., Kritchevsky, S.B., Launer, L., Garcia, M., Eriksdottir, G., Carr, J.J., Gudnason, V., Harris, T.B., Cupples, L.A., Borecki, I.B., Cooper, C., Aihie-Sayer, A. and Syddall, H.E. (2012) Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. PLoS Genetics, 8, e1002695. (doi:10.1371/journal.pgen.1002695). (PMID:22589738).

Fox, Keith R. and Waring, M.J. (2001) High-resolution footprinting studies of drug-DNA complexes using chemical and enzymatic probes. Methods in Enzymology, 340, 412-430. (doi:10.1016/S0076-6879(01)40434-4). (PMID:11529207).

Fredell, Louise, Iselius, Lennart, Collins, Andy, Hansson, Einar, Holmner, Staffan, Lundquist, Lars, Läckgren, Göran, Pedersen, Jörgen, Stenberg, Arne, Westbacke, Gunnar and Nordenskjöld, Agneta (2002) Complex segregation analysis of hypospadias. Human Genetics, 111, (3), 231-234. (doi:10.1007/s00439-002-0799-y).

Freimuth, Julia, Bangen, Jörg-Martin, Lambertz, Daniela, Hu, Wei, Nevzorova, Yulia Alexandrovna, Sonntag, Roland, Gassler, Nikolaus, Riethmacher, Dieter, Trautwein, Christian and Liedtke, Christian (2013) Loss of caspase-8 in hepatocytes accelerates the onset of liver regeneration in mice through premature NF-κB activation. Hepatology, 58, (5), 1779-1789. (doi:10.1002/hep.26538).

French, P.J., Bliss, T.V.P. and O'Connor, V. (2001) Ntab, a novel non-coding RNA abundantly expressed in rat brain. Neuroscience, 108, (2), 207-215. (doi:10.1016/S0306-4522(01)00408-0).

French, R.R., Chan, H.T.C., Tutt, A.L. and Glennie, M.J. (1999) CD40 antibody evokes a cytotoxic T-cell response that eradicates lymphoma and bypasses T-cell help. Nature Medicine, 5, (5), 549-553. (doi:10.1038/8426). (PMID:10229232).

Friedberg, Jonathan W., Ciminello, Lauren, Kelly, Jennifer, Clawson, Simon, Hoelzer, Dieter, Holte, Harald, LaCasce, Ann S., Mead, Graham, Thomas, Deborah, van Imhoff, Gustaaf W., Cheson, Bruce, Magrath, Ian T. and Fisher, Richard I. (2005) Outcome of patients > age 40 with Burkitt Lymphoma (BL) treated with aggressive chemotherapuetic regimens: results from the international Burkitt Lymphoma collaborative group. Blood, 106, (11), p.273A.

Friedmann, Peter S. (2002) The pathogenesis of atopic eczema. Hospital Medicine, 63, (11), 653-656.

Fritsche, Lars G., Chen, Wei, Schu, Matthew, Yaspan, Brian L., Yu, Yi, Thorleifsson, Gudmar, Zack, Donald J., Arakawa, Satoshi, Cipriani, Valentina, Ripke, Stephan, Igo, Robert P., Buitendijk, Gabriëlle H.S., Sim, Xueling, Weeks, Daniel E., Guymer, Robyn H., Merriam, Joanna E., Francis, Peter J., Hannum, Gregory, Agarwal, Anita, Armbrecht, Ana Maria, Audo, Isabelle, Aung, Tin, Barile, Gaetano R., Benchaboune, Mustapha, Bird, Alan C., Bishop, Paul N., Branham, Kari E., Brooks, Matthew, Brucker, Alexander J., Cade, William H., Cain, Melinda S., Campochiaro, Peter A., Chan, Chi-Chao, Cheng, Ching-Yu, Chew, Emily Y., Chin, Kimberly A., Chowers, Itay, Clayton, David G., Cojocaru, Radu, Conley, Yvette P., Cornes, Belinda K., Daly, Mark J., Dhillon, Baljean, Edwards, Albert O., Evangelou, Evangelos, Fagerness, Jesen, Ferreyra, Henry A., Friedman, James S., Geirsdottir, Asbjorg, George, Ronnie J., Gieger, Christian, Gupta, Neel, Hagstrom, Stephanie A., Harding, Simon P., Haritoglou, Christos, Heckenlively, John R., Holz, Frank G., Hughes, Guy, Ioannidis, John P.A., Ishibashi, Tatsuro, Joseph, Peronne, Jun, Gyungah, Kamatani, Yoichiro, Katsanis, Nicholas, Keilhauer, Claudia N., Khan, Jane C., Kim, Ivana K., Kiyohara, Yutaka, Klein, Barbara E.K., Klein, Ronald, Kovach, Jaclyn L., Kozak, Igor, Lee, Clara J., Lee, Kristine E., Lichtner, Peter, Lotery, Andrew J., Meitinger, Thomas, Mitchell, Paul, Mohand-Saïd, Saddek, Moore, Anthony T., Morgan, Denise J., Morrison, Margaux A., Myers, Chelsea E., Naj, Adam C., Nakamura, Yusuke, Okada, Yukinori, Orlin, Anton, Ortube, M. Carolina, Othman, Mohammad I., Pappas, Chris, Park, Kyu Hyung, Pauer, Gayle J.T., Peachey, Neal S., Poch, Olivier, Priya, Rinki Ratna, Reynolds, Robyn, Richardson, Andrea J., Ripp, Raymond, Rudolph, Guenther, Ryu, Euijung, Sahel, José-Alain, Schaumberg, Debra A., Scholl, Hendrik P.N., Schwartz, Stephen G., Scott, William K., Shahid, Humma, Sigurdsson, Haraldur, Silvestri, Giuliana, Sivakumaran, Theru A., Smith, R. Theodore, Sobrin, Lucia, Souied, Eric H., Stambolian, Dwight E., Stefansson, Hreinn, Sturgill-Short, Gwen M., Takahashi, Atsushi, Tosakulwong, Nirubol, Truitt, Barbara J., Tsironi, Evangelia E., Uitterlinden, André G., van Duijn, Cornelia M., Vijaya, Lingam, Vingerling, Johannes R., Vithana, Eranga N., Webster, Andrew R., Wichmann, H.-Erich, Winkler, Thomas W., Wong, Tien Y., Wright, Alan F., Zelenika, Diana, Zhang, Ming, Zhao, Ling, Zhang, Kang, Klein, Michael L., Hageman, Gregory S., Lathrop, G. Mark, Stefansson, Kari, Allikmets, Rando, Baird, Paul N., Gorin, Michael B., Wang, Jie Jin, Klaver, Caroline C.W., Seddon, Johanna M., Pericak-Vance, Margaret A., Iyengar, Sudha K., Yates, John R.W., Swaroop, Anand, Weber, Bernhard H.F., Kubo, Michiaki, DeAngelis, Margaret M., Léveillard, Thierry, Thorsteinsdottir, Unnur, Haines, Jonathan L., Farrer, Lindsay A., Heid, Iris M. and Abecasis, Gonçalo R. The AMD Gene Consortium (2013) Seven new loci associated with age-related macular degeneration. Nature Genetics, 45, (4), 433-439. (doi:10.1038/ng.2578). (PMID:23455636).

Fry, Fiona H., Holme, Andrea L., Giles, Niroshini M., Giles, Gregory I., Collins, Catriona, Holt, Kim, Pariagh, Sandra, Gelbrich, Thomas, Hursthouse, Michael B., Gutowski, Nick J. and Jacob, Claus (2005) Multifunctional redox catalysts as selective enhancers of oxidative stress. Organic and Biomolecular Chemistry, 3, (14), 2579-2587. (doi: 10.1039/b502197a).

Gadola, S.D. (2009) Interleukin-1 cytokines, inflammasomes, NOD-signalosomes and autoinflammation. Zeitschrift für Rheumatologie, 68, (9), 712-719. (doi:10.1007/s00393-009-0488-5).

Gadola, Stephan D., Koch, Michael, Marles-Wright, Jon, Lissin, Nikolai M., Shepherd, Dawn, Matulis, Gediminas, Harlos, Karl, Villiger, Peter M., Stuart, David I., Jakobsen, Bent K., Cerundolo, Vincenzo and Jones, E. Yvonne (2006) Structure and binding kinetics of three different human CD1d-α-galactosylceramide-specific T cell receptors. Journal of Experimental Medicine, 203, (3), 699-710. (doi:10.1084/jem.20052369).

Gadola, Stephan D., Zaccai, Nathan R., Harlos, Karl, Shepherd, Dawn, Castro-Palomino, Julio C., Ritter, Gerd, Schmidt, Richard R., Jones, E. Yvonne and Cerundolo, Vincenzo (2002) Structure of human CD1b with bound ligands at 2.3 A, a maze for alkyl chains. Nature Immunology, 3, 721-726. (doi:10.1038/ni821).

Gadola, Stephan D., Zaccai, Nathan R., Harlos, Karl, Shepherd, Dawn, Castro-Palomino, Julio C., Ritter, Gerd, Schmidt, Richard R., Jones, E. Yvonne and Cerundolo, Vincenzo (2002) Structure of human CD1b with bound ligands at 2.3 Å, a maze for alkyl chains. Nature Immunology, 3, (8), 721-726. (doi:10.1038/ni821).

Gaertner, Lowell, Sedikides, Constantine, Cai, Huajian and Brown, Jonathon D. (2010) It's not weird, it's wrong: When researchers overlook underlying genotypes, they will not detect universal processes. Behavioral and Brain Sciences, 33, (2-3), 93. (doi:10.1017/S0140525X10000105). (PMID:20546667).

Gaidano, Gianluca, Vivenza, Daniela, Forconi, Francesco, Capello, Daniela, Gloghini, Annunziata, Bhatia, Kishor, Gutierrez, Marina, Gallicchio, Margherita, Avanzi, Gian Carlo, Fassone, Lucia, Ariatti, Cristiano, Buonaiuto, Daniela, Cingolani, Antonella, Saglio, Giuseppe, Tirelli, Umberto, Larocca, Luigi M., Dalla-Favera, Riccardo and Carbone, Antonino (2000) Mutation of BAX occurs infrequently in acquired immunodeficiency syndrome-related non-Hodgkin's lymphomas. Genes, Chromosomes and Cancer, 27, (2), 177-182. (doi:10.1002/(SICI)1098-2264(200002)27:2<177::AID-GCC9>3.0.CO;2-O). (PMID:10612806).

Galanis, Evanthia, Bateman, Andrew, Johnson, Kimberly, Diaz, Rosa M., James, C. David, Vile, Richard and Russell, Stephen J. (2001) Use of viral fusogenic membrane glycoproteins as novel therapeutic transgenes in gliomas. Human Gene Therapy, 12, (7), 811-821. (doi:10.1089/104303401750148766).

Gamble, Clive, Davies, William, Pettitt, Paul, Hazelwood, Lee and Richards, Martin (2005) The archaeological and genetic foundations of the European population during the Late Glacial: implications for ‘agricultural thinking’. Cambridge Archaeological Journal, 15, (2), 193-223. (doi:10.1017/S0959774305000107).

Gancheva, Katya, Virchis, Andres, Howard-Reeves, Julie, Cross, Nick C.P., Brazma, Diana, Grace, Colin, Kotzampaltiris, Paul, Partheniou, Fedra and Nacheva, Elisabeth (2013) Myeloproliferative neoplasm with ETV6-ABL1: a case report and literature review. Molecular Cytogenetics, 6, (39) (doi:10.1186/1755-8166-6-39). (PMID:24053143).

Gao, B., Williams, A., Sewell, A. and Elliott, T. (2004) Generation of a functional, soluble tapasin protein from an alternatively spliced mRNA. Genes & Immunity, 5, (2), 101-108. (doi:10.1038/sj.gene.6364043).

Gao, Runping, McCormick, Christopher J., Arthur, Michael J., Ruddell, Richard, Oakley, Fiona, Smart, David E., Murphy, Frank R., Harris, Mark P. and Mann, Derek A. (2002) High efficiency gene transfer into cultured primary rat and human hepatic stellate cells using baculovirus vectors. Liver International, 22, (1), 15-22. (doi:10.1046/j.0106-9543.2001.01555.x).

Garand, R., Sahota, S.S., Avet-Loiseau, H., Talmant, P., Robillard, N., Moreau, A., Gaillard, F., Stevenson, F.K. and Bataille, R. (2000) IgG-secreting lymphoplasmacytoid leukaemia: a B-cell disorder with extensively mutated VH genes undergoing Ig isotype-switching frequently associated with trisomy 12. British Journal of Haematology, 109, (1), 71-80. (doi:10.1046/j.1365-2141.2000.01971.x).

Garcia-Closas, Montserrat, Couch, Fergus J., Lindstrom, Sara, Michailidou, Kyriaki, Schmidt, Marjanka K., Brook, Mark N., Orr, Nick, Rhie, Suhn Kyong, Riboli, Elio, Feigelson, Heather S., Le Marchand, Loic, Buring, Julie E., Eccles, Diana, Miron, Penelope, Fasching, Peter A., Brauch, Hiltrud, Chang-Claude, Jenny, Carpenter, Jane, Godwin, Andrew K., Nevanlinna, Heli, Giles, Graham G., Cox, Angela, Hopper, John L., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Dicks, Ed, Howat, Will J., Schoof, Nils, Bojesen, Stig E., Lambrechts, Diether, Broeks, Annegien, Andrulis, Irene L., Guénel, Pascal, Burwinkel, Barbara, Sawyer, Elinor J., Hollestelle, Antoinette, Fletcher, Olivia, Winqvist, Robert, Brenner, Hermann, Mannermaa, Arto, Hamann, Ute, Meindl, Alfons, Lindblom, Annika, Zheng, Wei, Devillee, Peter, Goldberg, Mark S., Lubinski, Jan, Kristensen, Vessela, Swerdlow, Anthony, Anton-Culver, Hoda, Dörk, Thilo, Muir, Kenneth, Matsuo, Keitaro, Wu, Anna H., Radice, Paolo, Teo, Soo Hwang, Shu, Xiao-Ou, Blot, William, Kang, Daehee, Hartman, Mikael, Sangrajrang, Suleeporn, Shen, Chen-Yang, Southey, Melissa C., Park, Daniel J., Hammet, Fleur, Stone, Jennifer, Veer, Laura J. Van't, Rutgers, Emiel J., Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Peto, Julian, Schrauder, Michael G., Ekici, Arif B., Beckmann, Matthias W., dos Santos Silva, Isabel, Johnson, Nichola, Warren, Helen, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Perez, Jose Ignacio Arias, Menéndez, Primitiva, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Lichtner, Peter, Lochmann, Magdalena, Justenhoven, Christina, Ko, Yon-Dschun, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Greco, Dario, Heikkinen, Tuomas, Ito, Hidemi, Iwata, Hiroji, Yatabe, Yasushi, Antonenkova, Natalia N., Margolin, Sara, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Balleine, Rosemary, Tseng, Chiu-Chen, Berg, David Van Den, Stram, Daniel O., Neven, Patrick, Dieudonné, Anne-Sophie, Leunen, Karin, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Peterlongo, Paolo, Peissel, Bernard, Bernard, Loris, Olson, Janet E., Wang, Xianshu, Stevens, Kristen, Severi, Gianluca, Baglietto, Laura, McLean, Catriona, Coetzee, Gerhard A., Feng, Ye, Henderson, Brian E., Schumacher, Fredrick, Bogdanova, Natalia V., Labrèche, France, Dumont, Martine, Yip, Cheng Har, Taib, Nur Aishah Mohd, Cheng, Ching-Yu, Shrubsole, Martha, Long, Jirong, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Tollenaar, Robertus A. E. M., Seynaeve, Caroline M., Kriege, Mieke, Hooning, Maartje J., van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Lu, Wei, Gao, Yu-Tang, Cai, Hui, Balasubramanian, Sabapathy P., Cross, Simon S., Reed, Malcolm W. R., Signorello, Lisa, Cai, Qiuyin, Shah, Mitul, Miao, Hui, Chan, Ching Wan, Chia, Kee Seng, Jakubowska, Anna, Jaworska, Katarzyna, Durda, Katarzyna, Hsiung, Chia-Ni, Wu, Pei-Ei, Yu, Jyh-Cherng, Ashworth, Alan, Jones, Michael, Tessier, Daniel C., González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Vincent, Daniel, Bacot, Francois, Ambrosone, Christine B., Bandera, Elisa V., John, Esther M., Chen, Gary K., Hu, Jennifer J., Rodriguez-Gil, Jorge L., Bernstein, Leslie, Press, Michael F., Ziegler, Regina G., Millikan, Robert M., Deming-Halverson, Sandra L., Nyante, Sarah, Ingles, Sue A., Waisfisz, Quinten, Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel, Bui, Minh, Gibson, Lorna, Müller-Myhsok, Bertram, Schmutzler, Rita K., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Turnbull, Clare, Rahman, Nazneen, Meijers-Heijboer, Hanne, Uitterlinden, Andre G., Rivadeneira, Fernando, Olswold, Curtis, Slager, Susan, Pilarski, Robert, Ademuyiwa, Foluso, Konstantopoulou, Irene, Martin, Nicholas G., Montgomery, Grant W., Slamon, Dennis J., Rauh, Claudia, Lux, Michael P., Jud, Sebastian M., Bruning, Thomas, Weaver, JoEllen, Sharma, Priyanka, Pathak, Harsh, Tapper, Will, Gerty, Sue, Durcan, Lorraine, Trichopoulos, Dimitrios, Tumino, Rosario, Peeters, Petra H., Kaaks, Rudolf, Campa, Daniele, Canzian, Federico, Weiderpass, Elisabete, Johansson, Mattias, Khaw, Kay-Tee, Travis, Ruth, Clavel-Chapelon, Françoise, Kolonel, Laurence N., Chen, Constance, Beck, Andy, Hankinson, Susan E., Berg, Christine D., Hoover, Robert N., Lissowska, Jolanta, Figueroa, Jonine D., Chasman, Daniel I., Gaudet, Mia M., Diver, W. Ryan, Willett, Walter C., Hunter, David J., Simard, Jacques, Benitez, Javier, Dunning, Alison M., Sherman, Mark E., Chenevix-Trench, Georgia, Chanock, Stephen J., Hall, Per, Pharoah, Paul D. P., Vachon, Celine, Easton, Douglas F., Haiman, Christopher A. and Kraft, Peter (2013) Genome-wide association studies identify four ER negative–specific breast cancer risk loci. Nature Genetics, 45, (4), 392-398. (doi:10.1038/ng.2561). (PMID:23535733).

Gardner, Michael, Bann, David, Wiley, Laura, Cooper, Rachel, Hardy, Rebecca, Nitsch, Dorothea, Martin-Ruiz, Carmen, Shiels, Paul, Sayer, Avan Aihie, Barbieri, Michelangela, Bekarert, Sofie, Bischoff, Claus, Brooks-Wilson, Angela, Chen, Wei, Cooper, Cyrus, Christiensen, Kaare, de Meyer, Tim, Deary, Ian, Der, Geoff, Roux, Ana Diez, Fitzpatrick, Annette, Hajat, Anjum, Halaschek-Wiener, Julius, Harris, Sarah, Hunt, Steven C., Jagger, Carol, Jeon, Hyo-Sung, Kaplan, Robert, Kimura, Masayuki, Lansdorp, Peter, Li, Changyong, Maeda, Toyoki, Mangino, Massimo, Nawrot, Tim S., Nilsson, Peter, Nordjfall, Katarina, Paolisso, Guiseppe, Ren, Fu, Riabowol, Karl, Robertson, Tony, Roos, Goran, Staessen, Jan A., Spector, Tim, Tang, Nelson, Unryn, Brad, van der Harst, Pim, Woo, Jean, Xing, Chao, Yadegarfar, Mohammed E., Park, Jae Yong, Young, Neal, Kuh, Diana, von Zglinicki, Thomas, Ben-Shlomo, Yoav and The Halcyon Study Team (2014) Gender and telomere length: systematic review and meta-analysis. Experimental Gerontology, 51, 15-27. (doi:10.1016/j.exger.2013.12.004). (PMID:24365661).

Gareth, D., Evans, R., Lalloo, F. and Eccles, D. (2006) Optimal selection of individuals for BRCA mutation testing. Journal of Clinical Oncology, 24, (20), 3311. (doi:10.1200/JCO.2006.06.6134).

Garne, Ester, Dolk, Helen, Loane, Maria, Wellesley, Diana, Barisic, Ingeborg, Calzolari, Elisa and Densem, James EUROCAT Working Group (2011) Paper 5: Surveillance of multiple congenital anomalies: Implementation of a computer algorithm in European registers for classification of cases. Birth Defects Research Part A: Clinical and Molecular Teratology, 91, (S1), S44-S50. (doi:10.1002/bdra.20777). (PMID:21384529).

Garner, Sarah A., Everson, J. Sylvia, Lambden, Paul R., Fane, Bentley A. and Clarke, Ian N. (2004) Isolation, molecular characterisation and genome sequence of a bacteriophage (Chp3) from Chlamydophila pecorum. Virus Genes, 28, (2), 207-214. (doi:10.1023/B:VIRU.0000016860.53035.f3).

Garratt, Emma (2010) Leptin and peroxisome proliferator activated receptor alpha: understanding their contribution towards normalising the programmed phenotype in the peripheral tissues of IUGR offspring. University of Southampton, School of Biological Sciences, Doctoral Thesis , 297pp.

Garratt, Emma, Vickers, Mark H., Gluckman, Peter D., Hanson, Mark A., Burdge, Graham C. and Lillycrop, Karen A. (2013) Tissue-specific 5' heterogeneity of PPARa transcripts and their differential regulation by leptin. PLoS ONE, 8, (6), part E67483 (doi:10.1371/journal.pone.0067483). (PMID:23825665).

Gaunt, Tom R, Rodriguez, Santiago, Zapata, Carloo and Day, Ian N.M. (2006) MIDAS: software for analysis and visualisation of interallelic disequilibrium between multiallelic markers. BMC Bioinformatics, 7, 227. (doi:10.1186/1471-2105-7-227).

Gaunt, Tom R., Chen, Xiao-he, King, Tabitha H.T., Voropanov, Anca, Shu, Ye, Rodriguez, Santiago, Syddall, Holly E., Sayer, Avan Aihie, Dennison, Elaine M., Tabassum, Faiza, Barker, David J.P., Cooper, Cyrus, Phillips, David I.W. and Day, Ian N.M. (2003) Common polymorphism in the growth hormone gene cluster and its relationship with cardiovascular disease and metabolic syndrome. Atherosclerosis, 170, (1), S8-S9. (doi:10.1016/j.atherosclerosis.2003.08.001).

Gaunt, Tom R., Cooper, Jacqueline A., Miller, George J., Day, Ian N.M. and O'Dell, Sandra (2001) Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males. Human Molecular Genetics, 10, (14), 1491-1501. (doi:10.1093/hmg/10.14.1491).

Gaunt, Tom R., Hinks, Lesley J., Christensen, Mikkel B., Kiessling, Matthew and Day, Ian N.M. (2004) Experience applying Light TyperTM methodology to human SNPs relevant to growth and cardiovascular risk. In, Hecker, Karl H. (ed.) Genetic Variance Detection: Technologies for Pharmacogenomics. USA, DNA Press, 131-144.

Gaunt, Tom R., Hinks, Lesley J., Christensen, Mikkel B., Kiessling, Matthew and Day, Ian N.M. (2006) Experience applying light typerTM methodology to human SNPs relevant to growth and cardiovascular risk. In, Hecker, Karl H. (ed.) Genetic Variance Detection: Technologies for Pharmacogenomics. , DNA Press, 131-144. (Nuts & Bolts).

Gaunt, Tom R., Hinks, Lesley J., Rassoulian, Hamid and Day, Ian N.M. (2003) Manual 768 or 384 well microplate gel 'dry' electrophoresis for PCR checking and SNP genotyping. Nucleic Acids Research, 31, (9) (doi:10.1093/nar/gng048).

Gelsi-Boyer, Veronique, Cervera, Nathalie, Bertucci, Francois, Brecqueville, Mandy, Finetti, Pascal, Murati, Anne, Arnoulet, Christine, Mozziconacci, Marie-Joelle, Mills, Ken, Cross, Nicholas C P, Vey, Norbert and Birnbaum, Daniel (2013) Molecular similarity between myelodysplastic form of chronic myelomonocytic leukemia and refractory anemia with ring sideroblasts. Haematologica, 98, (4), 576-583. (doi:10.3324/haematol.2012.071506 ). (PMID:23065512).

Gemenetzi, M. and Lotery, A.J. (2013) Phenotype/genotype correlation in a case series of Stargardt’s patients identifies novel mutations in the ABCA4 gene. Eye (doi:10.1038/eye.2013.176). (PMID:23949494). (In Press).

Gemenetzi, M., Yang, Y and Lotery, A.J. (2012) Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment. Eye, 26, (3), 355-369. (doi:10.1038/eye.2011.309). (PMID:22173078).

Georgitsi, Marianthi, Raitila, Anniina, Karhu, Auli, van der Luijt, Rob B., Aalfs, Cora M., Sane, Timo, Vierimaa, Outi, Makinen, Markus J., Tuppurainen, Karoliina, Paschke, Ralph, Gimm, Oliver, Koch, Christian A., Gundogdu, Sadi, Lucassen, Anneke, Tischkowitz, Marc, Izatt, Louise, Aylwin, Simon, Bano, Gul, Hodgson, Shirley, De Menis, Ernesto, Launonen, Virpi, Vahteristo, Pia and Aaltonen, Lauri A. (2007) Germline CDKN1B/p27(Kip1) mutation in multiple endocrine neoplasia. Journal of Clinical Endocrinology and Metabolism, 92, (8), 3321-3325. (doi:10.1210/jc.2006-2843).

Gerrard, Gareth, Mudge, Katherine, Foskett, Pierre, Stevens, David, Alikian, Mary, White, Helen E., Cross, Nicholas N.C.P., Apperley, Jane and Foroni, Letizia (2012) Fast-mode duplex qPCR for BCR-ABL1 molecular monitoring: Innovation, automation, and harmonization. American Journal of Hematology, 87, (7), 717-720. (doi:10.1002/ajh.23212).

Gerrard, Simon R., Natarajan, Srinivasan, Fox, Keith R. and Brown, Tom (2007) CG base pair recognition within DNA triple helices using N-methyl-3H-pyrrolo[2,3-d]pyrimidin-2(7H)-one nucleoside analogues. Nucleosides, Nucleotides and Nucleic Acids, 26, (10-12), 1363-1367. (doi:10.1080/15257770701533958).

Gestri, Gaia, Osborne, Robert J., Wyatt, Alexander W., Gerrelli, Dianne, Gribble, Susan, Stewart, Helen, Fryer, Alan, Bunyan, David J., Prescott, Katrina, Collin, J. Richard O., Fitzgerald, Tomas, Robinson, David, Carter, Nigel P., Wilson, Stephen W. and Ragge, Nicola K. (2009) Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Human Genetics, 126, (6), 791-803. (doi:10.1007/s00439-009-0730-x).

Ghassemifar, M. Reza, Eckert, Judith J., Houghton, Franchesca D., Picton, Helen M., Leese, Henry J. and Fleming, Tom P. (2003) Gene expression regulating epithelial intercellular junction biogenesis during human blastocyst development in vitro. Molecular Human Reproduction, 9, (5), 245-252. (doi:10.1093/molehr/gag033).

Ghoussaini, Maya, Fletcher, Olivia, Michailidou, Kyriaki, Turnbull, Clare, Schmidt, Marjanka K., Dicks, Ed, Dennis, Joe, Wang, Qin, Humphreys, Manjeet K., Luccarini, Craig, Baynes, Caroline, Conroy, Don, Maranian, Melanie, Ahmed, Shahana, Driver, Kristy, Johnson, Nichola, Orr, Nicholas, dos Santos Silva, Isabel, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Uitterlinden, Andre G., Rivadeneira, Fernando, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Chang-Claude, Jenny, Hein, Rebecca, Nickels, Stefan, Flesch-Janys, Dieter, Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel, Bui, Minh, Hopper, John L., Apicella, Carmel, Park, Daniel J., Southey, Melissa, Hunter, David J., Chanock, Stephen J., Broeks, Annegien, Verhoef, Senno, Hogervorst, Frans B.L., Fasching, Peter A., Lux, Michael P., Beckmann, Matthias W., Ekici, Arif B., Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Menegaux, Florence, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Alonso, M. Rosario, González-Neira, Anna, Benítez, Javier, Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Dur, Christina Clarke, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Justenhoven, Christina, Brauch, Hiltrud, Brüning, Thomas, Wang-Gohrke, Shan, Eilber, Ursula, Dörk, Thilo, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Bogdanova, Natalia V., Antonenkova, Natalia N., Rogov, Yuri I., Karstens, Johann H., Bermisheva, Marina, Prokofieva, Darya, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Lambrechts, Diether, Yesilyurt, Betul T., Floris, Giuseppe, Leunen, Karin, Manoukian, Siranoush, Bonanni, Bernardo, Fortuzzi, Stefano, Peterlongo, Paolo, Couch, Fergus J., Wang, Xianshu, Stevens, Kristen, Lee, Adam, Giles, Graham G., Baglietto, Laura, Severi, Gianluca, McLean, Catriona, Alnæs, Grethe Grenaker, Kristensen, Vessela, Børrensen-Dale, Anne-Lise, John, Esther M., Miron, Alexander, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Glendon, Gord, Mulligan, Anna Marie, Devilee, Peter, van Asperen, Christie J., Tollenaar, Rob A.E.M., Seynaeve, Caroline, Figueroa, Jonine D., Garcia-Closas, Montserrat, Brinton, Louise, Lissowska, Jolanta, Hooning, Maartje J., Hollestelle, Antoinette, Oldenburg, Rogier A., van den Ouweland, Ans M.W., Cox, Angela, Reed, Malcolm W.R., Shah, Mitul, Jakubowska, Ania, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Jones, Michael, Schoemaker, Minouk, Ashworth, Alan, Swerdlow, Anthony, Beesley, Jonathan, Chen, Xiaoqing, Muir, Kenneth R., Lophatananon, Artitaya, Rattanamongkongul, Suthee, Chaiwerawattana, Arkom, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Shen, Chen-Yang, Yu, Jyh-Cherng, Wu, Pei-Ei, Hsiung, Chia-Ni, Perkins, Annie, Swann, Ruth, Velentzis, Louiza, Eccles, Diana M., Tapper, Will J., Gerty, Susan M., Graham, Nikki J., Ponder, Bruce A.J., Chenevix-Trench, Georgia, Pharoah, Paul D.P., Lathrop, Mark, Dunning, Alison M., Rahman, Nazneen, Peto, Julian and Easton, Douglas F. (2012) Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nature Genetics, 44, (3), 312-318. (doi:10.1038/ng.1049). (PMID:22267197).

Gibson, J., Hakobyan, S., Cree, A.J., Collins, A., Harris, C.L., Ennis, S., Morgan, B.P. and Lotery, A.J. (2012) Variation in complement component C1 inhibitor in age-related macular degeneration. Immunobiology, 217, (2), 251-255. (doi:10.1016/j.imbio.2011.07.015). (PMID:21852020).

Gibson, Jane, Collins, Andrew and Morton, Newton (2008) Individual disease risk and multimetric analysis of Crohn disease. Proceedings of the National Academy of Sciences of the United States of America, 105, (41), 15843-15847. (doi:10.1073/pnas.0808009105).

Gibson, Jane, Cree, Angela, Collins, Andrew, Lotery, Andrew and Ennis, Sarah (2010) Determination of a gene and environment risk model for age-related macular degeneration. British Journal of Ophthalmology, 94, (10), 1382-1387. (doi:10.1136/bjo.2010.182568). (PMID:20576771).

Gibson, Jane, Griffiths, Helen, Collins, Andrew, Yates, John R.W., Folk, James C., East, Jade S., Lotery, Andrew J. and Ennis, Sarah (2011) Letter to the editor: Genetic variants within chromosome 4q28.3 are not reproducibly associated with age-related macular degeneration (AMD). Acta Ophthalmologica, 89, (7), e603-e604. (doi:10.1111/j.1755-3768.2010.01986.x). (PMID:20738259).

Gibson, Jane, Griffiths, Helen, De Salvo, Gabriella, Cole, Mick, Jacob, Aby, Macleod, Alex, Yang, Yit, Menon, Geeta, Cree, Angela, Ennis, Sarah and Lotery, Andrew (2012) Genome-wide association study of primary open angle glaucoma risk and quantitative traits. Molecular Vision, 18, 1083-1092. (PMID:22605921).

Gibson, Jane, Morton, Newton E. and Collins, Andrew (2006) Extended tracts of homozygosity in outbred human populations. Human Molecular Genetics, 15, (5), 789-795. (doi:10.1093/hmg/ddi493).

Gibson, Jane, Tapper, William, Ennis, Sarah and Collins, Andrew (2013) Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease. Human Genetics, 132, (2), 233-243. (doi:10.1007/s00439-012-1243-6).

Gibson, Jane, Tapper, William, Zhang, Weihua, Morton, Newton and Collins, Andrew (2005) Cosmopolitan linkage disequilibrium maps. Human Genomics, 2, (1), 20-27.

Gibson , Jane, Gilbert, Rodney D., Bunyan, Dadiv J., Angus, Elizabeth M., Fowler, Darren J. and Ennis, Sarah (2013) Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant. Genetics Research, 95, (6), 165-173. (doi:10.1017/S0016672313000220).

Giglio, S., Calvari, V., Gregato, G., Gimelli, G., Camanini, S., Giorda, R., Ragusa, A., Guerneri, S., Selicorni, A., Stumm, M., Tonnies, H., Ventura, M., Zollino, M., Neri, G., Barber, J., Wieczorek, D., Rocchi, M. and Zuffardi, O. (2002) Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. American Journal of Human Genetics, 71, (2), 276-285. (doi:10.1086/341610).

Gilbert, Harry J., Clarke, Ian N., Gibson, Raymond K., Stephenson, John R. and Tully, Michael (1985) Molecular cloning of the phenylalanine ammonia lyase gene from Rhodosporidium toruloides in Escherichia coli K-12. Journal of Bacteriology, 161, (1), 314-320. (2981805). (PMID:7041889).

Gilbert, Rodney D., Sukhtankar, Priya, Lachlan, Katherine and Fowler, Darren J. (2013) Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. Pediatric Nephrology, 28, (11), 2217-2220. (doi:10.1007/s00467-013-2484-x). (PMID:23624871).

Gilbert, Rodney D., Sukhtankar, Priya, Lachlan, Katherine and Fowler, Darren J. (2013) Erratum to: Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. Pediatric Nephrology, 28, (11), 2233-2233. (doi:10.1007/s00467-013-2508-6).

Gilbert, Rodney D., Turner, Claire L.S., Gibson, Jane, Bass, Paul S., Haq, Mushfequr R., Cross, Esta, Bunyan, David J., Collins, Andrew R., Tapper, William J., Needell, Juliet C., Dell, Beverley, Morton, Newton E., Temple, I. Karen and Robinson, David O. (2009) Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. Kidney International, 75, (4), 415-419. (doi:10.1038/ki.2008.573).

Gilbertson, R., Wickramasinghe, C., Hernan, R., Balaji, V., Hunt, D., Jones-Wallace, D., Crolla, J., Perry, R., Lunec, J., Pearson, A. and Ellison, D. (2001) Clinical and molecular stratification of disease risk in medulloblastoma. British Journal of Cancer, 85, (5), 705-712. (doi:10.1054/bjoc.2001.1987).

Giles, Gregory I. and Sharma, Ram P. (2005) Topoisomerase enzymes as therapeutic targets for cancer chemotherapy. Medicinal Chemistry, 1, (4), 383-394. (doi:10.2174/1573406054368738).

Gill, Harinder K., Parsons, Sian R., Spalluto, Cosma, Davies, AngelaF., Knorz, Victoria J., Burlinson, Clare E.G., Ng, Bee Ling, Carter, Nigel P., Ogilvie, Caroline Makie, Wilson, David I. and Roberts, Roland G. (2009) Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart. European Journal of Human Genetics, 17, (11), 1423-1431. (doi:10.1038/ejhg.2009.91).

Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, Brondum-Nielsen, Karen, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M. and Thomas, N. Simon (2006) Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. American Journal of Human Genetics, 78, (5), 878-883. (doi:10.1086/503632).

Gitendra Wickremasinghe, R., Prentice, Archibald G. and Steele, Andrew J. (2011) Aberrantly activated anti-apoptotic signalling mechanisms in chronic lymphocytic leukaemia cells: clues to the identification of novel therapeutic targets. British Journal of Haematology (doi:10.1111/j.1365-2141.2011.08676.x). (PMID:21501136).

Glancy, M.T., Barnicoat, A., Vijeratnam, R., De Souza, S., Gilmore, J., Huang, S., Maloney, V.K., Thomas, N.S., Bunyan, D.J., Jackson, A. and Barber, J.C.K. (2007) Transmitted duplications of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Journal of Medical Genetics, 44, pp.S59.

Glancy, Mary, Barnicoat, Angela, Vijeratnam, Rajan, de Souza, Sharon, Gilmore, Joanne, Huang, Shuwen, Maloney, Viv K., Thomas, N. Simon, Bunyan, David J., Jackson, A. and Barber, John C.K. (2009) Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. European Journal of Human Genetics, 17, (1), 37-43. (doi:10.1038/ejhg.2008.133).

Glatt, Stephen G., Tylee, Daniel S., Chandler, Sharon D., Pazol, Joel, Nievergelt, Caroline M., Woelk, Christopher H., Baker, Dewleen G., Lohr, James B., Kremen, William S., Litz, Brett T., Ming, T. Tsuang and Marine Resiliency Study Investigators (2013) Blood-based gene-expression predictors of PTSD risk and resilience among deployed marines. A pilot study. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics (doi:10.1002/ajmg.b.32167). (PMID:23650250).

Gloyn, A.L., Ellard, S., Shield, J.P.H., Temple, I.K., Mackay, D.J.G., Barrett, T. and Hattersley, A.T. (2001) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes in European cases of neonatal diabetes. American Journal of Human Genetics, 69, (4), p.607.

Gloyn, A.L., Mackay, D.J.G., Weedon, M.N., McCarthy, M.I., Walker, M., Hitman, G., Sampson, M., Knight, B.A., Hattersley, A.T. and Frayling, T.M. (2005) Assessment of the role of genetic variation in the transient neonatal diabetes (TNDM) region on chromosome 6q24 in type 2 diabetes: a comparative genomic and haplotype approach. Diabetologia, 48, (Supplement 1), p.A119.

Gloyn, Anna L., Cummings, Elizabeth A., Edghill, Emma L., Harries, Lorna W., Scott, Rachel, Costa, Teresa, Temple, I. Karen, Hattersley, Andrew T. and Ellard, Sian (2004) Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. Journal of Clinical Endocrinology and Metabolism, 89, (8), 3932-3935. (doi: 10.1210/jc.2004-0568).

Gloyn, Anna L., Cummings, Elizabeth A., Edghill, Emma L., Harries, Lorna W., Scott, Rachel, Costa, Teresa, Temple, Karen, Hattersley, Andrew T. and Ellard, Sian (2004) Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. Journal of Clinical Endocrinology & Metabolism, 89, (8), 3932-3935.

Gloyn, Anna L., Mackay, Deborah J.G., Weedon, Michael N., McCarthy, Mark I., Walker, Mark, Hitman, Graham, Knight, Bridget A., Owen, Katharine R., Hattersley, Andrew T. and Frayling, Timothy M. (2006) Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach. Diabetes, 55, (8), 2272-2276. (doi:10.2337/db06-0216).

Gloyn, Anna L., Pearson, Ewan R., Antcliff, Jennifer F., Proks, Peter, Bruining, Jan, Slingerland, Annabelle S., Howard, Neville, Srinivasan, Shubha, Silva, José M.C.L., Molnes, Janne, Edghill, Emma L., Frayling, Timothy M., Temple, I. Karen, Mackay, Deborah, Shield, Julain P.H., Sumnik, Zdenek, Van Rhijn, Adrian, Wales, J.erry K.H., Clark, Penelope, Gorman, Shaun, Aisenberg, Javier, Ellard, Sian, Njolstad, Pal R., Ashcroft, Frances M. and Hattersley, Andrew T. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. New England Journal of Medicine, 350, (18), 1838-1849. (doi:10.1056/NEJMoa032922).

Gloyn, Anna L., Reimann, Frank, Girard, Christophe, Edghill, Emma L., Proks, Peter, Pearson, Ewan R., Temple, I. Karen, Mackay, Deborah J.G., Shield, Julian P.H., Freedenberg, Debra, Noyes, Kathryn, Ellard, Sian, Ashcroft, Frances M., Gribble, Fiona M. and Hattersley, Andrew T. (2005) Relapsing diabetes can result from moderately activating mutations in KCNJ11. Human Molecular Genetics, 14, (7), 925-934. (doi:10.1093/hmg/ddi086).

Gluckman, P.D., Low, F.M. and Hanson, M.A. (2013) Developmental epigenomics and metabolic disease. In, Jirtle, Randy L. (ed.) Environmental Epigenomics in Health and Disease. New York, US, Springer, 31-50.

Gluckman, Peter, Beedle, Alan and Hanson, Mark (2009) Principles of evolutionary medicine, Oxford, GB, Oxford University Press, 312pp.

Gluckman, Peter D., Hanson, Mark A., Beedle, A.S., Buklijas, T. and Low, F.M. (2011) Epigenetics of human disease. In, Hallgrímsson, Benedikt and Hall, Brian K. (eds.) Epigenetics: Linking Genotype and Phenotype in Development and Evolution. Berkeley, US, University of California Press.

Gluckman, Peter D., Hanson, Mark A. and Buklijas, T. (2011) Maternal and transgenerational influences on human health. In, Gissis, Snait B. and Jablonka, Eva (eds.) Transformations of Lamarckism: From Subtle Fluids to Molecular Biology. Cambridge, US, MIT Press, 237-249.

Gluckman, Peter D., Hanson, Mark A. and Low, Felicia M. (2011) The role of developmental plasticity and epigenetics in human health. Birth Defects Research Part C: Embryo Today: Reviews, 93, (1), 12-18. (doi:10.1002/bdrc.20198). (PMID:21425438).

Gluckman, Peter D., Hanson, Mark A. and Spencer, Hamish G. (2005) Predictive adaptive responses and human evolution. Trends in Ecology & Evolution, 20, (10), 527-533. (doi:10.1016/j.tree.2005.08.001).

Gluckman, Peter D., Lillycrop, Karen A., Vickers, Mark H., Pleasants, Anthony B., Phillips, Emma S., Beedle, Alan S., Burdge, Graham C. and Hanson, Mark A. (2007) Metabolic plasticity during mammalian development is directionally dependent on early nutritional status. Proceedings of the National Academy of Sciences of the United States of America, 104, (31), 12796-12800. (doi:10.1073/pnas.0705667104).

Godfrey, K.M., Strachan, E., Dansie, E., Crofford, L.J., Buchwald, D., Goldberg, J., Poeschia, B., Succop, A., Noonan, C. and Afari, N. (2014) Salivary cortisol and cold pain sensitivity in female twins. Annals of Behavioral Medicine, 47, (2), 180-188. (doi:10.1007/s12160-013-9532-4). (PMID:23955075).

Godfrey, Keith M., Gluckman, Peter D., Lillycrop, Karen A., Burdge, Graham C., Rodford, J.L., Slater-Jefferies, J.L., McLean, C, Sheppard, A, Crozier, S.R., Emerald, B.S., Gale, Catharine R., Cooper, C. and Hanson, Mark A. (2009) Abstract. Epigenetic marks at birth predict childhood body composition at age 9 years. Journal of Developmental Origins of Health and Disease, 1, supplement Programme and Abstracts of the 6th World Congress on Developmental Origins of Heath and Disease, 19-22 November 2009, Santiago, Chile, S44-S44. (doi:10.1017/S2040174409990018 ).

Godfrey, Keith M., Inskip, Hazel M. and Hanson, Mark A. (2011) The long-term effects of prenatal development on growth and metabolism. Seminars in Reproductive Medicine, 29, (3), 257-265. (doi:10.1055/s-0031-1275518). (PMID:21769765).

Godfrey, Keith M., Inskip, Hazel M. and Hanson, Mark A. (2011) The long-term effects of prenatal development on growth and metabolism. Seminars in Reproductive Medicine, 29, (3), 257-265. (doi:10.1055/s-0031-1275518). (PMID:21769765).

Godfrey, Keith M., Lillycrop, Karen A., Burdge, Graham C., Gluckman, Peter D. and Hanson, Mark A. (2011) Developmental plasticity and developmental origins of non-communicable disease: theoretical considerations and epigenetic mechanisms. Progress in Biophysics and Molecular Biology, 106, (1), 272-280. (doi:10.1016/j.pbiomolbio.2010.12.008).

Godfrey, Keith M., Sheppard, Alan, Gluckman, Peter D., Lillycrop, Karen A., Burdge, Graham C., McClean, Cameron, Rodford, Joanne, Slater-Jefferies, Joanne L., Garratt, Emma, Crozier, Sarah R., Emerald, B. Starling, Gale, Catharine R., Inskip, Hazel M., Cooper, Cyrus and Hanson, Mark A. (2011) Epigenetic gene promoter methylation at birth is associated with childrens later adiposity. Diabetes, 60, (5), 1528-1534. (doi:10.2337/db10-0979). (PMID:21471513).

Gole, Leena, Crolla, John A., Thomas, Simon N., Jacobs, Patricia A. and Dennis, Nicholas R. (2004) Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12). American Journal of Medical Genetics, 125, (2), 177-180. (doi:10.1002/ajmg.a.20482).

Good, Catriona D., Lawrence, Kate, Thomas, N. Simon, Price, Cathy J., Ashburner, John, Friston, Karl J., Frackowiak, Richard S.J., Oreland, Lars and Skuse, David H. (2003) Dosage-sensitive X-linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans. Brain, 126, (11), 2431-2446. (doi:10.1093/brain/awg242).

Gordon, Christopher T., Attanasio, Catia, Bhatia, Shipra, Benko, Sabina, Ansari, Morad, Tan, Tiong Y., Munnich, Arnold, Pennacchio, Len A., Abadie, Véronique, Temple, I. Karen, Goldenberg, Alice, van Heyningen, Veronica, Amiel, Jeanne, FitzPatrick, David, Kleinjan, Dirk A., Visel, Axel and Lyonnet, Stanislas (2014) Identification of novel craniofacial regulatory domains located far upstream ofSOX9and disrupted in Pierre Robin sequence. Human Mutation, 35, (8), 1011-1020. (doi:10.1002/humu.22606).

Gosenca, Darko, Kellert, Beate, Metzgeroth, Georgia, Haferlach, Claudia, Fabarius, Alice, Schwaab, Juliana, Kneba, Michael, Scheid, Christof, Töpelt, Karin, Erben, Philipp, Haferlach, Torsten, Cross, Nicholas C. P., Hofmann, Wolf-Karsten, Seifarth, Wolfgang and Reiter, Andreas (2014) Identification and functional characterization of imatinib-sensitiveDTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms. Genes, Chromosomes & Cancer , 53, (5), 411-421. (doi:10.1002/gcc.22153).

Gosgnach, S., Lanuza, G.M., Butt, S.J.B., Saueressig, H., Zhang, Y., Velasquez, T., Riethmacher, D., Callaway, E.M., Kiehn, O. and Goulding, M. (2006) V1 spinal neurons regulate the speed of vertebrate locomotor outputs. Nature, 440, (7081), 215-219. (doi:10.1038/nature04545).

Goto, M., Brickwood, S., Wilson, D.I., Wood, P.J., Mason, J.I. and Hanley, N.A. (2002) Steroidogenic enzyme expression within the adrenal cortex during early human gestation. Endocrine Research, 28, (4), 641-645.

Goverdhan, S., Howell, W.M., Bacon, H., Chisholm, I.H., Avery, K. and Lotery, A.J. (2004) Association of HLA polymorphisms in age-related macular degeneration. Investigative Ophthalmology & Visual Science, 45, p.U725.

Goverdhan, S.V., Lotery, A.J. and Howell, W.M. (2005) HLA and eye disease: a synopsis. International Journal of Immunogenetics, 32, (6), 333-342. (doi:10.1111/j.1744-313X.2005.00548.x).

Goverdhan, Srinivas (2008) Immunogentetic pathways in age related macular degeneration. University of Southampton, Human Genetics, Doctoral Thesis , 190pp.

Goverdhan, Srinivas V., Khakoo, Salim I., Gaston, Hannah, Chen, Xiaoli and Lotery, Andrew J. (2008) Age related macular degeneration is associated with the HLA Cw*0701 genotype and the Natural Killer cell receptor AA haplotype. Investigative Ophthalmology & Visual Science, 49, (11), 5077-5082. (doi:10.1167/iovs.08-1837). (PMID:18515573).

Gowers, Isobel R., Walters, Kevin, Kiss-Toth, Endre, Read, Robert C., Duff, Gordon W. and Wilson, Anthony G. (2011) Age-related loss of CpG methylation in the tumour necrosis factor promoter. Cytokine, 56, (3), 792-797. (doi:10.1016/j.cyto.2011.09.009). (PMID:22004920).

Grace, Colin, Brazma, Diana, Chanalaris, Anastasios, Howard, Julie, Virgili, Anna, Valgañon, Mikel, Cross, Nick, Apperley, Jane F. and Nacheva, Elisabeth (2007) Array CGH analysis at 60kb resolution of CML samples at advanced stage of disease. Blood, 110, (11), p.860A.

Grand, F.H., Curtis, C., Score, J., Chase, A. and Cross, N.C.P. (2007) The platelet-derived growth factor receptor beta fuses to two distinct loci at 3p21 in imatinib responsive chronic eosinophilic leukaemia. British Journal of Haematology, 137, (s1), p.25. (doi:10.1111/j.1365-2141.2007.06557.x).

Grand, Francis H., Burgstaller, Sonja, Kuhr, Thomas, Baxter, E. Joanna, Webersinke, Gerald, Thaler, Josef, Chase, Andrew J. and Cross, Nicholas C.P. (2004) p53-binding protein 1 is fused to the platelet-derived growth factor receptor β in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder. Cancer Research, 64, (20), 7216-7219. (doi:10.1158/0008-5472.CAN-04-2005).

Grand, Francis H., Hidalgo-Curtis, Claire E., Ernst, Thomas, Zoi, Katerina, Zoi, Chistine, McGuire, Carolann, Kreil, Sebastian, Jones, Amy, Score, Joannah, Metzgeroth, Georgia, Oscier, David, Hall, Andrew, Brandts, Christian, Serve, Hubert, Reiter, Andrew, Chase, Andrew J. and Cross, Nicholas C.P. (2009) Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood, 113, (24), 6182-6192. (doi:10.1182/blood-2008-12-194548).

Grand, Francis H., Iqbal, Sameena, Zhang, Lingyan, Russell, Nigel H., Chase, Andrew and Cross, Nicholas C.P. (2005) SPTBNI-FLT3 in atypical chronic myeloid leukemia transforms Ba/F3 cells to IL-3 independence and is sensitive to both tyrosine kinase inhibitors and immunotherapy. Blood, 106, (11), p.568A.

Grand, Francis H., Koduru, Prasad, Cross, Nicholas C.P. and Allen, Steven L. (2005) NUP98-LEDGF fusion and t(9;11) in transformed chronic myeloid leukemia. Leukemia Research, 29, (12), 1469-1472. (doi:10.1016/j.leukres.2005.05.002).

Grant, A., Farris, M., Alefounder, P., Williams, P.H., Woodward, M.J. and O'Connor, D. (2003) Co-ordination of pathogenicity island expression by the BipA GTPase in enteropathogenic Escherichia coli (EPEC). Molecular Microbiology, 48, (2), 507-521. (doi:10.1046/j.1365-2958.2003.t01-1-03447.x).

Grant, A., Haigh, R., Williams, P. and O'Connor, D. (2001) An in vitro transposon system for highly regulated gene expression: construction of Escherichia coli strains with arabinose-dependent growth at low temperatures. Gene, 208, (1-2), 145-151. (doi:10.1016/S0378-1119(01)00769-7).

Gray, W. (2007) Neuropeptides and seizure-induced neurogenesis. [in special issue: 27th International Epilepsy Congress Proceedings] Epilepsia, 48 Issue s7, 36. (doi:10.1111/j.1528-1167.2006.01370_5.x).

Greally, Marie T., Robinson, Eve, Allen, Nicholas M., O'Donovan, Donough and Crolla, John A. (2014) De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype? American Journal of Medical Genetics: Part A, 164, (12), 4194-3202. (doi:10.1002/ajmg.a.36786). (PMID:25263257).

Green, David W., Mann, Stephen and Oreffo, Richard O.C. (2006) Mineralized polysaccharide capsules as biomimetic microenvironments for cell, gene and growth factor delivery in tissue engineering. Soft Matter, 2, (9), 732-737. (doi:10.1039/b604786f).

Greenlees, Ruth, Neville, Amanda, Addor, Marie-Claude, Amar, Emmanuelle, Arriola, Larraitz, Bakker, Marian, Barisic, Ingeborg, Boyd, Patricia A., Calzolari, Elisa, Doray, Berenice, Draper, Elizabeth, Emil Vollset, Stein, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Kallen, Karin, Khoshnood, Babak, Latos-Bielenska, Anna, Martinez-Frias, Maria-Luisa, Materna-Kiryluk, Anna, Matias Dias, Carlos, McDonnell, Bob, Mullaney, Carmel, Nelen, Vera, O'Mahony, Mary, Pierini, Anna, Queisser-Luft, Annette, Randrianaivo-Ranjatoélina, Hanitra, Rankin, Judith, Rissmann, Anke, Ritvanen, Annukka, Salvador, Joaquin, Sipek, Antonin, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana and Wertelecki, Wladimir (2011) Paper 6: EUROCAT member registries: Organization and activities. [in special issue: EUROCRAT Supplement Issue] Birth Defects Research Part A: Clinical and Molecular Teratology, 91, supplement S1, S51-S100. (doi:10.1002/bdra.20775). (PMID:21381185).

Gribble, S.M., Prigmore, E., Burford, D.C., Porter, K.M., Ng, Bee Ling, Douglas, E.J., Fiegler, H., Carr, P., Kalaitzopoulos, D., Clegg, S., Sandstrom, R., Temple, I.K., Youings, S.A., Thomas, N.S., Dennis, N.R., Jacobs, P.A., Crolla, J.A. and Carter, N.P. (2005) The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. Journal of Medical Genetics, 42, (1), 8-16. (doi:10.1136/jmg.2004.024141).

Gribouval, Olivier, Morinière, Vincent, Pawtowski, Audrey, Arrondel, Christelle, Sallinen, Satu-Leena, Saloranta, Carola, Clericuzio, Carol, Viot, Géraldine, Tantau, Julia, Blesson, Sophie, Cloarec, Sylvie, Machet, Marie Christine, Chitayat, David, Thauvin, Christelle, Laurent, Nicole, Sampson, Julian R., Bernstein, Jonathan A, Clemenson, Alix, Prieur, Fabienne, Daniel, Laurent, Levy-Mozziconacci, Annie, Lachlan, Katherine, Alessandri, Jean Luc, Cartault, François, Rivière, Jean Pierre, Picard, Nicole, Baumann, Clarisse, Delezoide, Anne Lise, Ortega, Maria Belar, Chassaing, Nicolas, Labrune, Philippe, Yu, Sui, Firth, Helen, Wellesley, Diana, Bitzan, Martin, Alfares, Ahmed, Braverman, Nancy, Krogh, Lotte, Tolmie, John, Gaspar, Harald, Doray, Bérénice, Majore, Silvia, Bonneau, Dominique, Triau, Stéphane, Loirat, Chantal, David, Albert, Bartholdi, Deborah, Peleg, Amir, Brackman, Damien, Stone, Rosario, DeBerardinis, Ralph, Corvol, Pierre, Michaud, Annie, Antignac, Corinne and Gubler, Marie Claire (2012) Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation, 33, (2), 316-326. (doi:10.1002/humu.21661). (PMID:22095942).

Grimble, R.F. (2002) Nutrient gene interactions and the inflammatory response. Aktuelle Ernährungsmedizin, 26, (1), 272-276. (doi:10.1055/s-2002-34027).

Grimble, Robert F., Howell, W. Martin, O’Reilly, Gillian, Turner, Stephen J., Markovic, Olivera, Hirrell, Sharon, East, J. Malcolm and Calder, Philip C. (2002) The ability of fish oil to suppress tumor necrosis factor alpha production by peripheral blood mononuclear cells in healthy men is associated with polymorphisms in genes that influence tumor necrosis factor α production. American Journal of Clinical Nutrition, 76, (2), 454-459.

Grimble, Robert Francis (2002) Genotypic influences on metabolic alterations during inflammation and the nutritional outcome. Clinical Nutrition: Early Intervention. Nestlé Nutrition Workshop Series Clinical and Performance Programme, 7, 1-18. (doi:10.1159/000067508).

Grindedal, Eli M., Renkonen-Sinisalo, Laura, Vasen, Hans, Evans, Gareth, Sala, Paola, Blanco, Ignacio, Gronwald, Jacek, Apold, Jaran, Eccles, Diana, Sanchez, Ángel Alonso, Sampson, Julian, Jarvinen, Heikki J., Bertario, Lucio, Crawford, Gillan C., Stormorken, Astrid T., Maehle, Lovise and Moller, Pal (2010) Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. Journal of Medical Genetics, 47, (2), 99-102. (doi:10.1136/jmg.2009.068130). (PMID:19635727).

Groenewoud, Eva R., Macklon, Nick S., Cohlen, Ben J. and ANTARCTICA trial study group (2012) Cryo-thawed embryo transfer: natural versus artificial cycle. A non-inferiority trial.(ANTARCTICA trial). BMC Womens Health, 12, (1), 27. (doi:10.1186/1472-6874-12-27). (PMID:22950651).

Gronskov, Karen, Poole, Rebecca L., Hahnemann, Johanne M.D., Thomson, Jennifer, Tumer, Zeynup, Brondum-Nielsen, Karen, Murphy, Rinki, Ravn, Kirstine, Melchior, Linea, Dedic, Alma, Dolmer, Birgitte, Temple, I. Karen, Boonen, Susanne E. and Mackay, Deborah J.G. (2011) Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. Journal of Medical Genetics, 48, (5), 308-311. (doi:10.1136/jmg.2010.086504). (PMID:21278389).

Grossmann, V., Kohlmann, A., Eder, C., Haferlach, C., Kern, W., Cross, N.C.P., Haferlach, T. and Schnittger, S. (2011) Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance. Leukemia, 25, (5), 877-879. (doi:10.1038/leu.2011.10). (PMID:21339759 ).

Gruszka-Westwood, Alicja M., Horsley, Sharon W., Martinez-Ramirez, Angel, Harrison, Christine J., Kempski, Helena, Moorman, Anthony V., Ross, Fiona M., Griffiths, Michael, Greaves, Mel F. and Kearney, Lyndal (2004) Comparative expressed sequence hybridization studies of high-hyperdiploid childhood acute lymphoblastic leukemia. Genes, Chromosomes and Cancer, 41, (3), 191-202. (doi:10.1002/gcc.20085).

Gu, Dongfeng, O'Dell, Sandra D., Chen, Xiao-he, Miller, George J. and Day, Ian N. (2002) Evidence of multiple causal sites affecting weight in the IGF2-INS-TH region of human chromosome 11. Human Genetics, 110, (2), 173-181. (doi:10.1007/s00439-001-0663-5).

Guglielmelli, P., Biamonte, F., Score, J., Hidalgo-Curtis, C., Cervantes, F., Maffioli, M., Fanelli, T., Ernst, T., Winkelman, N., Jones, A. V., Zoi, K., Reiter, A., Duncombe, A., Villani, L., Bosi, A., Barosi, G., Cross, N. C. P. and Vannucchi, A. M. (2011) EZH2 mutational status predicts poor survival in myelofibrosis. Blood, 118, (19), 5227-5234. (doi:10.1182/blood-2011-06-363424).

Guglielmelli, Paola, Lasho, Terra L., Rotunno, Giada, Score, Joannah, Mannarelli, Carmela, Pancrazzi, Alessandro, Biamonte, Flavia, Pardanani, Animesh, Zoi, Katerina, Reiter, Andreas, Duncombe, Andrew, Fanelli, Tiziana, Pietra, Daniela, Rumi, Elisa, Finke, Christy, Gangat, Naseema, Ketterling, Rhett P., Knudson, Ryan A., Hanson, Curt A., Bosi, Alberto, Pereira, Arturo, Manfredini, Rossella, Cervantes, Francisco, Barosi, Giovanni, Cazzola, Marie, Cross, Nicholas C. P., Vannucchi, Alessandro M. and Tefferi, Ayalew (2013) The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients. Leukemia, 28, (9), 1804-1810. (doi:10.1038/leu.2014.76). (PMID:24549259).

Gunther, Ute, Holloway, Judith A., Gordon, John G., Knight, Andrea, Chance, Victoria, Hanley, Neil A., Wilson, David I., French, Ruth, Spencer, Jo, Steer, Howard, Anderson, Graham and MacDonald, Thomas T. (2005) Phenotypic characterization of CD3-7+ cells in developing human intestine and an analysis of their ability to differentiate into T cells. Journal of Immunology, 174, (9), 5414-5422.

Guthikonda, Kranthi, Zhang, Hongmei, Nolan, Vikki G., Soto-Ramírez, Nelís, Ziyab, Ali H., Ewart, Susan, Arshad, Hasan S., Patil, Veeresh, Holloway, John W., Lockett, Gabrielle A. and Karmaus, Wilfried (2014) Oral contraceptives modify the effect of GATA3 polymorphisms on the risk of asthma at the age of 18 years via DNA methylation. Clinical Epigenetics, 6, (1), 17. (doi:10.1186/1868-7083-6-17). (PMID:25250096).

Guthrie, Philip A.I., Gaunt, Tom R., Abdollahi, Mohammed R., Rodriguez, Santiago, Lawlor, Debbie A., Smith, George Davey and Day, Ian N.M. (2011) Amplification ratio control system for copy number variation genotyping. Nucleic Acids Research, 39, (8), e54. (doi:10.1093/nar/gkr046). (PMID:21300641).

Gutierrez, Rodrigo A., Ewing, Rob M., Cherry, J. Michael and Green, Pamela J. (2002) Identification of unstable transcripts in Arabidopsis by cDNA microarray analysis: rapid decay is associated with a group of touch- and specific clock-controlled genes. Proceedings of the National Academy of Sciences, 99, (17), 11513-11518. (doi:10.1073/pnas.152204099). (PMID:12167669).

Guy, Andrew T., Piggot, Thomas J. and Khalid, Syma (2012) Single-stranded DNA within nanopores: conformational dynamics and implications for sequencing; a molecular dynamics simulation study. Biophysical Journal, 103, (5), 1028-1036. (doi:10.1016/j.bpj.2012.08.012). (PMID:23009852).

Guy, Jane, Hearn, Tom, Crosier, Moira, Mudge, Jonathan, Viggiano, Luigi, Koczan, Dirk, Thiesen, Hans-Jurgen, Bailey, Jeffrey A., Horvath, Julie E., Eichler, Evan E., Earthrowl, Mark E., Deloukas, Panos, French, Lisa, Rogers, Jane, Bentley, David and Jackson, Michael S. (2003) Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p. Genome Research, 13, (2), 159-172. (doi:10.1101/gr.644503). (PMID:12566394).

Guymer, Robyn H., Héon, Elise, Lotery, Andrew J., Munier, Francis L., Schorderet, Daniel F., Baird, Paul N., McNeil, Robyn J., Haines, Heidi, Sheffield, Val C. and Stone, Edwin M. (2001) Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Archives of Ophthalmology, 119, (5), 745-751.

Génin, A., French, P., Doyère, V., Davis, S., Errington, M.L., Maroun, M., Stean, T., Truchet, B., Webber, M., Wills, T., Richter-Levin, G., Sanger, G., Hunt, S.P., Mallet, J., Laroche, S., Bliss, T.V.P. and O'Connor, V. (2003) LTP but not seizure is associated with up-regulation of AKAP-150. European Journal of Neuroscience, 17, (2), 331-334. (doi:10.1046/j.1460-9568.2003.02462.x).

Haadsma, Maaike L., Groen, Henk, Mooji, Thea M., Burger, Curt W., Broekmans, Frank J.M., Lambalk, Cornelis B., van Leeuwen, Flora E. and Hoek, Annemiek (2010) Miscarriage risk for IVF pregnancies in poor responders to ovarian hyperstimulation. Reproductive BioMedicine Online, 20, (2), 191-200. (doi:10.1016/j.rbmo.2009.11.005 ). (PMID:20113957).

Haak, W., Brandt, G., de Jong, H., Meyer, C., Ganslmeier, R., Heyd, V., Hawkesworth, C., Pike, A.W.G., Meller, H. and Alt, K. (2008) Ancient DNA, strontium isotopes and osteological analyses shed light on social and kinship organization of the later stone age. Proceedings of the National Academy of Sciences of the United States of America, 105, (47), 18226-18231. (doi:10.1073/pnas.0807592105).

Haiman, Christopher A., Chen, Gary K. and Vachon, Celine M. et al. (2011) A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer. Nature Genetics, 43, (12), 1210-1214. (doi:10.1038/ng.985).

Haitchi, H.M., Bucchieri, F., Powell, R.M., Hanley, N.A., Wilson, D.I., Holgate, S.T. and Davies, D.E. (2005) ADAM33 in embryonic lungs. Thorax, 60, (Supplement 2), p.ii22.

Haitchi, H.M., Yoshisue, H., Ribbene, A., Wilson, S.J., Holloway, J.W., Bucchieri, F., Hanley, N.A., Wilson, D.I., Zummo, G., Holgate, S.T. and Davies, D.E. (2009) Chronological expression of ciliated bronchial epithelium 1 during pulmonary development. European Respiratory Journal, 33, (5), 1095-1104. (doi:10.1183/09031936.00157108).

Haitchi, Hans Michael, Bassett, David J.P., Bucchieri, Fabio, Gao, Xiufeng, Powell, Robert M., Hanley, Neil A., Wilson, David I., Holgate, Stephen T. and Davies, Donna E. (2009) Induction of a disintegrin and metalloprotease 33 during embryonic lung development and the influence of IL-13 or maternal allergy. Journal of Allergy and Clinical Immunology, 124, (3), 590-597.e11. (doi:10.1016/j.jaci.2009.06.026).

Haitchi, Hans Michael, Powell, Robert M., Shaw, Timothy J., Howarth, Peter H., Wilson, Susan J., Wilson, David I., Holgate, Stephen T. and Davies, Donna E. (2005) ADAM33 expression in asthmatic airways and human embryonic lungs. American Journal of Respiratory and Critical Care Medicine, 171, (9), 958-965. (doi:10.1164/rccm.200409-1251OC).

Hales, C. Nicholas and Barker, David J.P. (2001) The thrifty phenotype hypothesis. British Medical Bulletin, 60, (1), 5-20.

Hall, Heather E., Chan, E. Ricky, Collins, Andrew, Judis, LuAnn, Shirley, Sofia, Surti, Urvashi, Hoffner, Lori, Cockwell, Annette E., Jacobs, Patricia A. and Hassold, Terry J. (2007) The origin of trisomy 13. American Journal of Medical Genetics Part A, 143A, (19), 2242-2248. (doi:10.1002/ajmg.a.31913).

Hall, Nigel F., Gale, Catharine R., Syddall, Holly, Martyn, Christopher N. and Phillips, David I.W. (2002) Relation between size at birth and risk of age-related macular degeneration. Investigative Ophthalmology and Visual Science, 43, (12), 3641-3645.

Hall, Nigel F., Gale, Catharine R., Syddall, Holly E., Martyn, Christpher N. and Phillips, David I.W. (2001) Relation between size at birth and age-related cataract. Investigative Ophthalmology and Visual Science, 42, (3), 614-619.

Hall, Nigel F., Gale, Catharine R., Ye, Shu and Martyn, Christopher N. (2009) Myopia and polmorphisms in genes for matrix metalloproteinases. Investigative Ophthalmology and Visual Science, 50, (6), 2632-2636. (doi:10.1167/iovs.08-2427).

Hall, V., Maloney, V.K., White, H., Liehr, T., Volleth, M. and Barber, J.C.K. (2006) The use of pyrosequencing to identify copy number variation of 16p11.2 in euchromatic variant carriers and the normal population. Journal of Medical Genetics, 43, pp.S98.

Hallowell, N., Ardern-Jones, A., Eeles, R., Foster, C.L., Lucassen, A., Moynihan, C. and Watson, M. (2005) Communication about genetic testing in families of male BRCA1/2 carriers and non-carriers: patterns, priorities and problems. Clinical Genetics, 67, (6), 492-502. (doi:10.1111/j.1399-0004.2005.00443.x).

Hallowell, N., Cooke, S., Crawford, G., Lucassen, A., Parker, M. and Snowdon, C. (2010) An investigation of patients' motivations for their participation in genetics-related research. Journal of Medical Ethics, 36, (1), 37-45. (doi:10.1136/jme.2009.029264).

Hallowell, N., Foster, C., Eeles, R., Arden-Jones, A. and Watson, M. (2004) Accommodating risk: responses to BRCA1/2 genetic testing of women who have had cancer. Social Science & Medicine, 59, (3), 553-565. (doi:10.1016/j.socscimed.2003.11.025).

Hallowell, Nina, Ardern-Jones, Audrey, Eeles, Ros, Foster, Claire L., Lucassen, Anneke, Moynihan, Clare and Watson, Maggie (2006) Guilt, blame and responsibility: men's understanding of their role in the transmission of BRCA1/2 mutations within their family. Sociology of Health and Illness, 28, (7), 969-988. (doi:10.1111/j.1467-9566.2006.00515.x). (PMID:17163862).

Hallowell, Nina, Cooke, Sarah, Crawford, Gill, Lucassen, Anneke and Parker, Michael (2009) Distinguishing research from clinical care in cancer genetics: theoretical justifications and practical strategies. Social Science & Medicine, 68, (11), 2010-2017. (doi:10.1016/j.socscimed.2009.03.010 ). (PMID:19346047).

Hamblin, T. (2002) Chronic lymphocytic leukaemia: one disease or two? Annals of Hematology, 81, (6), 299-303. (doi:10.1007/s00277-002-0476-1).

Hamblin, T.J., Orchard, J.A., Gardiner, A., Oscier, D.G., Davis, Z. and Stevenson, F. K. (2000) Immunoglobulin V genes and CD38 expression in CLL. Blood, 95, (7), 2455-2457.

Hamblin, Terry J., Orchard, Jenny A., Ibbotson, Rachel E., Davis, Zadie, Thomas, Peter W., Stevenson, Freda K. and Oscier, David G. (2002) CD38 expression and immunoglobulin variable region mutations are independent prognostic variables in chronic lymphocytic leukemia, but CD38 expression may vary during the course of the disease. Blood, 99, (3), 1023-1029. (doi:10.1182/blood.V99.3.1023).

Hamersley, M. Robert, Lavik, Gaute, Woebken, Dagmar, Rattray, Jayne E., Lam, Phyllis, Hopmans, Ellen C., Damsté, Jaap S. Sinninghe, Krüger, Siegfried, Graco, Michelle, Gutiérrez, Dimtri and Kuypers, Marcel M.M. (2007) Anaerobic ammonium oxidation in the Peruvian oxygen minimum zone. Limnology and Oceanography, 52, (3), 923-933. (doi:10.4319/lo.2007.52.3.0923).

Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Buxton, Bernard, Campbell, Linda E., Clayton-Smith, Jill, Donnai, Dian, Karmiloff-Smith, Annette, Metcalfe, Kay, Murphy, Kieran C., Patton, Michael, Pober, Barbara, Prescott, Katrina, Scambler, Pete, Shaw, Adam, Smith, Anne C.M., Stevens, Angela F., Temple, I. Karen, Hennekam, Raoul and Tassabehji, May (2005) Discriminating power of localized three-dimensional facial morphology. American Journal of Human Genetics, 77, (6), 999-1010. (doi:10.1086/498396).

Hammond, V.N., Gerty, S.M., Sillibourne, J., Ward, D., Mattocks, C., Simmonds, P., Graham, N., Armstrong, M. and Eccles, D.M. (2007) Inherited mutations in BRCA1 are much more frequent than in BRCA2 amongst young breast cancer cases. Journal of Medical Genetics, 44, pp.S132.

Hammond, Victoria Naomi (2010) The role of genetic factors in breast cancer aetiology. University of Southampton, School of Medicine, Doctoral Thesis , 196pp.

Hanks, Sandra, Coleman, Kim, Summersgill, Brenda, Messahel, Boo, Williamson, Dan, Pritchard-Jones, Kathryn, Strefford, Jon, Swansbury, John, Plaja, Alberto, Shipley, Janet and Rahman, Nazneen (2006) Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome. Cancer Letters, 239, (2), 234-238. (doi:10.1016/j.canlet.2005.08.006).

Hanley, K.P., Gray, S., Dijkstra, I.M.E., Hearn, T., Williams, L., Wilson, D.I. and Hanley, N.A. (2006) The long acting GLP-1 analogue, liraglutide, induces beta cell differentiation during normal human pancreas development. Diabetologia, 49, (Supplement 1), 288-289. (doi:10.1007/s00125-006-0358-5).

Hanley, Neil A., Rainey, William E., Wilson, David I., Ball, Stephen G. and Parker, Keith L. (2001) Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation. Molecular Endocrinology, 15, (1), 57-68. (doi:10.1210/me.15.1.57).

Hanson, Clare (2012) Eugenics, literature and culture in post-war Britain, Abingdon, GB, Routledge, 190pp. (Routledge Interdisciplinary Perspectives on Literature).

Hanson, Mark, Godfrey, Keith M., Lillycrop, Karen A., Burdge, Graham C. and Gluckman, Peter D. (2011) Deveopmental plasticity and development origns of non-communicable disease: Theorectical considerations and epigenetic mechanisms. Progress in Biophysics and Molecular Biology, 106, (1), 272-280. (doi:10.1016/j.pbiomolbio.2010.12.008 ). (PMID:21219925 ).

Hanson, Mark A., Low, Felicia M. and Gluckman, Peter D. (2011) Epigenetic epidemiology: the rebirth of soft inheritance. Annals of Nutrition and Metabolism, 58, supplement 2, 8-15. (doi:10.1159/000328033).

Harding, Rosalind M., Healy, Eugene, Ray, Amanda J., Ellis, Nichola S., Flanagan, Niamh, Todd, Carol, Dixon, Craig, Sajantila, Antti, Jackson, Ian J., Birch-Machin, Mark A. and Rees, Jonathan L. (2000) Evidence for variable selective pressures at MC1R. The American Journal of Human Genetics, 66, (4), 1351-1361.

Hardwick, Nicola, Buchan, Sarah L., Ingram, Wendy, Khan, Ghazala, Vittes, Gisella E., Rice, Jason, Pulford, Karen, Mufti, Ghulam, Stevenson, Freda and Guinn, Barbara-ann (2013) An analogue peptide from the Cancer/Testis antigen PASD1 induces CD8+ T cell responses against naturally processed peptide. Cancer Immunity, 13, (16) (PMID:23882161).

Harlalka, Gaurav V., Baple, Emma L., Cross, Harold, Kuhnle, Simone, Cubillos-Rojas, Monica, Matentzoglu, Konstantin, Patton, Michael A., Wagner, Karin, Coblentz, Roselyn, Ford, Debra L., Mackay, Deborah J.G., Chioza, Barry A., Scheffner, Martin, Rosa, Jose Luis and Crosby, Andrew H. (2013) Mutation of HERC2 causes developmental delay with Angelman-like features. Journal of Medical Genetics, 50, (2), 65-73. (doi:10.1136/jmedgenet-2012-101367). (PMID:23243086).

Harrington, Kevin J., Bateman, Andrew R., Melcher, Alan A., Ahmed, Atique and Vile, Richard G. (2002) Cancer gene therapy: part 1. Vector development and regulation of gene expression. Clinical Oncology, 14, (1), 3-16. (doi:10.1053/clon.2001.0002).

Harrington, Kevin J., Melcher, Alan A., Bateman, Andrew R., Ahmed, Atique and Vile, Richard G. (2002) Cancer gene therapy: part 2. Candidate transgenes and their clinical development. Clinical Oncology, 14, (2), 148-169. (doi:10.1053/clon.2001.0004).

Harris, Nicole (2008) Using microarrays to elucidate the genetic basis of wood density in sitka spruce and poplar. University of Southampton, School of Biological Sciences, Doctoral Thesis , 204pp.

Harris, Robert G., White, Edward, Phillips, Emma S. and Lillycrop, Karen A. (2002) The expression of the developmentally regulated proto-oncogene Pax-3 is modulated by N-Myc. Journal of Biological Chemistry, 277, (38), 34815-34825. (doi:10.1074/jbc.M109609200).

Harris, Simon R., Clarke, I., Seth-Smith, Helena M.B., Solomon, Anthony W., Cutcliffe, Lesley T., Marsh, Peter, Skilton, Rachel J., Holland, Martin J., Mabey, David., Peeling, Rosanna W., Lewis, David A., Spratt, Brian G., Unemo, Magnus, Persson, Kenneth, Bjartling, Carina, Brunham, Robert, de Vries, Henry J.C., Morré, Servaas A., Speksnijder, Arjen, Bébéar, Cécile M., Clerc, Maïté, de Barbeyrac, Bertille, Parkhill, Julian and Thomson, Nicholas R. (2012) Whole-genome analysis of diverse Chlamydia trachomatis strains identifies phylogenetic relationships masked by current clinical typing. Nature Genetics, 44, (4), 413-419. (doi:10.1038/ng.2214). (PMID:22406642).

Harrison, C.J. (2005) Detection of genomic aberrations in older patients with acute myeloid leukemia. Haematologica, 90, (2), 147.

Harrison, Christine J. and Foroni, Letizia (2002) Cytogenetics and molecular genetics of acute lymphoblastic leukemia. Reviews in Clinical and Experimental Hematology, 6, (2), 91-113. (doi:10.1046/j.1468-0734.2002.00069.x).

Harrison, Christine J., Kempski, Helena, Hammond, David W. and Kearney, Lyndal (2004) Molecular cytogenetics in childhood leukemia. Methods in Molecular Medicine, 91, 123-137.

Harrison, Christine J., Mazzullo, Helen, Cheung, Kan L., Gerrard, Gareth, Jalali, G. Reza, Mehta, Atul, Osier, David G. and Orchard, Kim H. (2003) Cytogenetics of multiple myeloma: interpretation of fluorescence in situ hybridization results. British Journal of Haematology, 120, (6), 944-952. (doi:10.1046/j.1365-2141.2003.04172.x).

Harrison, Christine J., Moorman, Anthony V., Barber, Kerry E., Broadfield, Zoë J., Cheung, Kan L., Harris, Rachel, Jalali, G. Reza, Robinson, Hazel M., Strefford, Jonathan C., Stewart, Adam, Wright, Sarah, Griffiths, Mike, Ross, Fiona M., Harewood, Louise and Martineau, Mary (2005) Interphase molecular cytogenetic screening for chromosomal abnormalities of prognostic significance in childhood acute lymphoblastic leukaemia: a UK Cancer Cytogenetics Group Study. British Journal of Haematology, 129, (4), 520-530. (doi:10.1111/j.1365-2141.2005.05497.x).

Harrison, Claire N., Butt, Nauman, Campbell, Peter, Conneally, Eibhlin, Drummond, Mark, Green, Anthony R., Murrin, Richard, Radia, Deepti H., Mead, Adam, Reilly, John T., Cross, Nicholas C. P. and McMullin, Mary F. (2014) Modification of British Committee for standards in haematology diagnostic criteria for essential thrombocythaemia. British Journal of Haematology, 167, (3), 421-423. (doi:10.1111/bjh.12986).

Harrowven, David C. and Kostiuk, Sarah L. (2012) Macrocylic bisbibenzyl natural products and their chemical synthesis. Natural Product Reports, 29, (2), 223-242. (doi:10.1039/c1np00080b). (PMID:22089169).

Harvey, N.C., Moon, R.J., Sayer, A.A., Ntani, G., Davies, J.H., Javaid, M.K., Robinson, S.M., Godfrey, K.M., Inskip, H.M. and Cooper, C. (2014) Maternal antenatal vitamin D status and offspring muscle development: findings from the Southampton Women's Survey. Journal of Clinical Endocrinology & Metabolism, 99, (1), 330-337. (doi:10.1210/jc.2013-3241).

Harvey, Nicholas and Cooper, Cyrus (2003) Determinants of fracture risk in osteoporosis. Current Rheumatology Reports, 5, (1), 75-81.

Hashimoto, Ko, Kokubun, Shoichi, Itoi, Eiji and Roach, Helmtrud I. (2007) Improved quantification of DNA methylation using methylation-sensitive restriction enzymes and real-time PCR. Epigenetics, 2, (2), 86-91.

Hashimoto, Ko, Otero, Miguel, Imagawa, Kei, de Andres , Maria C., Coico, Jonathan M., Roach, Helmtrud I., Oreffo, Richard O.C., Marcu, Kenneth B. and Goldring, Mary B. (2013) Regulated transcription of human matrix metalloproteinase 13 (MMP13) and interleukin -1B (IL 1B) genes in chondrocytes depends on methylation of specific proximal promoter CpG sites. Journal of Biological Chemistry, 288, (14), 10061-10072. (doi:10.1074/jbc.M112.421156 ). (PMID:23417678).

Hasserjian, Robert P., Boecklin, Federica, Parker, Sally, Chase, Andy, Dhar, Sunanda, Zaiac, M., Olavarria, Eduardo, Lampert, Irvin, Henry, Kristin, Apperley, Jane F. and Goldman, J. M. (2002) ST1571 (Imatinib Mesylate) reduces bone marrow cellularity and normalizes morphologic features irrespective of cytogenetic response. American Journal of Clinical Pathology, 117, (3), 360-367.

Hassold, Terry J., Burrage, Lindsay C., Chan, Ernest R., Judis, LuAnn M., Schwartz, Stuart, James, S. Jill, Jacobs, Patricia A. and Thomas, N. Simon (2001) Maternal folate polymorphisms and the etiology of human nondisjunction. American Journal of Human Genetics, 69, (2), 434-439. (doi:10.1086/321971).

Hatt, Christopher, Ward, Michael E. and Clarke, Ian N. (1988) Analysis of the entire nucleotide sequence of the cryptic plasmid of Chlamydia trachomatis serovar L1. Evidence for involvement in DNA replication. Nucleic Acids Research, 16, (9), 4053-4067. (doi:10.1093/nar/16.9.4053). (PMID:6307876).

Hawi, Z., Dring, M., Kirley, A., Foley, D., Kent, L., Craddock, N., Asherson, P., Curran, S., Gould, A., Richards, S., Lawson, D., Pay, H., Turic, D., Langley, K., Owens, M., O’Donovan, M., Thapar, A., Fitzgerald, M. and Gill, M. (2002) Serotonergic system and attention deficit hyperactivity disorder (ADHD): a potential susceptibility locus at the 5-HT(1B) receptor gene in 273 nuclear families from a multi-centre sample. Molecular Psychiatry, 7, (7), 718-725. (doi:10.1038/sj.mp.4001048).

Hawken, M.P., Meme, H.K., Elliott, L.C., Chakaya, J.M., Morris, J.S., Githui, W.A., Juma, E.S., Odhiambo, J.A., Thiong'o, L.N., Kimari, J.N., Ngugi, E.N., Bwayo, J.J., Gilks, C.F., Plummer, F.A., Porter, J.D.H., Nunn, P.P. and McAdam, K.P.W.J. (1997) Isoniazid preventive therapy for tuberculosis in HIV-1 infected adults: results of a randomised controlled trial. AIDS, 11, (7), 875-882. (PMID:9189212).

Hayes, Lyn J., Bailey, Robin L., Mabey, David C.W., Clarke, Ian N., Pickett, Mark A., Watt, Peter J. and Ward, Michael E. (1992) Genotyping of Chlamydia trachomatis from a trachoma-endemic village in the Gambia by a nested polymerase chain reaction: identification of strain variants. The Journal of Infectious Diseases, 166, (5), 1173-1177. (doi:10.1093/infdis/166.5.1173). (PMID:1402030).

Hayes, M.C., Birch, B.R., Cooper, A.J. and Primrose, J.N. (2001) Cellular resistance to mitomycin C is associated with overexpression of MDR-1 in a urothelial cancer cell line (MGH-U1). BJU International, 87, (3), 245-250. (doi:10.1046/j.1464-410x.2001.02027.x).

Hayward, Bruce E., De Vos, Michel, Talati, Nargese, Abdollahi, M Reza, Taylor, Graham R., Meyer, Esther, Williams, Denise, Maher, Eamonn R., Setna, Faridon, Nazir, Kausar, Hussaini, Shahnaz, Jafri, Hussain, Rashid, Yasmin, Sheridan, Eamonn and Bonthron, David T. (2009) Genetic and epigenetic analysis of recurrent hydatidiform mole. Human Mutation, 30, (5), E629-E639. (doi:10.1002/humu.20993). (PMID:19309689).

Hayward, Rachel M., Nicolin, Gary, Kennedy, Charles, Joy, Harriet and Davies, Justin H. (2011) From idiopathic diabetes insipidus to neurodegenerative Langerhans cell histiocytosis--an unusual presentation and progression of disease. Journal of Pediatric Endocrinology and Metabolism, 24, (9-10), 811-814. (doi:10.1515/JPEM.2011.298). (PMID:22145482).

Healy, E. (2004) Melanocortin 1 receptor variants, pigmentation, and skin cancer susceptibility. Photodermatology, Photoimmunology & Photomedicine, 20, (6), 283-288. (doi:10.1111/j.1600-0781.2004.00132.x).

Healy, E., Angus, B., Lawrence, C.M. and Rees, J.L. (1995) Prognostic value of Ki67 antigen expression in basal cell carcinomas. British Journal of Dermatology, 133, (5), 737-741. (doi:10.1111/j.1365-2133.1995.tb02748.x). (PMID:8555026).

Healy, Eugene, Belgaid, Christine E., Takata, Minoru, Vahlquist, Anders, Rehman, Ishtiaq, Rigby, Howard and Rees, Jonathan L. (1996) Allelotypes of primary cutaneous melanoma and benign melanocytic nevi. Cancer Research, 56, (3), 589-593. (PMID:8564976).

Healy, Eugene, Irvine, Alan D., Lear , John T. and Munro, Colin S. (2008) Diseases of the epidermis and appendages, skin pigmentation and skin cancer. In, Kumar, Dhavendra and Weatherall, David (eds.) Genomics and Clinical Medicine. Oxford, GB, Oxford University Press, 507-527. (Oxford Monographs on Medical Genetics).

Healy, Eugene, Jordan, Siobhán A., Budd, Peter S., Suffolk, Ruth, Rees, Jonathan L. and Jackson, Ian J. (2001) Functional variation of MC1R alleles from red-haired individuals. Human Molecular Genetics, 10, (21), 2397-2402. (doi:10.1093/hmg/10.21.2397).

Healy, Eugene, Rehman, Ishtiaq, Angus, Brian and Rees, Jonathan L. (1995) Brief communication. Loss of heterozygosity in sporadic primary cutaneous melanoma. Genes Chromosomes and Cancer, 12, (2), 152-156. (doi:10.1002/gcc.2870120211). (PMID:7535089).

Healy, Eugene, Sikkink, Stephen and Rees, Jonathan L. (1996) Infrequent mutation of p16INK4 in sporadic melanoma. Journal of Investigative Dermatology, 107, (3), 318-321. (doi:10.1111/1523-1747.ep12363118). (PMID:8751963).

Hearle, Nicholas, Lucassen, Anneke, Wang, Rubin, Lim, Wendy, Ross, Fiona, Wheeler, Robert, Moore, Isabella, Shipley, Janet and Houlston, Richard (2004) Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases. Genes, Chromosomes and Cancer, 41, (2), 163-169. (doi:10.1002/gcc.20067).

Hearle, Nicholas C.M., Tomlinson, Ian, Lim, Wendy, Murday, Victoria, Swarbrick, Edwin, Lim, Guan, Phillips, Robin, Lee, Peter, O'Donohue, John, Trembath, Richard C., Morrison, Patrick J., Norman, Andrew, Taylor, Rohan, Hodgson, Shirley, Lucassen, Anneke and Houlston, Richard S. (2005) Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. BMC Genomics, 6, (38) (doi:10.1186/1471-2164-6-38).

Hearn, Tom, Renforth, Glenn L., Spalluto, Cosma, Hanley, Neil A., Piper, Karen, Brickwood, Sarah, White, Chris, Connolly, Vincent, Taylor, James F.N., Russell-Eggitt, Isabelle, Bonneau, Dominique, Walker, Mark and Wilson, David I. (2002) Letter. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nature Genetics, 31, (1), 79-83. (doi:10.1038/ng874).

Hearn, Tom, Spalluto, Cosma, Phillips, Victoria, Renforth, Glenn L., Copin, Nane, Hanley, Neil A. and Wilson, David I. (2005) Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes, 54, (5), 1581-1587. (doi:10.2337/diabetes.54.5.1581).

Heckels, John E. and Williams, Jeanette N. (2010) The influence of genomics and proteomics on the development of potential vaccines against meningococcal infection. Genome Medicine, 2, (7), 43. (doi:10.1186/gm164). (PMID:20670394).

Hellier, K.D., Hatchwell, E., Duncombe, A.S., Kew, J. and Hammans, S.R. (2001) X-linked sideroblastic anaemia with ataxia: another mitochondrial disease? Journal of Neurology, Neurosurgery, and Psychiatry, 70, (1), 65-69. (doi:10.1136/jnnp.70.1.65).

Henderson, A.J., Newson, R.B., Rose-Zerilli, M., Ring, S.M., Holloway, J.W. and Shaheen, S.O. (2010) Maternal Nrf2 and gluthathione-S-transferase polymorphisms do not modify associations of prenatal tobacco smoke exposure with asthma and lung function in school-aged children. Thorax, 65, (10), 897-902. (doi:10.1136/thx.2009.125856).

Hennekam, Raoul C., Biesecker, Leslie G., Allanson, Judith E., Hall, Judith G., Opitz, John M., Temple, I Karen and Carey, John C. (2013) Elements of morphology: general terms for congenital anomalies. American Journal of Medical Genetics Part A, 161, (11), 2726-2733. (doi:10.1002/ajmg.a.36249).

Hewitson, Ruth, Dargan, James, Collis, David, Green, Aneta, Moorjahni, Narain, Ohri, Sunil and Townsend, Paul A. (2012) Heart failure: the pivotal role of histone deacetylases. The International Journal of Biochemistry & Cell Biology, 45, (2), 448-453. (doi:10.1016/j.biocel.2012.11.006).

Hidalgo-Curtis, Claire (2009) Abnormalities affecting tyrosine kinase signalling in atypical myeloproliferative disorders. University of Southampton, School of Medicine, Doctoral Thesis , 389pp.

Hidalgo-Curtis, Claire, Apperley, Jane F., Stark, Anthony, Jeng, Michael, Gotlib, Jason, Chase, Andrew, Cross, Nicholas C.P. and Grand, Francis H. (2010) Fusion of PDGFRB to two distinct loci at 3p21 and a third at 12q13 in imatinib-responsive myeloproliferative neoplasms. British Journal of Haematology, 148, (2), 268-273. (doi:10.1111/j.1365-2141.2009.07955.x).

Hildebrand, Michael S., Morín, Matías, Meyer, Nicole C., Mayo, Fernando, Modamio-Hoybjor, Silvia, Mencía, Angeles, Olavarrieta, Leticia, Morales-Angulo, Carmelo, Nishimura, Carla J., Workman, Heather, DeLuca, Adam P., del Castillo, Ignacio, Taylor, Kyle R., Tompkins, Bruce, Goodman, Corey W., Schrauwen, Isabelle, Van Wesemael, Maarten, Lachlan, K., Shearer, A. Eliot, Braun, Terry A., Huygen, Patrick L.M., Kremer, Hannie, Van Camp, Guy, Moreno, Felipe, Casavant, Thomas L., Smith, Richard J.H. and Moreno-Pelayo, Miguel A. (2011) DFNA8/12 caused by TECTA mutations is the most identified subtype of non-syndromic autosomal dominant hearing loss. Human Mutation, 32, (7), 825-834. (doi:10.1002/humu.21512). (PMID:21520338).

Hill, M.E., Creed, G.A., McMullan, T.F., Tyers, A.G., Hilton-Jones, D.,