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Timing, rates and spectra of human germline mutation R Rahbari, A Wuster, SJ Lindsay, RJ Hardwick, LB Alexandrov, S Al Turki, ... Nature genetics 48 (2), 126-133, 2016 | 941 | 2016 |
Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling TB Huber, B Hartleben, J Kim, M Schmidts, B Schermer, A Keil, L Egger, ... Molecular and cellular biology, 2003 | 501 | 2003 |
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015 | 429 | 2015 |
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ... Nature genetics 48 (9), 1060-1065, 2016 | 421 | 2016 |
Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains TB Huber, M Simons, B Hartleben, L Sernetz, M Schmidts, E Gundlach, ... Human molecular genetics 12 (24), 3397-3405, 2003 | 393 | 2003 |
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling CV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ... Nature genetics 46 (2), 188-193, 2014 | 389 | 2014 |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs AC Merveille, EE Davis, A Becker-Heck, M Legendre, I Amirav, G Bataille, ... Nature genetics 43 (1), 72-78, 2011 | 376 | 2011 |
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry H Olbrich, M Schmidts, C Werner, A Onoufriadis, NT Loges, J Raidt, ... The American Journal of Human Genetics 91 (4), 672-684, 2012 | 334 | 2012 |
DYX1C1 is required for axonemal dynein assembly and ciliary motility A Tarkar, NT Loges, CE Slagle, R Francis, GW Dougherty, JV Tamayo, ... Nature genetics 45 (9), 995-1003, 2013 | 325 | 2013 |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing LR Lopes, A Zekavati, P Syrris, M Hubank, C Giambartolomei, ... Journal of medical genetics 50 (4), 228-239, 2013 | 323 | 2013 |
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia HM Mitchison, M Schmidts, NT Loges, J Freshour, A Dritsoula, RA Hirst, ... Nature genetics 44 (4), 381-389, 2012 | 316 | 2012 |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms JR Panizzi, A Becker-Heck, VH Castleman, DA Al-Mutairi, Y Liu, ... Nature genetics 44 (6), 714-719, 2012 | 295 | 2012 |
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure MR Knowles, MW Leigh, JL Carson, SD Davis, SD Dell, TW Ferkol, ... Thorax 67 (5), 433-441, 2012 | 257 | 2012 |
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 256 | 2015 |
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects NT Loges, H Olbrich, A Becker-Heck, K Häffner, A Heer, C Reinhard, ... The American Journal of Human Genetics 85 (6), 883-889, 2009 | 254 | 2009 |
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ... Nature communications 7 (1), 11491, 2016 | 248 | 2016 |
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan KJ Carss, E Stevens, AR Foley, S Cirak, M Riemersma, S Torelli, ... The American Journal of Human Genetics 93 (1), 29-41, 2013 | 248 | 2013 |
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ... The American Journal of Human Genetics 93 (5), 915-925, 2013 | 242 | 2013 |
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia A Onoufriadis, T Paff, D Antony, A Shoemark, D Micha, B Kuyt, ... The American Journal of Human Genetics 92 (1), 88-98, 2013 | 224 | 2013 |