Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial RE MacLaren, M Groppe, AR Barnard, CL Cottriall, T Tolmachova, ... The Lancet 383 (9923), 1129-1137, 2014 | 908 | 2014 |
Seven new loci associated with age-related macular degeneration Nature genetics 45 (4), 433-439, 2013 | 880 | 2013 |
Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan B Zbar, T Kishida, F Chen, L Schmidt, ER Maher, FM Richards, ... Human mutation 8 (4), 348-357, 1996 | 630 | 1996 |
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 484 | 2021 |
Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 469 | 2020 |
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 450 | 2017 |
Genetic influence on early age-related maculopathy: a twin study CJ Hammond, AR Webster, H Snieder, AC Bird, CE Gilbert, TD Spector Ophthalmology 109 (4), 730-736, 2002 | 342 | 2002 |
Biallelic mutation of BEST1 causes a distinct retinopathy in humans R Burgess, ID Millar, BP Leroy, JE Urquhart, IM Fearon, E De Baere, ... The American Journal of Human Genetics 82 (1), 19-31, 2008 | 334 | 2008 |
Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa CF Chakarova, MM Hims, H Bolz, L Abu-Safieh, RJ Patel, ... Human molecular genetics 11 (1), 87-92, 2002 | 314 | 2002 |
Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors. AH Prowse, AR Webster, FM Richards, S Richard, S Olschwang, ... American journal of human genetics 60 (4), 765, 1997 | 291 | 1997 |
Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation AR Webster, ER Maher, AT Moore Archives of Ophthalmology 117 (3), 371-378, 1999 | 286 | 1999 |
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. ER Maher, AR Webster, FM Richards, JS Green, PA Crossey, SJ Payne, ... Journal of Medical Genetics 33 (4), 328-332, 1996 | 285 | 1996 |
An analysis of allelic variation in the ABCA4 gene AR Webster, E Héon, AJ Lotery, K Vandenburgh, TL Casavant, KT Oh, ... Investigative ophthalmology & visual science 42 (6), 1179-1189, 2001 | 262 | 2001 |
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 | 259 | 2015 |
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration AR Webster, K Vandenburgh, LM Streb, RR Hockey, AJ Lotery, ... Nature genetics 20 (4), 328-329, 1998 | 246 | 1998 |
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia S Kohl, D Zobor, WC Chiang, N Weisschuh, J Staller, IG Menendez, ... Nature genetics 47 (7), 757-765, 2015 | 228 | 2015 |
Visual acuity after retinal gene therapy for choroideremia TL Edwards, JK Jolly, M Groppe, AR Barnard, CL Cottriall, T Tolmachova, ... New England Journal of Medicine 374 (20), 1996-1998, 2016 | 227 | 2016 |
NMNAT1 mutations cause Leber congenital amaurosis MJ Falk, Q Zhang, E Nakamaru-Ogiso, C Kannabiran, Z Fonseca-Kelly, ... Nature genetics 44 (9), 1040-1045, 2012 | 222 | 2012 |
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans Z Li, PI Sergouniotis, M Michaelides, DS Mackay, GA Wright, S Devery, ... The American Journal of Human Genetics 85 (5), 711-719, 2009 | 221 | 2009 |
The zebrafish eye—a paradigm for investigating human ocular genetics R Richardson, D Tracey-White, A Webster, M Moosajee Eye 31 (1), 68-86, 2017 | 209 | 2017 |