| The UK10K project identifies rare variants in health and disease Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ... Nature 526 (7571), 82-90, 2015 | 1080 | 2015 |
| Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity LC Tsoi, SL Spain, J Knight, E Ellinghaus, PE Stuart, F Capon, J Ding, ... Nature genetics 44 (12), 1341-1348, 2012 | 1050 | 2012 |
| Genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 A Strange, F Capon, CCA Spencer, J Knight, ME Weale, MH Allen, ... Nature genetics 42 (11), 985, 2010 | 1017 | 2010 |
| Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis A Onoufriadis, MA Simpson, AE Pink, P Di Meglio, CH Smith, ... The American Journal of Human Genetics 89 (3), 432-437, 2011 | 558 | 2011 |
| 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 | 399 | 2015 |
| 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 | 324 | 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 | 311 | 2013 |
| 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 | 243 | 2016 |
| 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 | 206 | 2013 |
| Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms D Antony, A Becker‐Heck, MA Zariwala, M Schmidts, A Onoufriadis, ... Human mutation 34 (3), 462-472, 2013 | 202 | 2013 |
| Rare variants in NR2F2 cause congenital heart defects in humans S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ... The American Journal of Human Genetics 94 (4), 574-585, 2014 | 181 | 2014 |
| Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy P Ostergaard, MA Simpson, A Mendola, P Vasudevan, FC Connell, ... The American Journal of Human Genetics 90 (2), 356-362, 2012 | 181 | 2012 |
| CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation R Hjeij, A Onoufriadis, CM Watson, CE Slagle, NT Klena, GW Dougherty, ... The American Journal of Human Genetics 95 (3), 257-274, 2014 | 177 | 2014 |
| Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia DJ Moore, A Onoufriadis, A Shoemark, MA Simpson, PI Zur Lage, ... The American Journal of Human Genetics 93 (2), 346-356, 2013 | 176 | 2013 |
| A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 Nature genetics 42 (11), 985-990, 2010 | 148 | 2010 |
| X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ... Nature communications 8 (1), 14279, 2017 | 143 | 2017 |
| Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype P Ostergaard, MA Simpson, G Brice, S Mansour, FC Connell, ... Journal of medical genetics 48 (4), 251-255, 2011 | 117 | 2011 |
| Whole-genome sequence-based analysis of thyroid function PN Taylor, E Porcu, S Chew, PJ Campbell, M Traglia, SJ Brown, ... Nature communications 6 (1), 5681, 2015 | 112 | 2015 |
| Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects KA Williamson, J Rainger, JAB Floyd, M Ansari, A Meynert, KV Aldridge, ... The American Journal of Human Genetics 94 (2), 295-302, 2014 | 105 | 2014 |
| Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm A Onoufriadis, A Shoemark, MM Munye, CT James, M Schmidts, M Patel, ... Journal of medical genetics 51 (1), 61-67, 2014 | 104 | 2014 |
