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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), pp. 553-565. (doi:10.1016/j.socscimed.2003.11.025).

Pearson, C.V.M., Rogers, A.D. and Sheader, M. (2002) The genetic structure of the rare lagoonal sea anemone, Nematostella vectensis (Cnidaria; Anthozoa) in the United Kingdom based on RAPD analysis Molecular Ecology, 11, (11), pp. 2285-2293. (doi:10.1046/j.1365-294X.2002.01621.x).

Koeppen-Schomerus, G., Stevenson, J. and Plomin, R. (2001) Genes and environment in asthma: a study of 4 year old twins Archives of Disease in Childhood, 85, (5), pp. 398-400.

Kuntsi, Jonna and Stevenson, Jim (2000) Hyperactivity in children: a focus on genetic research and psychological theories Clinical Child and Family Psychology Review, 3, (1), pp. 1-23. (doi:10.1023/A:1009580718281).

Price, Thomas S., Eley, Thalia C., Dale, Philip S., Stevenson, Jim, Sandino, Kim and Plomin, Robert (2000) Genetic and environmental covariation between verbal and nonverbal cognitive development in infancy Child Development, 71, (4), pp. 948-959. (doi:10.1111/1467-8624.00201).

Turic, D., Robinson, L., Duke, M., Morris, D.W., Webb, V., Hamshere, M., Milham, C., Hopkin, E., Pound, K., Fernando, S., Grierson, A., Easton, M., Williams, N., Van Den Bree, M., Chowdhury, R., Gruen, J., Stevenson, J., Krawczak, M., Owen, M.J., O'Donovan, M.C and Williams, J. (2003) Linkage disequilibrium mapping provides further evidence of a gene for reading disability on chromosome 6p21.3-22 Molecular Psychiatry, 8, (2), pp. 176-185. (doi:10.1038/sj.mp.4001216).

Kuntsi, Jonna and Stevenson, Jim (2001) Psychological mechanisms in hyperactivity: II. The role of genetic factors Journal of Child Psychology and Psychiatry, 42, (2), pp. 211-219. (doi:10.1017/S0021963001006710).

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 The American Journal of Human Genetics, 76, (4), pp. 581-591. (doi:10.1086/429131).

Morris, Derek W., Robinson, Lucie, Turic, Darko, Duke, Mary, Webb, Victoria, Milham, Charis, Hopkin, Elizabeth, Pound, Kirsty, Fernando, Shamiro, Easton, Martha, Hamshere, Marian, Williams, Nigel, McGuffin, Peter, Stevenson, Jim, Krawczak, Michael, Owen, Michael J., O’Donovan, Michael C. and Williams, Julie (2000) Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q Human Molecular Genetics, 9, (5), pp. 843-848. (doi:10.1093/hmg/9.5.843).

Morris, D.W., Ivanov, D., Robinson, L., Williams, N., Stevenson, J., Owen, M.J., Williams, J. and O'Donovan, M.C. (2004) Association analysis of two candidate phospholipase genes that map to the chromosome 15q15.1-15.3 region associated with reading disability American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 129B, pp. 97-103. (doi:10.1002/ajmg.b.30033).

Solinas, Antonio, Brown, Lynda J., McKeen, Catherine, Mellor, John M., Nicol, Jamie T.G., Thelwell, Nicky and Brown, Tom (2001) Duplex Scorpion primers in SNP analysis and FRET applications Nucleic Acids Research, 29, (20), pp. 1-9. (doi:10.1093/nar/29.20.e96). (PMID:11600715).

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), pp. 1633-1639. (doi:10.1093/nar/gkg273).

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), p. 1.

Osborne, Sadie D., Powers, Vicki E.C., Rusling, David A., Lack, Oliver, Fox, Keith R. and Brown, Tom (2004) Selectivity and affinity of triplex-forming oligonucleotides containing 2'-aminoethoxy-5-(3-aminoprop-1-ynyl)uridine for recognizing AT base pairs in duplex DNA Nucleic Acids Research, 32, (15), pp. 4439-4447. (doi:10.1093/nar/gkh776).

Yin, H.B., Brown, T., Wilkinson, J.S., Eason, R.W. and Melvin, T. (2004) Submicron patterning of DNA oligonucleotides on silicon Nucleic Acids Research, 32, (14), e118-[7pp]. (doi:10.1093/nar/gnh113).

Yingyongnarongkul, Boon-ek, Howarth, Mark, Elliott, Tim and Bradley, Mark (2004) Solid-phase synthesis of 89 polyamine-based cationic lipids for DNA delivery to mammalian cells Chemistry - A European Journal, 10, (2), pp. 463-473. (doi:10.1002/chem.200305232).

da Silva, A.A., Pawlowski, J. and Gooday, A.J. (2006) High diversity of deep-sea Gromia from the Arabian Sea revealed by small subunit rDNA sequence analysis Marine Biology, 148, (4), pp. 796-777. (doi:10.1007/s00227-005-0071-9).

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), pp. 4153-4157. (doi:10.1039/b511706b). (PMID:16267597).

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

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, pp. 3201-3203. (doi:10.1039/b500664c).

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), pp. 2579-2587. (doi:10.1039/b502197a).

Neylon, Cameron, Kralicek, Andrew V., Hill, Thomas M. and Dixon, Nicholas E. (2005) Replication termination in Escherichia coli: structure and antihelicase activity of the Tus-Ter complex Microbiology and Molecular Biology Reviews, 69, (3), pp. 501-526. (doi:10.1128/MMBR.69.3.501-526.2005).

Skinner, Alison C., Ashton, Emma J., Sillibourne, Julie, Brown, Tom, Collins, Amanda L. and Bunyan, David J. (2005) A new approach for the identification of common point mutations within the dystrophin gene using MLPA Journal of Medical Genetics, 42, (Supplement 1), S100-[1pp].

Whiteford, Nava, Haslam, Niall, Weber, Gerald, Prugel-Bennett, Adam, Essex, Jonathan W., Roach, Peter L., Bradley, Mark and Neylon, Cameron (2005) An analysis of the feasibility of short read sequencing Nucleic Acids Research, 33, (19), e171-[6pp]. (doi:10.1093/nar/gni170).

Ku, C.H., Browne, M., Gregson, P.J., Corbeil, J. and Pioletti, D.P. (2002) Large scale gene expression analysis of osteoblasts cultured on three different Ti-6Al-4V surface treatments Biomaterials, 23, (21), pp. 4193-4202. (doi:10.1016/S0142-9612(02)00161-8).

Mack, Till G.A., Reiner, Michael, Beirowski, Bogdan, Mi, Weiqian, Emanelli, Monica, Wagner, Diana, Thomson, Derek, Gillingwater, Tom, Court, Felipe, Conforti, Laura, Fernando, F. Shama, Tarlton, Andrea, Anderssen, Christian, Addicks, Klaus, Magni, Giulio, Ribchester, Richard R., Perry, V. Hugh and Coleman, Michael P. (2001) Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene Nature Neuroscience, 4, (12), pp. 1199-1206. (doi:10.1038/nn770).

Parker, J.D., Parker, K.M. and Keller, L. (2004) Molecular phylogenetic evidence for an extracellular Cu Zn superoxide dismutase gene in insects Journal of Insect Molecular Biology, 13, (6), pp. 587-594. (doi:10.1111/j.0962-1075.2004.00515.x).

Smith, David A.S., Lushai, Gugs and Allen, John A. (2005) A classification of Danaus butterflies (Lepidoptera: Nymphalidae) based upon data from morphology and DNA Zoological Journal of the Linnean Society, 144, (2), pp. 191-212. (doi:10.1111/j.1096-3642.2005.00169.x). (PMID:12571278).

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), pp. 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), pp. 145-151. (doi:10.1016/S0378-1119(01)00769-7).

Risitano, A. and Fox, K.R. (2004) Influence of loop size on the stability of intramolecular DNA quadruplexes Nucleic Acids Research, 32, (8), pp. 2598-2606. (doi:10.1093/nar/gkh598).

Rusling, David A., Powers, Vicki E.C., Ranasinghe, Rohan T., Wang, Yang, Osborne, Sadie D., Brown, Tom and Fox, Keith R. (2005) Four base recognition by triplex-forming oligonucleotides at physiological pH Nucleic Acids Research, 33, (9), pp. 3025-3032. (doi:10.1093/nar/gki625).

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).

Little, Peter (2001) The end of all human DNA maps? Nature Genetics, 27, (3), pp. 229-230. (doi:10.1038/85766).

Patch, Christine, Roderick, Paul and Rosenberg, William (2005) Comparison of genotypic and phenotypic strategies for population screening in hemochromatosis: Assessment of anxiety, depression, and perception of health Genetics in Medicine, 7, (8), pp. 550-556.

Powell, R., Ren, J., Lewith, G., Barclay, W., Holgate, S. and Almond, J. (2003) Identification of novel expressed sequences, up-regulated in the leucocytes of chronic fatigue syndrome patients Clinical & Experimental Allergy, 33, (10), pp. 1450-1456. (doi:10.1046/j.1365-2222.2003.01745.x).

Scheepers, P. T., Coggon, D., Knudsen, L. E., Anzion, R., Autrup, H., Bogovski, S., Bos, R. P., Dahmann, D., Farmer, P., Martin, E. A., Micka, V., Muzyka, V., Neumann, H. G., Poole, J., Schmidt-Ott, A., Seiler, F., Volf, J. and Zwirner-Baier, I. (2002) BIOMarkers for occupational diesel exhaust exposure monitoring (BIOMODEM)--a study in underground mining Toxicology Letters, 134, (1-3), pp. 305-317. (doi:10.1016/S0378-4274(02)00195-9).

Westwood, G., Pickering, R.M., Latter, S., Lucassen, A., Little, P. and Temple, I.K. (2006) Feasibility and acceptability of providing nurse counsellor genetics clinics in primary care Journal of Advanced Nursing, 53, (5), pp. 591-604. (doi:10.1111/j.1365-2648.2006.03760.x).

Ye, Shu, Dhillon, Sahar, Turner, Steven J., Bateman, Adrian C., Theaker, Jeffrey M., Pickering, Ruth M., Day, Ian and Howell, W. Martin (2001) Invasiveness of cutaneous malignant melanoma is influenced by matrix metalloproteinase 1 gene polymorphism Cancer Research, 61, (4), pp. 1296-1298.

O'Connor, V., Houtman, S.H., De Zeeuw, C.I., Bliss, T.V.P and French, P.J. (2004) Eml5, a novel WD40 domain protein expressed in rat brain Gene, 336, (1), pp. 127-137. (doi:10.1016/j.gene.2004.04.012).

O'Connor, Vincent, Genin, Alexis, Davis, Sabrina, Karishma, K.K., Doyère, Valerie, De Zeeuw, Chris I., Sanger, Gareth, Hunt, Stephen P., Richter-Levin, Gal, Mallet, Jaques, Laroche, Serge, Bliss, T.V.P. and French, Pim J. (2004) Differential amplification of intron-containing transcripts reveals long term potentiation-associated up-regulation of specific Pde10A phosphodiesterase splice variants The Journal of Biological Chemistry, 279, (16), pp. 15841-15849. (doi:10.1074/jbc.M312500200).

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), pp. 331-334. (doi:10.1046/j.1460-9568.2003.02462.x).

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), pp. 207-215. (doi:10.1016/S0306-4522(01)00408-0).

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), pp. 481-487. (doi:10.1182/blood.V98.13.3778).

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), pp. 364-371. (doi:10.1002/ijc.11257). (PMID:12845674).

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), pp. 589-597. (doi:10.1093/hmg/11.5.589).

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), pp. 1205-1212. (doi:10.1038/sj.ejhg.5201488).

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), pp. 1131-1136. (doi:10.1038/sj.ejhg.5201475).

Barber, J.C. (2005) Directly transmitted unbalanced chromosome abnormalities and euchromatic variants Journal of Medical Genetics, 42, (8), pp. 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), pp. 283-291. (doi:10.1038/sj.ejhg.5201267).

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), pp. 1263-1264.

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), pp. 531-551. (doi:10.1053/beha.2001.0153).

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), pp. 2130-2137. (doi:10.1016/S0735-1097(03)00482-0).

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 Part A, 105, (8), pp. 675-685. (doi:10.1002/ajmg.1551).

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), pp. 131-137.

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 BMJ, 330, (7481), pp. 1-5. (doi:10.1136/bmj.38300.665301.3A).

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), pp. 2319-2324. (doi:10.1093/humrep/deh409).

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), p. 13. (doi:10.1136/jmg.2004.024174).

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), p. 375.

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), pp. 1155-1159. (doi:10.1038/sj.bjc.6602121).

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), pp. 4997-5004. (doi:10.1242/10.1242/jcs.00846).

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), pp. 553-571. (doi:10.1053/beha.2001.0154).

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), pp. 329-343. (doi:10.1159/000072697).

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).

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), pp. 673-677. (doi:10.1007/s00125-006-0145-3).

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

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), pp. 298-302. (doi:10.1007/s00439-002-0887-z).

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), pp. 255-262. (doi:10.1002/humu.21).

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), pp. 2-9. (doi:10.1159/000081451).

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

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), pp. 154-160. (doi:10.1038/sj.ejhg.5201311).

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), pp. 67-80. (doi:10.1101/gr.213702).

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

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), pp. 1051-1056. (doi:10.1161/01.ATV.0000160351.95181.d0).

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), pp. 162-170. (doi:10.1002/cbic.200400246).

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), pp. 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 Lancet, 360, (9337), p. 945. (doi:10.1016/S0140-6736(02)11044-0).

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), pp. 454-462. (doi:10.1101/gr.3241705).

de la Fuente, Josu, Merx, Kirsten, Steer, E. Joanna, Müller, Martin, Szydlo, Richard M., Maywald, Ole, Berger, Ute, Hehlmann, Rüdiger, Goldman, John M., Cross, Nicholas C.P., Melo, Junia V. and Hochhaus, Andreas (2001) To the Editor. ABL-BCR expression does not correlate with deletions on the derivative chromosome 9 or survival in chronic myeloid leukemia Blood, 98, (9), 2879 - 2880.

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), pp. 259-271. (doi:10.1016/S1535-6108(03)00051-5).

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), pp. 3778-3783. (doi:10.1182/blood.V98.13.3778).

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), pp. 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), pp. 4898-4903. (doi:10.1210/jc.2004-0151).

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 The American Journal of Human Genetics, 72, (1), pp. 132-143. (doi:10.1086/345647).

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), pp. 150-153. (doi:10.1038/sj.ejhg.5201298).

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), pp. 535-541. (doi:10.1002/humu.1230).

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), pp. 503-504. (doi:10.1046/j.1469-1809.2001.6550503.x).

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), pp. 61-69. (doi:10.1002/humu.1150).

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), pp. 551-557. (doi:10.1161/01.ATV.0000117180.57731.36).

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), pp. 603-604. (doi:10.1023/A:1022007827133).

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), pp. 664-670. (doi:10.1136/jmg.40.9.664).

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), pp. 290-296. (doi:10.1007/s00439-002-0787-2).

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), pp. 27-33.

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), pp. 377-381. (doi:10.1002/ajmg.a.10199).

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), pp. 231-234. (doi:10.1007/s00439-002-0799-y).

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), pp. 1491-1501. (doi:10.1093/hmg/10.14.1491).

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).

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

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

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), pp. 705-712. (doi:10.1054/bjoc.2001.1987).

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, 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), pp. 1838-1849. (doi:10.1056/NEJMoa032922).

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), pp. 3932-3935. (doi:10.1210/jc.2004-0568).

Gloyn, Anna L., Reimann, Frank, Girard, Christophe, Edghill, Emma L., Proks, Peter, Pearson, Ewan R., Temple, I. Karen, 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), pp. 925-934. (doi:10.1093/hmg/ddi086).

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), pp. 2431-2446. (doi:10.1093/brain/awg242).

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), pp. 641-645.

Goverdhan, S.V., Lotery, A.J. and Howell, W.M. (2005) HLA and eye disease: a synopsis International Journal of Immunogenetics, 32, (6), pp. 333-342. (doi:10.1111/j.1744-313X.2005.00548.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 ? in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder Cancer Research, 64, (20), pp. 7216-7219. (doi:10.1158/0008-5472.CAN-04-2005).

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), pp. 1469-1472. (doi:10.1016/j.leukres.2005.05.002).

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), pp. 8-16. (doi:10.1136/jmg.2004.024141).

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), pp. 173-181. (doi:10.1007/s00439-001-0663-5).

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), pp. 5414-5422.

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), pp. 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), pp. 745-751.

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), pp. 958-965. (doi:10.1164/rccm.200409-1251OC).

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), pp. 57-68. (doi:10.1210/me.15.1.57).

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), pp. 520-530. (doi:10.1111/j.1365-2141.2005.05497.x).

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), pp. 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 The American Journal of Human Genetics, 69, (2), pp. 434-439. (doi:10.1086/321971).

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), pp. 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), pp. 1581-1587. (doi:10.2337/diabetes.54.5.1581).

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), pp. 65-69. (doi:10.1136/jnnp.70.1.65).

Hill, M.E., Creed, G.A., McMullan, T.F., Tyers, A.G., Hilton-Jones, D., Robinson, D.O. and Hammans, S.R. (2001) Oculopharyngeal muscular dystrophy. Phenotypic and genotypic studies in a UK population Brain, 124, (3), pp. 522-526. (doi:10.1093/brain/124.3.522).

Hochhaus, Andreas, Kreil, Sebastian, Corbin, Amie, La Rosee, Paul, Lahaye, Tanja, Berger, Ute, Cross, Nicholas C.P., Linkesch, Werner, Druker, Brian J., Hehlmann, Rudiger, Gambacorti- Passerini, Carlo, Corneo, Gianmarco and D'Incalci, Maurizio (2001) Roots of clinical resistance to STI-571 cancer therapy Science, 293, (5538), p. 2163. (doi:10.1126/science.293.5538.2163a).

Hochhaus, A., Lahaye, T., Kreil, S., Berger, U., Metzgeroth, G. and Hehlmann, R., Schadendorf, D.(ed.) (2001) Selektive hemmung von tyrosinkinasen als neues therapeutisches prinzip in der onkologie [Selective inhibition of tyrosine kinases - a new therapeutic principle in oncology] Onkologie, 24, (5), pp. 65-71. (doi:10.1159/000055190).

Hodgkinson, Conrad P. and Ye, Shu (2003) Microarray analysis of peroxisome proliferator-activated receptor-? induced changes in gene expression in macrophages Biochemical and Biophysical Research Communications, 308, (3), pp. 505-510. (doi:10.1016/S0006-291X(03)01416-5).

Holloway, J.W., Lonjou, C., Beghe, B., Peng, Q., Gaunt, T.R., Gomes, I., Hall, I.P., Dewar, J.C., Wilkinson, J., Thomas, N.S., Holgate, S.T. and Morton, N.E. (2001) Linkage analysis of the 5q31-33 candidate region for asthma in 240 UK families Genes and Immunity, 2, (1), pp. 20-24.

Holmes, C., Ballard, C., Lehmann, D., David Smith, A., Beaumont, H., Day, I.N., Nadeem Khan, M., Lovestone, S., McCulley, M., Morris, C.M., Munoz, D.G., O'Brien, K., Russ, C., Del Ser, T. and Warden, D. (2005) Rate of progression of cognitive decline in Alzheimer's disease: effect of butyrylcholinesterase K gene variation Journal of Neurology Neurosurgery and Psychiatry, 76, (5), pp. 640-643. (doi:10.1136/jnnp.2004.039321).

Houghton, F.D., Barr, K.J., Walter, G., Gabriel, H.D., Grummer, R., Traub, O., Leese, H J., Winterhager, E. and Kidder, G.M. (2002) Functional significance of gap junctional coupling in preimplantation development Biology of Reproduction, 66, (5), pp. 1403-1412.

Houghton, Franchesca D., Hawkhead, Judith A., Humpherson, Peter G., Hogg, Jan E., Balen, Adam H., Rutherford, Anthony J. and Leese, Henry J. (2002) Non-invasive amino acid turnover predicts human embryo developmental capacity Human Reproduction, 17, (4), pp. 999-1005. (doi:10.1093/humrep/17.4.999).

Houghton, Franchesca D. (2005) Role of gap junctions during early embryo development Reproduction, 129, (2), pp. 129-135. (doi:10.1530/rep.1.00277).

Howell, W.M., Bateman, A.C., Turner, S.J., Collins, A. and Theaker, J.M. (2002) Influence of vascular endothelial growth factor single nucleotide polymorphisms on tumour development in cutaneous malignant melanoma Genes and Immunity, 3, (4), pp. 229-232. (doi:10.1038/sj.gene.6363851).

Howell, W.M., Turner, S.J., Collins, A., Bateman, A.C. and Theaker, J.M. (2002) Influence of TNFalpha and LTalpha single nucleotide polymorphisms on susceptibility to and prognosis in cutaneous malignant melanoma in the British population European Journal of Immunogenetics, 29, (1), pp. 17-23. (doi:10.1046/j.1365-2370.2002.00269.x).

Howell, W.M., Ali, S., Rose-Zerilli, M.J. and Ye, S. (2005) VEGF polymorphisms and severity of atherosclerosis Journal of Medical Genetics, 42, (6), pp. 485-490. (doi:10.1136/jmg.2004.025734).

Huang, Shuwen, Cook, Derek G., Hinks, Lesley J., Chen, Xiao-he, Ye, Shu, Gilg, Julie A., Jarvis, Martin J., Whincup, Peter H. and Day, Ian N.M. (2005) CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents Pharmacogenetics and Genomics, 15, (12), pp. 839-850.

Humphries, S.E., Talmud, P.J., Hawe, E., Bolla, M., Day, I.N. and Miller, G.J. (2001) Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study Lancet, 358, (9276), pp. 115-119. (doi:10.1016/S0140-6736(01)05330-2).

Hyslop, Louise A., Carroll, Michael, Nixon, Victoria L., McDougall, Alex and Jones, Keith T. (2001) Simultaneous measurement of intracellular nitric oxide and free calcium levels in chordate eggs demonstrates that nitric oxide has no role at fertilization Developmental Biology, 234, (1), pp. 216-230. (doi:10.1006/dbio.2001.0252).

Ismail, A.R., Lachlan, K.L., Mumford, A.D., Temple, I.K. and Hodgkins, P.R. (2006) Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings European Journal of Ophthalmology, 16, (1), pp. 153-160.

Jaju, Rina J., Fidler, Carrie, Haas, Oskar A., Strickson, Amanda J., Watkins, Fiona, Clark, Kevin, Cross, Nicholas C.P., Cheng, Jan-Fang, Aplan, Peter D., Kearney, Lyndal, Boultwood, Jacqueline and Wainscoat, James S. (2001) A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia Blood, 98, (4), pp. 1264-1267. (doi:10.1182/blood.V98.4.1264).

Jia, Wei-Hua, Collins, Andrew, Zeng, Yi-Xin, Feng, Bing-Jian, Yu, Xing Juan, Huang, Li-Xi, Feng, Qi-Sheng, Huang, Ping, Yao, Ming Hong and Shugart, Yin Yao (2005) Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China) European Journal of Human Genetics, 13, (2), pp. 248-252. (doi:10.1038/sj.ejhg.5201305).

Jones, A.V. and Cross, N.C.P. (2004) Oncogenic protein tyrosine kinases: Oncogenic derivatives of platelet-derived growth factor receptors Cellular and Molecular Life Sciences (CMLS), 61, (23), pp. 2912-2923. (doi:10.1007/s00018-004-4272-z).

Jones, Amy V., Kreil, Sebastian, Zoi, Katerina, Waghorn, Katherine, Curtis, Claire, Zhang, Lingyan, Score, Joannah, Seear, Rachel, Chase, Andrew J., Grand, Francis H., White, Helen, Zoi, Christine, Loukopoulos, Dimitris, Terpos, Evangelos, Vervessou, Elisavet-Christine, Schultheis, Beate, Emig, Michael, Ernst, Thomas, Lengfelder, Eva, Hehlmann, Rüdiger, Hochhaus, Andreas, Oscier, David, Silver, Richard T., Reiter, Andreas and Cross, Nicholas C.P. (2005) Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders Blood, 106, (6), pp. 2162-2168. (doi:10.1182/blood-2005-03-1320).

Jones, Amy V., Silver, Richard T., Waghorn, Katherine, Curtis, Claire, Kreil, Sebastian, Zoi, Katerina, Hochhaus, Andreas, Oscier, David, Metzgeroth, Georgia, Lengfelder, Eva, Reiter, Andreas, Chase, Andrew and Cross, Nicholas C. (2006) Minimal molecular response in polycythemia vera patients treated with imatinib or interferon alpha Blood, 107, (8), pp. 3339-3341. (doi:10.1182/blood-2005-09-3917).

Jones, Elizabeth. A., Clement-Jones, Mark, James, Oliver. F. W. and Wilson, David. I. (2001) Differences between human and mouse alpha-fetoprotein expression during early development Journal of Anatomy, 198, (5), 555 - 559. (doi:10.1046/j.1469-7580.2001.19850555.x).

Jones, Elizabeth A., Tosh, David, Wilson, David I., Lindsay, Susan and Forrester, Lesley M. (2002) Hepatic differentiation of murine embryonic stem cells Experimental Cell Research, 272, (1), pp. 15-22. (doi:10.1006/excr.2001.5396).

Joyce, C.A., Dennis, N.R., Cooper, S. and Browne, C.E. (2001) Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH Human Genetics, 109, (4), pp. 440-451. (doi:10.1007/s004390100588).

Joyce, Christine A., Dennis, Nicholas R., Howard, Francis, Davis, Louisa M. and Thomas, N. Simon (2002) An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome European Journal of Human Genetics, 10, (11), pp. 707-714. (doi:10.1038/sj.ejhg.5200882).

Kajantie, Eero, Dunkel, Leo, Turpeinen, Ursula, Stenman, Ulf-Hakan, Wood, Peter J., Nuutila, Mika and Andersson, Sture (2003) Placental 11?-Hydroxysteroid Dehydrogenase-2 and fetal cortisol/cortisone shuttle in small preterm infants Journal of Clinical Endocrinology and Metabolism, 88, (1), pp. 493-500.

Kalidas, Kamini, Shaw, Adam C., Crosby, Andrew H., Newbury-Ecob, Ruth, Greenhalgh, Lynn, Temple, Isabel K., Law, Caroline, Patel, Amisha, Patton, Michael A. and Jeffery, Steve (2005) Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11 Journal of Human Genetics, 50, (1), pp. 21-25. (doi:10.1007/s10038-004-0212-x).

Ke, Xiayi, Collins, Andrew and Ye, Shu (2001) PIRA PCR designer for restriction analysis of single nucleotide polymorphisms Bioinformatics, 17, (9), pp. 838-839. (doi:10.1093/bioinformatics/17.9.838).

Ke, Xiayi, Tapper, William and Collins, Andrew (2001) LDB2000: sequence-based integrated maps of the human genome Bioinformatics, 17, (7), pp. 581-586.

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Ke, Xiayi, Thomas, N. Simon, Robinson, David O. and Collins, Andrew (2002) A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genes Human Genetics, 111, (6), 511 - 520. (doi:10.1007/s00439-002-0822-3).

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Ke, Xiayi, Hunt, Sarah, Tapper, William, Lawrence, Robert, Stavrides, George, Ghori, Jilur, Whittaker, Pamela, Collins, Andrew, Morris, Andrew P., Bentley, David, Cardon, Lon R. and Deloukas, Panos (2004) The impact of SNP density on fine-scale patterns of linkage disequilibrium Human Molecular Genetics, 13, (6), pp. 577-588. (doi:10.1093/hmg/ddh060).

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Kimber, J., McLean, B.N., Prevett, M. and Hammans, S.R. (2003) Allgrove or 4 "A" syndrome: An autosomal recessive syndrome causing multisystem neurological disease Journal of Neurology Neurosurgery and Psychiatry, 74, (5), pp. 654-657. (doi:10.1136/jnnp.74.5.654).

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Kralovicova, Jana, Gaunt, Tom R., Rodriguez, Santiago, Wood, Peter J., Day, Ian N.M. and Vorechovsky, Igor (2006) Variants in the human insulin gene that affect Pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2? Diabetes, 55, (1), pp. 260-264. (doi:10.2337/diabetes.55.01.06.db05-0773).

Lachlan, Katherine L., Collinson, Morag N., Sandford, Richard O.C., van Zyl, Berendine, Jacobs, Patricia A. and Thomas, N. Simon (2004) Functional disomy resulting from duplications of distal Xq in four unrelated patients Human Genetics, 115, (5), pp. 399-408. (doi:10.1007/s00439-004-1175-x).

Lachlan, Katherine L., Temple, I. Karen and Mumford, Andrew D. (2004) Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome European Journal of Human Genetics, 12, (10), pp. 790-796. (doi:10.1038/sj.ejhg.5201252).

Lachlan, K.L., Youings, S., Costa, T., Jacobs, P.A. and Thomas, N.S. (2006) A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions Human Genetics, 118, (5), pp. 640-651. (doi:10.1007/s00439-005-0081-1).

Lahaye, Tanja, Riehm, Birte, Berger, Ute, Paschka, Peter, Müller, Martin C., Kreil, Sebastian, Merx, Kirsten, Schwindel, Uwe, Schoch, Claudia, Hehlmann, Rüdiger and Hochhaus, Andreas (2005) Response and resistance in 300 patients with BCR-ABL-positive leukemias treated with imatinib in a single center: a 4.5-year follow-up Cancer, 103, (8), pp. 1659-1669. (doi:10.1002/cncr.20922).

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Lewis, S.J., Lawlor, D.A., Davey Smith, G., Araya, R., Timpson, N., Day, I.N.M. and Ebrahim, S. (2006) The thermolabile variant of MTHFR is associated with depression in the British Women's Heart and Health Study and a meta-analysis Molecular Psychiatry, 11, (4), pp. 352-360. (doi:10.1038/sj.mp.4001790).

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Coupe, A.M., Shield, J.P.H., Storr, J.N.P., Temple, I.K. and Robinson, D.O. (2002) Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus Human Genetics, 110, (2), pp. 139-144. (doi:10.1007/s00439-001-0671-5).

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Hahnemann, J.M.D., Boonen, S.E., Poerksen, S., Bunyan, D.J., White, H.E., Durston, V.J., Thomas, N.S., Robinson, D.O., Shield, J.P.H., Clayton-Smith, J. and Temple, I.K. (2006) Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus Human Genetics, 119, (1-2), pp. 179-184. (doi:10.1007/s00439-005-0127-4).

Maniatis, N., Collins, A., Xu, C.F., McCarthy, L.C., Hewett, D.R., Tapper, W., Ennis, S., Ke, X. and Morton, N.E. (2002) The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis Proceedings of the National Academy of Sciences of the United States of America, 99, (4), pp. 2228-2233.

Maniatis, N., Morton, N.E., Gibson, J., Xu, C.-F., Hosking, L.K. and Collins, A. (2005) The optimal measure of linkage disequilibrium reduces error in association mapping of affection status Human Molecular Genetics, 14, (1), pp. 145-153. (doi:10.1093/hmg/ddi019).

Marchbanks, R.M., Ryan, Margaret, Day, I.N.M., Owen, M., McGuffin, P. and Whatley, S.A. (2003) A mitochondrial DNA sequence variant associated with schizophrenia and oxidative stress Schizophrenia Research, 65, (1), 33 - 38. (doi:10.1016/S0920-9964(03)00011-2).

Martineau, Mary, Jalali, G. Reza, Barber, Kerry E., Broadfield, Zoë J., Cheung, Kan Luk, Lilleyman, John, Moorman, Anthony V., Richards, Sue, Robinson, Hazel M., Ross, Fiona and Harrison, Christine J. (2005) ETV6/RUNX1 fusion at diagnosis and relapse: some prognostic indications Genes, Chromosomes and Cancer, 43, (1), pp. 54-71. (doi:10.1002/gcc.20158).

Mc Lornan, D.P., Percy, M.J., Jones, A.V., Cross, N.C. and Mc Mullin, M.F. (2005) Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation Haematologica, 90, (12), pp. 1696-1697.

Milner, Katja M., Craig, Ellen E., Thompson, Russell J., Veltman, Marijcke W.M., Thomas, N. Simon, Roberts, Sian, Bellamy, Margaret, Curran, Sarah R., Sporikou, Caroline M.J. and Bolton, Patrick F. (2005) Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype Journal of Child Psychology and Psychiatry, 46, (10), pp. 1089-1096. (doi:10.1111/j.1469-7610.2005.01520.x).

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Morgan, Angharad R., Zhang, Baiping, Tapper, William, Collins, Andrew and Ye, Shu (2003) Haplotypic analysis of the MMP-9 gene in relation to coronary artery disease Journal of Molecular Medicine, 81, (5), pp. 321-326. (doi:10.1007/s00109-003-0441-z).

Morgan, David, Goodship, Judith, Essner, Jeffrey J., Vogan, Kyle J., Turnpenny, Lee, Yost, Joseph H., Tabin, Clifford J. and Strachan, Tom (2002) The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin Human Genetics, 110, (4), pp. 377-384. (doi:10.1007/s00439-002-0696-4).

Morton, Newton E. (2001) Darkness in El Dorado: human genetics on trial Journal of Genetics, 80, (1), pp. 45-52.

Morton, N. E. (2001) Complex inheritance: the 21st century Advances in Genetics, 42, pp. 535-543.

Morton, N.E., Zhang, W., Taillon-Miller, P., Ennis, S., Kwok, P.Y. and Collins, A. (2001) The optimal measure of allelic association Proceedings of the National Academy of Sciences of the United States of America, 98, (9), pp. 5217-5221. (doi:10.1073/pnas.091062198).

Morton, N.E. and Collins, A. (2002) Toward positional cloning with SNPs Current Opinion in Molecular Therapeutics, 4, (3), pp. 259-264.

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Ocaka, L., Spalluto, C., Wilson, D.I., Hunt, D.M. and Halford, S. (2005) Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3 Cytogenetic and Genome Research, 108, (4), pp. 293-302. (doi:10.1159/000081519).

Omar, H., Chamberlin, A., Walker, V. and Wood, P.J. (2001) Immulite 2000 parathyroid hormone assay: stability of parathyroid hormone in EDTA blood kept at room temperature for 48 h Annals of Clinical Biochemistry, 38, (5), pp. 561-563.

Palmer, L.J., Lonjou, C., Barnes, K., Chen, H., Cookson, W.O.C.M., Deichmann, K.A., Holloway, J.W., Laitinen, T., Wjst, M. and Morton, N.E. (2001) A retrospective collaboration on chromosome 5 by the International Consortium on Asthma Genetics (COAG) Clinical & Experimental Allergy, 31, (1), pp. 152-154. (doi:10.1046/j.1365-2222.2001.01040.x).

Pardanani, Animesh, Ketterling, Rhett P., Brockman, Stephanie R., Flynn, Heather C., Paternoster, Sarah F., Shearer, Brandon M., Reeder, Terra L., Li, Chin-Yang, Cross, Nicholas C.P., Cools, Jan, Gilliland, Gary, Dewald, Gordon W. and Tefferi, Ayalew (2003) CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy Blood, 102, (9), pp. 3093-3096. (doi:10.1182/blood-2003-05-1627).

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Parker, Keith L., Rice, Douglas A., Lala, Deepak S., Ikeda, Yayoi, Luo, Xunrong, Wong, Margaret, Bakke, Marit, Zhao, Liping, Frigeri, Claudia, Hanley, Neil A., Stallings, Nancy and Schimmer, Bernard P. (2002) Steroidogenic factor 1: an essential mediator of endocrine development Recent Progress in Hormone Research, 57, pp. 19-36.

Peacock, C.S., Collins, A., Shaw, M.-A., Silveira, F., Costa, J., Coste, C.H., Nascimento, M.D., Siddiqui, R., Shaw, J.J. and Blackwell, J.M. (2001) Genetic epidemiology of visceral leishmaniasis in northeastern Brazil Genetic Epidemiology, 20, (3), pp. 383-396. (doi:10.1002/gepi.8).

Peacock, C.S., Sanjeevi, C.B., Shaw, M.-A., Collins, A., Campbell, R.D., March, R., Silveira, F., Costa, J., Coste, C.H., Nascimento, M.D., Siddiqui, R., Shaw, J.J. and Blackwell, J.M. (2002) Genetic analysis of multicase families of visceral leishmaniasis in northeastern Brazil: no major role for class II or class III regions of HLA Genes and Immunity, 3, (6), pp. 350-358. (doi:10.1038/sj.gene.6363852).

Pearce, Eve, Tregouet, David-Alexandre, Samnegård, Ann, Morgan, Angharad R., Cox, Charles, Hamsten, Anders, Eriksson, Per and Ye, Shu (2005) Haplotype effect of the matrix metalloproteinase-1 gene on risk of myocardial infarction Circulation Research, 97, (10), pp. 1070-1076. (doi:10.1161/01.RES.0000189302.03303.11).

Phillips, H.M., Renforth, G.L., Spalluto, C., Hearn, T., Curtis, A.R., Craven, L., Havarani, B., Clement-Jones, M., English, C., Stumper, O., Salmon, T., Hutchinson, S., Jackson, M.S. and Wilson, D.I. (2002) Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis Genomics, 79, (4), 475 - 478. (doi:10.1006/geno.2002.6742).

Piper, K., Ball, S.G., Keeling, J.W., Mansoor, S., Wilson, D.I. and Hanley, N.A. (2002) Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia Mechanisms of Development, 116, (1-2), pp. 223-226. (doi:10.1016/S0925-4773(02)00145-4).

Piper, K., Ball, S.G., Turnpenny, L.W., Brickwood, S., Wilson, D.I. and Hanley, N.A. (2002) Letter. Observations. Beta-cell differentiation during human development does not rely on nestin-positive precursors: implications for stem cell-derived replacement therapy Diabetologia, 45, (7), pp. 1045-1047. (doi:10.1007/s00125-002-0864-z).

Price, C.J.S., Frankel, J.P. and Hammans, S.R. (2001) Palatal palsy in dermatomyositis European Journal of Neurology, 8, (2), pp. 197-198. (doi:10.1111/j.1468-1331.2001.00184.x).

Rankin, J., Pattenden, S., Abramsky, L., Boyd, P., Jordan, H., Stone, D., Vrijheid, M., Wellesley, D. and Dolk, H. (2005) Prevalence of congenital anomalies in five British regions, 1991-99 Archives of Disease in Childhood. Fetal and Neonatal Edition, 90, (5), F374-F379. (doi:10.1136/adc.2003.047902).

Rauz, S., Cheung, C.M., Wood, P.J., Coca-Prados, M., Walker, E.A., Murray, P.I. and Stewart, P.M. (2003) Inhibition of 11ß-hydroxysteroid dehydrogenase type 1 lowers intraocular pressure in patients with ocular hypertension QJM: An International Journal of Medicine, 96, (7), pp. 481-490.

Reddy, T. Damodar, Eccles, Diana M., Theaker, Jeffrey, Keeton, Barry R. and Temple, Karen (2001) Skin spots and heart tumors Journal of Pediatrics, 139, (6), pp. 901-902. (doi:10.1067/mpd.2001.119595).

Reiter, Andreas, Walz, Christoph, Watmore, Ann, Schoch, Claudia, Blau, Ilona, Schlegelberger, Brigitte, Berger, Ute, Telford, Nick, Aruliah, Shilani, Yin, John A., Vanstraelen, Danny, Barker, Helen F., Taylor, Peter C., O'Driscoll, Aisling, Benedetti, Fabio, Rudolph, Cornelia, Kolb, Hans-Jochem, Hochhaus, Andreas, Hehlmann, Rüdiger, Chase, Andrew and Cross, Nicholas C.P. (2005) The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2 Cancer Research, 65, (7), pp. 2662-2667.

Reynolds, R.M., Walker, B.R., Syddall, H.E., Andrew, R., Wood, P.J. and Phillips, D.I. (2005) Is there a gender difference in the associations of birthweight and adult hypothalamic-pituitary-adrenal axis activity? European Journal of Endocrinology, 152, (2), pp. 249-253. (doi:10.1530/eje.1.01846).

Rives, Susana, Alcorta, Inaki, Toll, Teresa, Tuset, Esperanza, Estella, Jesus and Cross, Nicholas C.P. (2005) Idiopathic hypereosinophilic syndrome in children: report of a 7-year-old boy with FIP1L1-PDGFRA rearrangement Journal of pediatric hematology/oncology, 27, (12), pp. 663-665.

Roberts, Sian E., Dennis, Nicholas R., Browne, Caroline E., Willatt, Lionel, Woods, Geoffrey C., Cross, Ian, Jacobs, Patricia A. and Thomas, Simon N. (2002) Characterisation of interstitial duplications and triplications of chromosome 15q11-q13 Human Genetics, 110, (3), pp. 227-234. (doi:10.1007/s00439-002-0678-6).

Roberts, S.E. and Thomas, N.S. (2003) A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region Clinical Genetics, 64, (1), pp. 76-78. (doi:10.1034/j.1399-0004.2003.00094.x).

Robinson, D.O., Hammans, S.R., Read, S.P. and Sillibourne, J. (2005) Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism Human Genetics, 116, (4), pp. 267-271. (doi:10.1007/s00439-004-1235-2).

Rodriguez, Santiago, Visedo, Guillermo and Zapata, Carlos (2001) Detection of errors in dinucleotide repeat typing by nondenaturing electrophoresis Electrophoresis, 22, (13), pp. 2656-2664. (doi:10.1002/1522-2683(200108)22:13<2656::AID-ELPS2656>3.0.CO;2-6).

Rodriguez, Santiago, Chen, Xiao-he, Miller, George J. and Day, Ian N. (2005) Non-recombining chromosome Y haplogroups and centromeric HindIII RFLP in relation to blood pressure in 2,743 middle-aged Caucasian men from the UK Human Genetics, 116, (4), pp. 311-318. (doi:10.1007/s00439-004-1221-8).

Ross, F.M., Ibrahim, A.H., Vilain-Holmes, A., Winfield, M.O., Chiecchio, L., Protheroe, R.K., Strike, P., Gunasekera, J.L., Jones, A., Harrison, C.J., Morgan, G.J. and Cross, N.C. (2005) Age has a profound effect on the incidence and significance of chromosome abnormalities in myeloma Leukemia, 19, (9), pp. 1634-1642. (doi:10.1038/sj.leu.2403857).

Roumiantsev, Sergei, Krause, Daniela S., Neumann, Carola A., Dimitri, Christopher A., Asiedu, Frances, Cross, Nicholas C.P. and Van Etten, Richard A. (2004) Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations Cancer Cell, 5, (3), pp. 287-298. (doi:10.1016/S1535-6108(04)00053-4).

Salahshor, Sima, Haixin, Lei, Huo, Huagang, Kristensen, Vessela N., Loman, Niklas, Sjoberg-Margolin, Sara, Borg, Ake, Borresen-Dale, Anne-Lise, Vorechovsky, Igor and Lindblom, Annika (2001) Low frequency of E-cadherin alterations in familial breast cancer Breast Cancer Research, 3, (3), pp. 199-207. (doi:10.1186/bcr295).

Sayers, I., Barton, S., Rorke, S., Beghe, B., Hayward, B., Van Eerdewegh, P., Keith, T., Clough, J.B., Ye, S., Holloway, J.W., Sampson, A.P. and Holgate, S.T. (2003) Allelic association and functional studies of promoter polymorphism in the leukotriene C4 synthase gene (LTC4S) in asthma Thorax, 58, (5), pp. 417-424. (doi:10.1136/thorax.58.5.417).

Scapoli, C., Trombelli, L., Mamolini, E. and Collins, A. (2005) Linkage disequilibrium analysis of case-control data: an application to generalized aggressive periodontitis Genes and Immunity, 6, (1), pp. 44-52. (doi:10.1038/sj.gene.6364152).

Scarabelli, Tiziano M., Pasini, Evasio, Ferrari, Gianna, Ferrari, Mario, Stephanou, Anastasis, Lawrence, Kevin, Townsend, Paul, Chen-Scarabelli, Carol, Gitti, Gianluca, Saravolatz, Louis, Latchman, David, Knight, Richard A. and Gardin, Julius M. (2004) Warm blood cardioplegic arrest induces mitochondrial-mediated cardiomyocyte apoptosis associated with increased urocortin expression in viable cells Journal of Thoracic Cardiovascular Surgery, 128, (3), pp. 364-371. (doi:10.1016/j.jtcvs.2003.11.028).

Seigel, Gail M., Lotery, Andrew, Kummer, Ari, Bernard, David J., Greene, Nicholas D.E., Turmaine, Mark, Derksen, Todd, Nussbaum, Robert L., Davidson, Beverly, Wagner, Janet and Mitchison, Hannah (2002) Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease) Molecular and Cellular Neuroscience, 19, (4), pp. 515-527. (doi:10.1006/mcne.2001.1099).

Sharp, A., Kusz, K., Jaruzelska, J., Szarras-Czapnik, M., Wolski, J. and Jacobs, P. (2004) Familial X/Y translocations associated with variable sexual phenotype Journal of Medical Genetics, 41, (6), pp. 440-444. (doi:10.1136/jmg.2003.017624).

Sharp, A.J., Spotswood, H.T., Robinson, D.O., Turner, B.M. and Jacobs, P.A. (2002) Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations Human Molecular Genetics, 11, (25), 3145 - 3156. (doi:10.1093/hmg/11.25.3145).

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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), pp. 1059-1064.

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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.

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

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

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

Collins, A. and Morton, N. (2007) Genome scanning by composite likelihood In, Weale, M. (eds.) Genetic Epidemiology II: Latest Developments. other; 2007-01-01 London, UK, Henry Stewart Talks (The Biomedical &amp; Life Sciences Collection).

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, None The ESHRE Capri Workshop Group (2008) Genetic aspects of female reproduction Human Reproduction Update, 14, (4), pp. 293-307. (doi:10.1093/humupd/dmn009).

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.

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 The American Journal of Human Genetics, 69, (4), p.232.

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

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.

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 and Metabolism, 88, (12), pp. 6088-6097. (doi:10.1210/jc.2003-030712).

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 &amp; Microplates: Applications in Biomedical Sciences. Oxford, UK, Garland Science pp. 145-165. (Advanced Methods).

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 pp. 836-841.

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 pp. 85-99.

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

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

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), pp. 222-228. (doi:10.1002/ajmg.a.10265).

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), pp. 434-441. (doi:10.1002/ajmg.a.31091).

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.

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).

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.

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.

Ellard, S., Flanagan, S.E., Girard, C.A., Patch, A.M., Harries, L.W., Parrish, A., Edghill, E.L., 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 The American Journal of Human Genetics, 81, (2), pp. 375-382. (doi:10.1086/519174).

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.

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

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

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. 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 The American Journal of Human Genetics, 73, (5), p. 377.

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 The American Journal of Human Genetics, 81, (4), pp. 847-856. (doi:10.1086/521226).

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., 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., 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.

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.

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. (eds.) Genetic Variance Detection: Technologies for Pharmacogenomics. USA, DNA Press pp. 131-144.

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 The American Journal of Human Genetics, 71, (2), pp. 276-285. (doi:10.1086/341610).

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.

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 and Metabolism, 89, (8), pp. 3932-3935.

Gloyn, A.L., 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.

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 Part A, 125, (2), pp. 177-180. (doi:10.1002/ajmg.a.20482).

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 and Visual Science, 45, p.U725.

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).

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.

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), pp. 2242-2248. (doi:10.1002/ajmg.a.31913).

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.

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 The American Journal of Human Genetics, 77, (6), pp. 999-1010. (doi:10.1086/498396).

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), pp. 288-289. (doi:10.1007/s00125-006-0358-5).

Hoivik, Erling A., Aumo, Linda, Aesoy, Reidun, Lillefosse, Haldis, Lewis, Aurelia E., Perrett, Rebecca M., Stallings, Nancy R., Hanley, Neil A. and Bakke, Marit (2008) Deoxyribonucleic acid methylation controls cell type specific expression of steroidogenic factor 1 Endocrinology, 149, (11), pp. 5599-5609. (doi:10.1210/en.2008-0104).

Hollox, E.J., Armour, J.A. and Barber, J.C. (2003) Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster The American Journal of Human Genetics, 73, (3), pp. 591-600. (doi:10.1086/378157).

Jacobs, P. (2003) Recurrent reciprocal translocations and inversions detectable by light microscopy Journal of Medical Genetics, 40, pp.S26.

Jacobs, Patricia A. and Robson, Bette (2008) Obituary: Marco Fraccaro European Journal of Human Genetics, 16, (8), p. 1024. (doi:10.1038/ejhg.2008.126).

Jenner, Matthew W., Walker, Brian A., Leone, Paola E. Leone, Gonzalez, David, Ross, Fiona M., Li, Cheng, Davies, Faith E. and Morgan, Gareth J. (2005) Poster sessions. Identification of collaborating oncogeneic events leading to disease progression in myeloma cases with a t(4;14) and t(11;14) using SNP and gene expression arrays Blood, 106, (11), 442A-443A.

Jenner, Matthew W., Leone, Paola E., Walker, Brian A., Johnson, David C., Chiecchio, Laura, Cabanas, Elisabet Dachs, Dagrada, Gian Paolo, Nightingale, Mathew, Protheroe, Rebecca K.M., Stockley, David, Else, Monica, Ross, Fiona M., Cross, Nicholas C.P., Davies, Faith E. and Morgan, Gareth J. (2006) Abnormalities of 16q in multiple myeloma are associated with poor prognosis: 500K gene mapping and expression correlations identify two potential tumor suppressor genes, WWOX and CYLD Blood, 108, (11), p.37A.

Jones, E., Crolla, J.A., Zwolinski, S A., Lynch, S.A. and Wright, M.J. (2002) Characterisation of a family with an interstitial 11p duplication Journal of Medical Genetics, 39, pp.S58.

Jovanovic, J., Reiter, A., Cilloni, D., Gottardi, E., Score, J., Popp, H., Metzgeroth, G., Walz, C., Hochhaus, A., Roche, C., Preudhomme, C., Rondoni, M., Ottaviani, E., Rancati, F., Solomon, E., Apperley, J., Martinelli, G., Saglio, G., Hehlmann, R., Cross, N.C.P. and Grimwade, D. (2005) Oral sessions. Sensitive detection of FIP1L1-PDGFRA fusion transcripts by real-time quantitative RT-PCR (RQ-PCR) reveals achievement of molecular remission in chronic eosinophilic leukemia treated with low-dose imatinib therapy Blood, 106, (11), p.145A.

Jovanovic, J., Score, J., Waghorn, K., Reiter, A., Gottardi, E., Saglio, G., Apperley, J., Martinelli, G., Preudhomme, C., Hehlmann, R., Grimwade, D. and Cross, N.C.P. (2006) Low-dose imatinib therapy leads to rapid induction of major molecular responses with achievement of molecular remission in FIP1L1 -PDGFRA associated hypereosinophilic syndrome British Journal of Haematology, 133, (s1), p.13. (doi:10.1111/j.1365-2141.2006.06027.x).

Kaeda, Jaspal, O'shea, Derville, Szydlo, Richard M., Olavarria, Eduardo, Dazzi, Francesco, Marin, David, Saunders, Susan, Khorashad, Jamshid S., Cross, Nicholas C.P., Goldman, John M. and Apperley, Jane F. (2006) Serial measurement of BCR-ABL transcripts in the peripheral blood after allogeneic stem cell transplant for chronic myeloid leukemia: an attempt to define patients who may not require further therapy Blood, 107, (10), pp. 4171-4176. (doi:10.1182/blood-2005-08-3320).

Kant, S.G., Van der Weij, A.M., Oostdijk, W., Wit, J.M., Robinson, D.O. and Temple, I.K. (2005) Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region Human Genetics, 117, (4), pp. 398-401. (doi:10.1007/s00439-005-1304-1).

Karcanias, A., Thomas, N.S., Jacobs, P.A., Mitchell, M.J. and Affara, N.A. (2006) Application of a sex chromosome tiling path BAC array for the CGH analysis of X and Y abnormalities Journal of Medical Genetics, 43, pp.S34.

Keay, R., McMullan, T.F.W., Tyers, A.D., Crolla, J.A. and Robinson, D.O. (2002) Human ZFH-4, a candidate gene for congenital bilateral the isolated ptosis Journal of Medical Genetics, 39, pp.S64.

Khatkar, Mehar S., Collins, Andrew, Cavanagh, Julie A.L., Hawken, Rachel J., Hobbs, Matthew, Zenger, Kyall R., Barris, Wes, McClintock, Alexander E., Thomson, Peter C., Nicholas, Frank W. and Raadsma, Herman W. (2006) A first-generation metric linkage disequilibrium map of bovine chromosome Genetics, 174, (1), pp. 79-85. (doi:10.1534/genetics.106.060418).

Khatkar, Mehar S., Nicholas, Mehar S., Collins, Andrew R., Zenger, Kyall R., Cavanagh, Julie A.L., Barris, Wes, Schnabel, Robert D., Taylor, Jeremy F. and Raadsma, Herman W. (2008) Extent of genome-wide linkage disequilibrium in Australian Holstein-Friesian cattle based on a high-density SNP panel BMC Genomics, 9, (187) (doi:10.1186/1471-2164-9-187).

Kimber, S.J., Sneddon, S.F., Bloor, D.J., El-Bareg, A.M., Hawkhead, J.A., Metcalfe, A.D., Houghton, F.D., Leese, H.J., Rutherford, A., Lieberman, B.A. and Brison, D.R. (2008) Expression of genes involved in early cell fate decisions in human embryos and their regulation by growth factors Reproduction, 135, (5), pp. 635-647. (doi:10.1530/REP-07-0359).

Královiová, Jana, Gaunt, Tom R., Rodriguez, Santiago, Wood, Peter J., Day, Ian N.M. and Voechovsky, Igor (2006) Variants in the Human Insulin Gene That Affect Pre-mRNA Splicing: Is -23HphI a Functional Single Nucleotide Polymorphism at IDDM2? Diabetes, 55, (1), pp. 260-264. (doi:10.2337/diabetes.55.01.06.db05-0773).

Královiová, Jana, Lei, Haixin and Voechovský, Igor (2006) Phenotypic consequences of branch point substitutions Human Mutation, 27, (8), pp. 803-813. (doi:10.1002/humu.20362).

Kramer, Alwin, Reiter, Andreas, Kruth, Jens, Erben, Philipp, Hochhaus, Andreas, Muller, Martin, Cross, Nicholas C., Jones, Amy V., Ho, Anthony D. and Hensel, Manfred (2007) JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia13 Lancet Oncol., 8, (7), pp. 658-660. (doi:10.1016/S1470-2045(07)70206-1).

Kreil, S., Muller, M.C., Lahaye, T., La Rosee, P., Corbin, A.S., Schoch, C., Cross, N.C.P., Berger, U., Rieder, H., Druker, B.J., Gschaidmeier, H., Hehlmann, R. and Hochhaus, A. (2001) Molecular and chromosomal mechanisms of resistance in CML patients after STI571 (Glivec) therapy Blood, 98, (11), pp.435A.

Kreil, Sebastian, Waghorn, Katherine, Pfirrmann, Markus, Reiter, Andreas, Hehlmann, Rudiger, Hochhaus, Andreas and Cross, Nicholas C.P. (2006) Heterogeneous prognostic impact of 9q+ deletions in patients with chronic myelogenous leukemia Blood, 108, (11), p.599A.

Kreil, S., Pfirrmann, M., Waghorn, K., Chase, A., Hehlmann, R., Reiter, A., Hochhaus, A. and Cross, N.C.P. (2007) Heterogeneous prognostic impact of derivative chromosome 9 deletions in chronic myelogenous leukaemia British Journal of Haematology, 137, (s1), p.24. (doi:10.1111/j.1365-2141.2007.06557.x).

Krone, Nils, Hanley, Neil A. and Arlt, Wiebke (2007) Age-specific changes in sex steroid biosynthesis and sex development Best Practice & Research Clinical Endocrinology & Metabolism, 21, (3), pp. 393-401. (doi:10.1016/j.beem.2007.06.001).

Kuo, Tai-Yue, Lau, Winston and Collins, Andrew R. (2008) LDMAP: the construction of high-resolution linkage disequilibrium maps of the human genome In, Collins, Andrew R. (eds.) Linkage Disequilibrium and Association Mapping: Analysis and Applications. Totowa, USA, Humana pp. 47-57. (Methods in Molecular Biology, 376). (doi:10.1007/978-1-59745-389-9_4).

Lachlan, K., Temple, I.K. and Wellesley, D. (2003) Intracerebral calcification in a child with 22q11 deletion syndrome Journal of Medical Genetics, 40, pp.S35.

Lachlan, K., Collinson, M.N., Sandford, R.O.C., Van Zyl, B., Jacobs, P.A. and Thomas, N.S. (2004) Functional disomy resulting from duplications of distal Xq2 Journal of Medical Genetics, 41, pp.S39.

Lachlan, K. and Thomas, N.S. (2005) A clinical study of 26 females with deletions of Xp including 5 mother daughter pairs Journal of Medical Genetics, 42, pp.S60.

Lachlan, K.L., Lucassen, A.M., Bunyan, D. and Temple, I.K. (2007) Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers Journal of Medical Genetics, 44, (9), pp. 579-585. (doi:10.1136/jmg.2007.049981).

Lau, Winston, Kuo, Tai-Yue, Tapper, William, Cox, Simon and Collins, Andrew (2007) Exploiting large scale computing to construct high resolution linkage disequilibrium maps of the human genome BMC Bioinformatics, 23, (4), pp. 517-519. (doi:10.1093/bioinformatics/btl615).

Lawlor, Debbie A., Gaunt, Tom R., Hinks, Lesley J., Smith, George Davey, Timpson, Nick, Day, Ian N.M. and Ebrahim, Shah (2006) The association of the PON1 Q192R polymorphism with complications and outcomes of pregnancy: findings from the British Women's Heart and Health cohort study Paediatric and Perinatal Epidemiology, 20, (3), pp. 244-250. (doi:10.1111/j.1365-3016.2006.00716.x).

Lawlor, Debbie A., Timpson, Nick, Ebrahim, Shah, Day, Ian N.M. and Smith, George Davey (2006) The association of oestrogen receptor alpha-haplotypes with cardiovascular risk factors in the British Women's Heart and Health Study European Heart Journal, 27, (13), pp. 1597-1604. (doi:10.1093/eurheartj/ehi833).

Leone, Paola E., Walker, Brian A., Gonzalez, David, Jenner, Matthew, Ross, Fiona M., Li, Cheng, Davies, Faith E. and Morgan, Gareth J. (2005) Status of chromosome 13 in multiple myeloma: Integrated approach using SNP mapping array and gene expression array Blood, 106, (11), 448A-449A.

Leone, Paola E., Jenner, Matthew W., Walker, Brian A., Johnson, David C., Gonzalez, David, Ross, Fiona M., Davies, Faith E. and Morgan, Gareth J. (2006) Fine mapping and expression analysis of chromosome 1 with the aim of defining critically deregulated genes important in the pathogenesis of myeloma Blood, 108, (11), p.37A.

Leone, Paola E., Walker, Brian A., Dickens, Nicholas J., Jenner, Matthew W., Johnson, David C., Ross, Fiona M., Davies, Faith E. and Morgan, Gareth J. (2007) Screening of homozygous deletions identifies key deregulated genes and pathways in multiple myeloma Blood, 110, (11), p.730A.

Liao, Webber, Collins, Andrew, Hobbs, Matthew, Khatkar, Mehar S., Luo, Junhong and Nicholas, Frank W. (2007) A comparative location database (CompLDB): map integration within and between species Mammalian Genome, 18, (5), pp. 287-299. (doi:10.1007/s00335-007-9020-x).

Macdonald, Donald and Cross, Nicholas C. (2007) Chronic myeloproliferative disorders: the role of tyrosine kinases in pathogenesis, diagnosis and therapy Pathobiology, 74, (2), pp. 81-88. (doi:10.1159/000101707).

Macdonald, D., Reiter, A. and Cross, N.C.P. (2003) The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1 In, Bain, B.J. (eds.) Chronic Myeloproliferative Disorders: Cytogenetic and Molecular Genetic Abnormalities. Basel, Switzerland, Karger pp. 62-68. (doi:10.1159/000068098).

Robinson, D.O., Boonen, S.E., Clayton-Smith, J., Goodship, J., Hahnemann, J.M.D., Kant, S.G., Njolstad, P.A.L., Robin, N.H., Siebert, R., Shield, J.P.H., White, H.E. and Temple, I.K. (2006) A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus Journal of Medical Genetics, 43, pp.S17.

Callaway, Jonathan L.A., Marks, Sophie M., White, Helen E., Acerini, Carlo L., Boonen, Susanne E., Dayanikli, Pinar, Firth, Helen V., Goodship, Judith A., Haemers, Andreas P., Hahnemann, Johanne M.D., Kordonouri, Olga, Masoud, Ahmed F., Oestergaard, Elsebet, Storr, John, Ellard, Sian, Hattersley, Andrew T., Robinson, David O. and Temple, I. Karen (2008) Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 Nature Genetics, 40, (8), pp. 949-951. (doi:10.1038/ng.187).

Maggouta, F., Roberts, S.E., Dennis, N.R., Veltman, M.W. and Crolla, J.A. (2003) A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype Journal of Medical Genetics, 40, (7), e84.

Maguire, Andrew, Hellier, Kate, Hammans, Simon and May, Alison (2001) X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L British Journal of Haematology, 115, (4), pp. 910-917. (doi:10.1046/j.1365-2141.2001.03015.x).

Malmer, B., Iselius, L., Holmberg, E., Collins, A., Henriksson, R. and Grönberg, H. (2001) Genetic epidemiology of glioma British Journal of Cancer, 84, (3), pp. 429-434. (doi:10.1054/bjoc.2000.1612).

Maloney, V., Barber, J. and Crolla, A. (2003) Expansion in the use and availability of FISH probes via the National Genetics Reference Laboratory (NGRL) Wessex and international human genomic resources Journal of Medical Genetics, 40, pp.S58.

Maniatis, Nikolas, Collins, Andrew, Gibson, Jane, Zhang, Weihua, Tapper, William and Morton, Newton E. (2003) Positional cloning by linkage disequilibrium The American Journal of Human Genetics, 73, (5), pp. 846-855. (doi:10.1086/383589).

Maniatis, Nikolas, Collins, Andrew and Morton, Newton E. (2007) Effects of single SNPs, haplotypes, and whole-genome LD maps on accuracy of association mapping Genetic Epidemiology, 31, (3), pp. 179-188. (doi:10.1002/gepi.20199).

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Manoukian, Siranoush, Crolla, John A., Mammoliti, Palma M.A., Testi, Maria Adele, Zanini, Rinaldo, Carpanelli, Maria Luisa, Piozzi, Elena, Sozzi, Gabriella, De Vecchi, Giovanna, Terenziani, Monica, Spreafico, Filippo, Collini, Paola, Radice, Paolo and Perotti, Daniela (2005) Bilateral preaxial polydactyly in a WAGR syndrome patient American Journal of Medical Genetics Part A, 134A, (4), pp. 426-429. (doi:10.1002/ajmg.a.30647).

Marshall, Jan D., Hinman, Elizabeth G., Collin, Gayle B., Beck, Sebastian, Cerqueira, Rita, Maffei, Pietro, Milan, Gabriella, Zhang, Weidong, Wilson, David I., Hearn, Tom, Tavares, Purificação, Vettor, Roberto, Veronese, Caterina, Martin, Mitchell, So, W. Venus, Nishina, Patsy M. and Naggert, Jürgen K. (2007) Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome Human Mutation, 28, (11), pp. 1114-1123. (doi:10.1002/humu.20577).

Mattocks, C., Baralle, D., Ffrench-Constant, C., Tarpey, P., Bobrow, M. and Whittaker, J. (2001) Development of a diagnostic service for neurofibromatosis type 1 facilitated by automated data analysis Journal of Medical Genetics, 38, pp.S70.

Mattocks, C., Tarpey, P.S., Whittaker, J.L., Harvey, J.F. and Cross, N.C.P. (2003) A large scale validation of prototype software for high throughput Comparative Sequence Analysis Journal of Medical Genetics, 40, pp.S79.

Mattocks, C., Harvey, J.F. and Cross, N.C.P. (2003) An evaluation of the AutoGen NA-3000EU automatic nucleic acid isolation system Journal of Medical Genetics, 40, pp.S78.

Mattocks, C., Baralle, D., Tarpey, P., Ffrench-Constant, C., Bobrow, M. and Whittaker, J. (2004) Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain4 Journal of Medical Genetics, 41, (4), e48.

Mattocks, C., White, H.E., Owen, N., Durston, V.J., Harvey, J.F. and Cross, N.C.P. (2004) An evaluation of the MassCLEAVE(tm) biochemistry for diagnostic screening Journal of Medical Genetics, 41, pp.S75.

McBrien, Jacqueline, Crolla, John Anthony, Huang, Shuwen, Kelleher, Jerry, Gleeson, John and Lynch, Sally Ann (2008) Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion American Journal of Medical Genetics Part A, 146A, (12), pp. 1587-1592. (doi:10.1002/ajmg.a.32347).

Melotte, C., Debrock, S., Vanneste, E., D'Hooghe, T., Crolla, J., De Ravel, T., Legius, E., Frijns, J. P. and Vermeesch, J. R. (2007) Preimplantation genetic diagnosis for microdeletions using FISH Chromosome Research, 15, (Supplement 1), pp. 237-238. (doi:10.1007/s10577-007-1911-x).

Moore, C., Daly, E.M., Tassone, F., Schmitz, N., Hagerman, P., Jacobs, P., Davies, K., Murphy, K.C. and Murphy, D.G.M. (2001) Neuroanatomical effect of FMR1 gene mRNA in premutation carriers of Fragile X syndrome Journal of Medical Genetics, 38, pp.S39.

Morton, Newton E. (2008) A history of association mapping In, Collins, Andrew R. (eds.) Linkage Disequilibrium and Association Mapping. Totowa, USA, Humana pp. 17-21. (Methods in Molecular Biology, 376). (doi:10.1007/978-1-59745-389-9).

Moule, S.P., Hsu, J., Eccersley, L., Cotton, C., Sandell, S., Robinson, D.O., Cross, N., Bimolah, R., Kaur, N., Abrahamson, G., Philpott, N. and Brito-Babapulle, F. (2007) An audit of the economic consequences of early JAK2 testing in the investigation of a raised haemoglobin British Journal of Haematology, 137, (s1), p.49. (doi:10.1111/j.1365-2141.2007.06557.x).

Ostrer, H., Wilson, D.I. and Hanley, N.A. (2006) Human embryo and early fetus research Clinical Genetics, 70, (2), pp. 98-107. (doi:10.1111/j.1399-0004.2006.00640.x).

Packham, G., Rogers, H., Habens, F., Cecil, A.R.L., Hill, T., Townsend, P.A. and Ganesan, A. (2007) Novel synthetic analogues of the natural product histone deacetylase inhibitor FK2286289 Molecular Cancer Therapeutics, 6, (12), p.3428S.

Pender, S.L.F., Croucher, P.J., Mascheretti, S., Prothero, J.D., Fisher, S.A., MacDonald, T.T., Schreiber, S. and Ye, S. (2004) Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn's disease Journal of Medical Genetics, 41, (9), e112. (doi:10.1136/jmg.2004.023572).

Pereira, Lutécia H. Mateus, Pineda, Marbin A., Rowe, William H., Fonseca, Libia R., Greene, Mark H., Offit, Kenneth, Ellis, Nathan A., Zhang, Jinghui, Collins, Andrew and Struewing, Jeffery P. (2007) The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies BMC Genetics, 8, (68) (doi:10.1186/1471-2156-8-68).

Perrett, Rebecca M., Turnpenny, Lee, Eckert, Judith J., O'shea, Marie, Sonne, Si Brask, Cameron, Iain T., Wilson, David I., Rajpert-De Meyts, Ewa R. and Hanley, Neil A. (2008) The early human germ cell lineage does not express SOX2 during in vivo development or upon in vitro culture Biology of Reproduction, 78, (5), pp. 852-858. (doi:10.1095/biolreprod.107.066175). (PMID:18199879).

Pfirrmann, M., Kreil, S., Haferlach, C., Wagdorn, K., Chase, A., Hehlmann, R., Reiter, A., Hochhaus, A. and Cross, N.C.P. (2007) Multiple analyses affirm the independent adverse influence of ABL/BCR breakpoint spanning deletions on surival in chronic myeloid leukemia Haematologica, 92, (Supplement 1), p.205.

Phillips, H.M., Renforth, G., Jackson, M., Clement-Jones, M., Craven, L., Havarani, B. and Wilson, D.I. (2001) Characterisation of a novel gene on distal 11q as a potential candidate for Hypoplastic Left Heart Syndrome The American Journal of Human Genetics, 69, (4), p.618.

Piper, A., Boyle, T.A., Thomas, N.S. and Maloney, V. (2005) Prenatal detection of a maternally transmitted deletion of Xp1 Journal of Medical Genetics, 42, pp.S77.

Piper, K., Ball, S.G., Turnpenny, L.W., Brickwood, S., Wilson, D.I. and Hanley, N.A. (2002) Beta-cell differentiation during human development does not rely on nestin-positive precursors: implications for stem cell-derived replacement therapy Diabetologia, 45, (7), pp. 1045-1047. (doi:10.1007/s00125-002-0864-z).

Pourgourides, E., Heath, C., Melo, J.V., Rahemtulla, A. and Cross, N.C.P. (2001) Specific action of FGFR inhibitors against t(4;14) positive myeloma cells Blood, 98, (11), 370A-371A.

Rahman, N., Douglas, J., Hanks, S., Temple, I.K., Hughes, H.E. and Cole, T. (2002) Intragenic mutations of NSD1 are a major cause of Sotos syndrome and Weaver syndrome but do not account for other overgrowth phenotypes Journal of Medical Genetics, 39, pp.S23.

Ramsden, Simon C., Deans, Zandra, Robinson, David O., Mountford, Roger, Sistermans, Erik A., Grody, Wayne W., McQuaid, Shirley, Patton, Simon J. and Stenhouse, Susan A.R. (2006) Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland Genetic Testing, 10, (3), pp. 147-156. (doi:10.1089/gte.2006.10.147).

Raponi, Michela and Baralle, Diana (2008) Can donor splice site recognition occur without the involvement of U1 snRNP? Biochemical Society Transactions, 36, (3), pp. 548-550. (doi:10.1042/BST0360548). (PMID:18482005).

Reiter, A., Saussele, S., Grimwade, D., Wiemels, J.L., Segal, M., Weisser, A., Hochhaus, A., Willer, A., Reichert, A., Buchner, T., Lengfelder, E., Hehlmann, R. and Cross, N.C.P. (2001) Genomic anatomy of the t(15;17): significant subclustering of genomic breakpoints within RAR alpha intron Blood, 98, (11), pp.586A.

Reiter, A.E.K., Walz, C.F.H., Schoch, C., Chase, A.J., Fuchs, R., Hochhaus, A., Hehlmann, R. and Cross, N.C.P. (2003) Characterization of two new fusion genes in the 8p11 myeloproliferative syndrome (EMS) generated by disruption of FGFR Blood, 102, (11), pp.108A.

Rivera, H., Dominguez, M.G., Crolla, J.A., Harrison, C.J. and Jalali, G.R. (2007) A de novo (1;2;3;15;18) chromosome rearrangement with six nonreciprocal translocations Genetic Counseling, 18, (3), pp. 289-293.

Robert, M.L.P., Tumpenny, P.D., Lopez, T., Crolla, J. and Burvill-Holmes, L. (2005) Alagille syndrome with deletion 20p12.2-p13 and hypoplastic left heart Journal of Medical Genetics, 42, pp.S51.

Robinson, D., McMullan, T.F.W., Tyers, A.G., Crolla, J.A. and Carter, N. (2001) A search for genes for congenital bilateral isolated ptosis Journal of Medical Genetics, 38, pp.S62.

Robinson, D.O., Keay, R., Crolla, J.A., Tyers, A.G. and McMullan, T.F.W. (2002) The human homologue of the mouse zfh-4 gene is a candidate gene for congenital bilateral isolated ptosis The American Journal of Human Genetics, 71, (4), p.538.

Robinson, D.O., Wills, A.J., Hammans, S.R., Read, S.P. and Sillibourne, J. (2006) Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation2 Journal of Medical Genetics, 43, (5), e23. (doi:10.1136/jmg.2005.037598).

Rodriguez, Santiago, Gaunt, Tom R., Dennison, Elaine, Chen, Xiao-he, Syddall, Holly E., Phillips, Davide I.W., Cooper, Cyrus and Day, Ian N.M. (2006) Replication of IGF2-INS-TH(*)5 haplotype effect on obesity in older men and study of related phenotypes European Journal of Human Genetics, 14, (1), pp. 109-116. (doi:10.1038/sj.ejhg.5201505).

Roumiantsev, S., Krause, D.S., Neumann, C.A., Dimitri, C., Asiedu, F., Daley, G.Q., Cross, N.C.P. and Van Etten, R.A. (2002) Stem cell myeloproliferative disease and T-lymphoma induced in mice by the ZNF198-FGFR1 fusion gene of human 8p11 myeloproliferative syndrome Blood, 100, (11), pp.141A.

Roworth, W., Bunyan, D.J., Robinson, D.O. and Harvey, J.F. (2007) A novel test for the detection of inversion mutations Journal of Medical Genetics, 44, pp.S88.

Salas-Cortes, L., Hanley, N., Fellous, M. and McElreavey, K. (2001) Identification of human SRY-interacting factors The American Journal of Human Genetics, 69, (4), p.342.

Sandell, S., Bunyan, D.J., Durston, V.J., White, H., Bullman, H., Connarty, M., Thomas, N.S. and Harvey, J.F. (2005) Analysis of both the H19 and KCNQ1OT1 DMRs in Beckwith-Wiedemann Syndrome using two newly developed methylation specific PCRs Journal of Medical Genetics, 42, pp.S107.

Score, J., Calasanz, M.J., Pane, F., Ottmann, O., Cross, N.C.P. and Grand, F.H. (2007) Analysis of T(9;22) breakpoints indicates that P210 and P190BCR-ABL are formed by distinct mechanisms Haematologica, 92, (supplement 1), p. 1.

Self, James E., Shawkat, Fatima, Malpas, Crispin T., Thomas, N. Simon, Harris, Christopher M., Hodgkins, Peter R., Chen, Xiaoli, Trump, Dorothy and Lotery, Andrew J. (2007) Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus Archives of Ophthalmology, 125, (9), pp. 1255-1263. (doi:10.1001/archopht.125.9.1255). (PMID:17846367).

Sharp, Andrew, Robinson, David O. and Jacobs, Patricia (2001) Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation Human Genetics, 109, (3), pp. 295-302. (doi:10.1007/s004390100578).

Sharp, A., Tapper, W., Strike, P., Robinson, D. and Jacobs, P. (2002) LINE repeats are associated with the spread of X inactivation The American Journal of Human Genetics, 71, (4), p.217.

Sharp, A., Tapper, W., Strike, P., Robinson, D. and Jacobs, P. (2002) LINE repeats are associated with the spread of X inactivation Journal of Medical Genetics, 39, pp.S15.

Sharp, A., Kusz, K., Jaruzelska, J., Tapper, W., Szarras-Czapnik, M., Wolski, J. and Jacobs, P. (2005) Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects Journal of Medical Genetics, 42, (5), pp. 420-427. (doi:10.1136/jmg.2004.022053).

Shaw-Smith, C., Rickman, L., Gribble, S., Willatt, L., Prigmore, E., Porter, K., Curley, R., Whittaker, J., Dunn, C., Firth, H., Wilson, L., Clayton-Smith, J., Temple, K., Fryer, A. and Carter, N. (2005) Update on detection of submicroscopic chromosomal imbalances in patients with learning disability and dysmorphic features by array-based comparative genomic hybridization (array-CGH) at 1 Mb resolution Journal of Medical Genetics, 42, pp.S33.

Shugart, Yin Y., Feng, Bing-Jian and Collins, Andrew (2002) The power and statistical behaviour of allele-sharing statistics when applied to models with two disease loci Journal of Genetics, 81, (3), pp. 99-103.

Sillibourne, J. and Robinson, D.O. (2001) Oculopharyngeal muscular dystrophy: not all mutations are pure (GCG) expansions Journal of Medical Genetics, 38, pp.S60.

Silver, Richard T., Jones, Amy V., Feldman, Eric J., Roboz, Gail J., Ritchie, Ellen K. and Cross, Nicholas C.P. (2005) Validation of JAK2 and new clinical criteria for the diagnosis of Polycythemia Vera (PV) Blood, 106, (11), p.323B.

Silver, Richard T., Vandris, Katherine, Wang, Y. Lynn, Christos, Paul J., Adriano, Fernando, Jones, Amy V. and Cross, Nicholas C.P. (2007) JAK2(V617F) mutational load in patients with Polycythemia Vera (PV) measured by peripheral blood DNA is associated with disease severity Blood, 110, (11), p.746A.

Simoes, Manuel S., Score, Joannah, Cross, Nicholas C.P., Apperley, Jane F. and Melo, Junia V. (2007) How cured are CML patients in complete molecular remission (CMR) after stem cell transplantation or imatinib? Blood, 110, (11), p.306A.

Smith, Matthew J., Alharbi, Khalid K., Aldahmesh, Mohammed A., Pante-de-Sousa, Gabriella, Hou, Guangwei, Chen, Xiao-he, Gaunt, Tom R., Eccles, Diana M., Fox, Keith R. and Day, Ian N.M. (2004) MADGE-based technologies for identification of unknown mutations at the population level: MeltMADGE and EndoVII-MADGE In, Hecker, Karl H. (eds.) Genetic Variance Detection: Technologies for Pharmacogenomics. Glendale, US, DNA Press pp. 145-152. (The Nuts &amp; Bolts Series).

Steer, E.J. and Cross, N.C.P. (2003) Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor beta In, Bain, B.J. (eds.) Chronic Myeloproliferative Disorders: Cytogenetic and Molecular Genetic Abnormalities. Basel, Switzerland, Karger pp. 69-79. (doi:10.1159/000068099).

Stokes, Paula J., Hawkhead, Judith A., Fawthrop, Richard K., Picton, Helen M., Sharma, Vinay, Leese, Henry J. and Houghton, Franchesca D. (2007) Metabolism of human embryos following cryopreservation: implications for the safety and selection of embryos for transfer in clinical IVF Human Reproduction, 22, (3), pp. 829-835. (doi:10.1093/humrep/del447).

Strefford, J., Griffiths, M.J., Ross, F.M. and Harrision, C.J. (2004) Comparative genomic hybridisation onto array slides reveals specific DNA copy number changes in acute lymphoblastic leukaemia (ALL) Journal of Medical Genetics, 41, pp.S22.

Sumption, N.D. and Barber, J.C. (2001) A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities Journal of Medical Genetics, 38, (2), pp. 125-127. (doi:10.1136/jmg.38.2.125).

Swerdlow, Anthony J., Schoemaker, Minouk J., Higgins, Craig D., Wright, Alan F. and Jacobs, Patricia A. (2008) Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study Human Genetics, 123, (2), pp. 215-224. (doi:10.1007/s00439-008-0465-0).

Tabiner, M., Youings, S., Dennis, N., Baldwin, D., Buis, C., Mayers, A.G., Jacobs, P.A. and Crolla, J.A. (2003) Poster session P.3. Anxiety disorder and anxiolytic, P.3.033. Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines European Neuropsychopharmacology, 13, (Supplement 4), p.S367. (doi:10.1016/S0924-977X(03)92153-5).

Tapper, William, Collins, Andrew and Morton, Newton E. (2007) Mapping a gene for rheumatoid arthritis on chromosome 18q21 BMC Proceedings, 1, (Suppl 1), p.S18.

Tapper, William (2008) Linkage disequilibrium maps and location databases In, Collins, Andrew R. (eds.) Linkage Disequilibrium and Association Mapping: Analysis and Applications. Totowa, USA, Humana pp. 23-45. (Methods in Molecular Biology, 376). (doi:10.1007/978-1-59745-389-9_3).

Tapper, William, Gibson, Jane, Morton, Newton E. and Collins, Andrew (2008) A comparison of methods to detect recombination hotspots Human Heredity, 66, (3), pp. 157-169. (doi:10.1159/000126050).

Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T.R., Das, S., Horn, D., Hughes, H.E., Temple, I.K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A. and Rahman, N. (2005) Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations The American Journal of Human Genetics, 77, (2), pp. 193-204. (doi:10.1086/432082).

Temple, I.K., Shrubb, V., Lever, M. and Bullman, H. (2007) Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14 Journal of Medical Genetics, 44, (10), pp. 637-640. (doi:10.1136/jmg.2007.050807).

Temple, I. Karen and Westwood, Greta (2006) Do Once and Share: clinical genetics , London, UK National Health Service 72pp.

Temple, K., Davies, E.J. and Robinson, D.O. (2007) 6q24 transient neonatal diabetes: more than just diabetes Journal of Medical Genetics, 44, pp.S30.

Thomas, N.S., Roberts, S.E., Browne, C.E., Dennis, N.R. and Jacobs, P.A. (2001) Molecular characterisation of interstitial duplications and triplications involving chromosome 15q11-q13 The American Journal of Human Genetics, 69, (4), p.556.

Thomas, S., Maloney, V., Bunyan, D.J., Cross, N.C.P. and Harvey, J.F. (2003) Investigation of the SHOX gene and Pseudoautosomal Region 1 in cases of Leri-Weill dyschondrosteosis Journal of Medical Genetics, 40, pp.S84.

Thomas, S., Ito-Sanz, S., Huber, C., Del Blanco, D.G., Za-Carmona, M., Crolla, J.A., Maloney, V., Argente, J., Campos-Barros, A., Cormier-Daire, V. and Heath, K E. (2005) Deletions 3 ' of the SHOX gene in patients with LWD suggest a novel position effect Journal of Medical Genetics, 42, pp.S26.

Thomson, J.J., Moonim, M., Van der Walt, J., Grattan, C., Lawlor, F., White, J., Cross, N.C.P., Harrison, C. and Radia, D. (2008) A single centre experience of mastocytosis: Guy's and St Thomas' NHS Foundation Trust British Journal of Haematology, 141, (s1), p.62. (doi:10.1111/j.1365-2141.2008.07061.x).

Tischkowitz, M., Morgan, N.V., Hodgson, S.V., Eddy, C., Ball, S., Langabeer, S., Vorechovsky, I., Grimwade, D. and Mathew, C. (2001) Mutation analysis of the Fanconi Anaemia group A, C, E, F and G genes in sporadic acute myeloid leukaemia Journal of Medical Genetics, 38, pp.S55.

Tischkowitz, M.D., Morgan, N.V., Eddy, C., Ball, S., Langabeer, S.E., Vorechovsky, I., Stoeger, R., Grimwade, D., Mathew, C.G. and Hodgson, S.V. (2002) Are Fanconi Anaemia genes inactivated in sporadic acute myeloid leukemia? European Journal of Human Genetics, 10, p.90.

Turner, C., Lachlan, K., Amerasinghe, N., Maloney, V., Barber, J. and Temple, I.K. (2004) Kabuki syndrome: novel ocular findings but no evidence of 8p22-23.1 duplications in a clinically defined cohort Journal of Medical Genetics, 41, pp.S49.

Upadhyaya, M., Huson, S.M., Davies, M., Giovannini, S., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpoint, M., Hachen, R., Stevenson, D., Viskochil, D., Wallace, P., Barnicoat, A., Chuzhanova, N., Baralle, D., Lazaro, C., Haan, E., Turnpenny, P. and Messiaen, L. (2006) An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c.2970_2972 deIAAT Journal of Medical Genetics, 43, pp.S75.

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Van Heyningen, V., Hoovers, J.M., De Kraker, J. and Crolla, J.A. (2007) Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion Journal of Medical Genetics, 44, (12), pp. 787-790. (doi:10.1136/jmg.2007.051318).

Vasudevan, P.C., Walker, D.A., Kulak, S., Yobb, T., Wilson, H.L., Artifoni, L., Dallapiccola, B., Crolla, J.A., Maloney, V., Quarrell, O.W.J. and McDermid, H.E. (2004) Interstitial deletion involving 22q(13): a phenocopy of the terminal 22q(13) deletion syndrome? Journal of Medical Genetics, 41, pp.S55.

Vorechovsky, Igor, Kralovicova, Jana, Plebani, Alessandro, Hammarstrom, Lennart and Webster, David (2002) Genetic dissection of common primary immunodeficiencies in man Clinical Immunology, 103, (3, Supplement 1), p.S134. (doi:10.1006/clim.2002.5242).

Vorechovsky, Igor (2006) Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization Nucleic Acids Research, 34, (16), pp. 4630-4641. (doi:10.1093/nar/gkl535).

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Walker, Brian A., Jenner, Matthew W., Leone, Poala E., Dickens, Nicholas J., Johnson, David C., Ross, Fiona M., Davies, Faith E. and Morgan, Gareth J. (2007) Mutation and methylation analysis of WWOX and CYLD on 16q: potential tumor suppressor genes in myeloma Blood, 110, (11), p.729A.

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Webster, Andrew R., Heon, Elise, Lotery, Andrew J., Vandenburgh, Kimberlie, Casavant, Thomas L., Oh, Kean T., Beck, Gretel, Fishman, Gerald A., Lam, Byron L., Levin, Alex, Heckenlively, John R., Jacobson, Samuel G., Weleber, Richard G., Sheffield, Val C. and Stone, Edwin M. (2001) An analysis of allelic variation in the ABCA4 gene Investigative Ophthalmology and Visual Science, 42, (6), pp. 1179-1189.

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Lawlor, D., Ebrahim, S., Day, I.M.N., Gaunt, T.R., Hinks, L.J., Briggs, P.J., Timpson, N. and Smith, G.D. (2004) The association of the PON1 Q192R polymorphism with coronary heart disease: findings from the British Womens Heart and Health prospective cohort study and a meta-analysis European Heart Journal, 25, supplement 1, p.531.

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