Items where Division is "Current Faculties > Faculty of Medicine > Human Development and Health > Human Genetics and Genomic Medicine
Human Development and Health > Human Genetics and Genomic Medicine" and Year is 2020
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Number of items: 21.
Transposon clusters as substrates for aberrant splice-site activation - Maria Elena Vilar Alvarez, Martin Chivers, Ivana Borovska, Steven Monger, Eleni Giannoulatou, Jana Kralovicova and Igor Vorechovsky
Type: Article
| 2020
TTC7A variants previously described to cause enteropathy are observed on a single haplotype and appear non-pathogenic in pediatric inflammatory bowel disease patients - James Ashton, Enrico Mossotto, Robert Beattie and Sarah Ennis
Type: Letter
| 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes - James Ashton, Enrico Mossotto, Imogen Stafford, Rachel Haggarty, Tracy Coelho, Akshay Batra, Nadeem A. Afzal, Matthew Mort, David Bunyan, R. Mark Beattie and Sarah Ennis
Type: Article
| 2020
Analysis and hierarchical clustering of blood results prior to diagnosis in paediatric inflammatory bowel disease - James J. Ashton, Florina Borca, Enrico Mossotto, Hang T. T. Phan, Sarah Ennis and R. Mark Beattie
Type: Article
| 2020
Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders - Sonia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto-Kaufmann, Andrey Kajava, Damien Laouteouet, Rebecca Mawby, Htoo Wai, Alexander Dingemans, Bert De Vries, Marjorlaine Willems, Yline Capri, Sarju G. Mehta, Helen Cox, David Goudie, Fleur Vansenne, Peter Turnpenny, Marie Vincent, Gaetan Lesca, Jozef Hertecant, Diana Rodriguez, Gerard Marion, Audrey Putoux, Keri Ramsey, Vincent Kantagrel, Sidharth Banka, Ajoy Sarkar, Marcie Steeves, Michael Parker, Emma Clement, Serbastien Mouttton, Frederic Tran-Mau-Them, Amelie Piton, Matthew Guille, Anne Debant, Susanne Schmidt and Diana Baralle
Type: Article
| 2020
Delineation of a human Mendelian disorder of the DNA demethylation machinery: TET3 deficiency - David B. Beck, Ana Petracovici, Chongsheng He, Eleanor Seaby and Jill A. Fahrner
Type: Article
| 2020
| Item not available on this server.
Whole-exome sequencing for the identification of rare variants in primary immunodeficiency genes in children with sepsis: A prospective, population-based cohort study - Alessandro Borghesi, Johannes Trück, Samira Asgari, Vanessa Sancho-Shimizu, Philipp K A Agyeman, Evangelos Bellos, Eric Giannoni, Martin Stocker, Klara M Posfay-Barbe, Ulrich Heininger, Sara Bernhard-Stirnemann, Anita Niederer-Loher, Christian R Kahlert, Giancarlo Natalucci, Christa Relly, Thomas Riedel, Claudia E Kuehni, Christian W Thorball, Nimisha Chaturvedi, Federico Martinon-Torres, Taco W Kuijpers, Lachlan Coin, Victoria Wright, Jethro Herberg, Michael Levin, Christoph Aebi, Christoph Berger, Jacques Fellay and Luregn J Schlapbach
Type: Article
| 2020
| Item not available on this server.
Mutational mechanisms of EZH2 inactivation in myeloid neoplasms - Andrew Chase, Joannah Score, Feng Lin, Catherine Bryant, Katherine Waghorn, Sarah Yapp, Gonzalo Carreno-tarragona, Paula Aranaz, Aranzazu Villasante, Thomas Ernst and Nicholas C. P. Cross
Type: Article
| 2020
Immunological profiling of paediatric inflammatory bowel disease using unsupervised machine learning - Tracy Coelho, Enrico Mossotto, Yifang Gao, Rachel Haggarty, James J. Ashton, Akshay Batra, Imogen S. Stafford, Robert M. Beattie, Anthony P. Williams and Sarah Ennis
Type: Article
| 2020
Type: Article
| 2020
| Item not available on this server.
Evidence for 28 genetic disorders discovered by combining healthcare and research data - Joanna Kaplanis, Kaitlin E. Samocha and Laurens Wiel
Type: Article
| 2020
The mutational constraint spectrum quantified from variation in 141,456 humans - Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao and Eleanor Seaby
Type: Article
| 2020
| Item not available on this server.
Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length - C. Li, S. Stoma, L.A. Lotta, S. Warner, E. Albrecht, A. Allione, P.P. Arp, L. Broer, J.L. Buxton, Alexessander Couto Alves, J. Deelen, I.O. Fedko, S.D. Gordon, T. Jiang, R. Karlsson, N. Kerrison, T.K. Loe, M. Mangino, Y. Milaneschi, B. Miraglio, N. Pervjakova, A. Russo, I. Surakka, A. van der Spek, J.E. Verhoeven, N. Amin, M. Beekman, A.I. Blakemore, F. Canzian, S.E. Hamby, J.-J. Hottenga, P.D. Jones, P. Jousilahti, R. Mägi, S.E. Medland, G.W. Montgomery, D.R. Nyholt, M. Perola, K.H. Pietiläinen, V. Salomaa, E. Sillanpää, H.E. Suchiman, D. van Heemst, G. Willemsen, A. Agudo, H. Boeing, D.I. Boomsma, M.-D. Chirlaque, G. Fagherazzi, P. Ferrari, P. Franks, C. Gieger, J.G. Eriksson, M. Gunter, S. Hägg, I. Hovatta, L. Imaz, J. Kaprio, R. Kaaks, T. Key, V. Krogh, N.G. Martin, O. Melander, A. Metspalu, C. Moreno, N.C. Onland-Moret, P. Nilsson, K.K. Ong, K. Overvad, D. Palli, S. Panico, N.L. Pedersen, B.W.J.H. Penninx, J.R. Quirós, M.R. Jarvelin, M. Rodríguez-Barranco, R.A. Scott, G. Severi, P.E. Slagboom, T.D. Spector, A. Tjonneland, A. Trichopoulou, R. Tumino, A.G. Uitterlinden, Y.T. van der Schouw, C.M. van Duijn, E. Weiderpass, E.L. Denchi, G. Matullo, A.S. Butterworth, J. Danesh, N.J. Samani, N.J. Wareham, C.P. Nelson, C. Langenberg and V. Codd
Type: Article
| 2020
Maternal high fat diet in mice alters immune regulation and lung function in the offspring - Purevsuren Losol, Lindert P. Mercken, Helena L. Fisk, Philip C. Calder, John W. Holloway and Christopher Torrens
Type: Article
| 2020
A rare mutation in SPLUNC1 affects bacterial adherence and invasion in meningococcal disease - Bayarchimeg Mashbat, Evangelos Bellos, Stephanie Hodeib, Fadil Bidmos, Ryan S Thwaites, Yaxuan Lu, Victoria J Wright, Jethro A Herberg, Daniela S Klobassa, William G Walton, Werner Zenz, Trevor T Hansel, Simon Nadel, Paul R Langford, Luregn J Schlapbach, Ming-Shi Li, Matthew R Redinbo, Y Peter Di, Michael Levin and Vanessa Sancho-Shimizu
Type: Article
| 2020
| Item not available on this server.
Type: Dataset
| 2020
| Zenodo
| Item not available on this server.
Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies - Eleanor Seaby and Sarah Ennis
Type: Article
| 2020
A systematic review of the applications of artificial intelligence and machine learning in autoimmune diseases - I.S. Stafford, M. Kellermann, E. Mossotto, R.M. Beattie, B.D. MacArthur and S. Ennis
Type: Review
| 2020
OR33-07 ARNT2: a potential novel candidate gene for monogenic obesity in humans - Vidhu V Thaker, Eleanor G Seaby, Casie Genetti, Jacob Sutherland, Grazia Ianello, Farrah Rajabi, John M Schreiber, Claudia A Doege, Emre E Turer, Joel N Hirschhorn and Pankaj B Agrawal
Type: Article
| 2020
| Item not available on this server.
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance - Htoo Wai, Jenny Lord, Matthew S Lyon, Adam Gunning, Hugh Kelly, Penelope Cibin, Eleanor Seaby, Kerry Spiers-Fitzgerald, Jed Lye, Sian Ellard, N. Simon Thomas, David Bunyan, Andrew Douglas and Diana Baralle
Type: Article
| 2020
Generating longitudinal growth charts from preterm infants fed to current recommendations - Aneurin Young, Edward T. Andrews, James John Ashton, Freya Pearson, R. Mark Beattie and Mark John Johnson
Type: Article
| 2020