| Effect of gene therapy on visual function in Leber's congenital amaurosis JWB Bainbridge, AJ Smith, SS Barker, S Robbie, R Henderson, ... New England Journal of Medicine 358 (21), 2231-2239, 2008 | 2422 | 2008 |
| OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 C Alexander, M Votruba, UEA Pesch, DL Thiselton, S Mayer, A Moore, ... Nature genetics 26 (2), 211-215, 2000 | 1581 | 2000 |
| A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants LG Fritsche, W Igl, JNC Bailey, F Grassmann, S Sengupta, ... Nature genetics 48 (2), 134-143, 2016 | 1457 | 2016 |
| Clinical features and natural history of von Hippel-Lindau disease ER Maher, JRW Yates, R Harries, C Benjamin, R Harris, AT Moore, ... QJM: An International Journal of Medicine 77 (2), 1151-1163, 1990 | 1143 | 1990 |
| Complement C3 variant and the risk of age-related macular degeneration JRW Yates, T Sepp, BK Matharu, JC Khan, DA Thurlby, H Shahid, ... New England Journal of Medicine 357 (6), 553-561, 2007 | 1124 | 2007 |
| Seven new loci associated with age-related macular degeneration Nature genetics 45 (4), 433-439, 2013 | 864 | 2013 |
| Long-term effect of gene therapy on Leber’s congenital amaurosis JWB Bainbridge, MS Mehat, V Sundaram, SJ Robbie, SE Barker, ... New England Journal of Medicine 372 (20), 1887-1897, 2015 | 799 | 2015 |
| Smoking and age related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal … JC Khan, DA Thurlby, H Shahid, DG Clayton, JRW Yates, M Bradley, ... British Journal of Ophthalmology 90 (1), 75-80, 2006 | 473 | 2006 |
| 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 | 427 | 2017 |
| A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant “zonular pulverulent” cataract, on chromosome 1q A Shiels, D Mackay, A Ionides, V Berry, A Moore, S Bhattacharya The American Journal of Human Genetics 62 (3), 526-532, 1998 | 417 | 1998 |
| A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13. 4 (RP11) EN Vithana, L Abu-Safieh, MJ Allen, A Carey, M Papaioannou, ... Molecular cell 8 (2), 375-381, 2001 | 411 | 2001 |
| 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 | 398 | 2021 |
| Missense mutations in MIP underlie autosomal dominant ‘polymorphic’and lamellar cataracts linked to 12q V Berry, P Francis, S Kaushal, A Moore, S Bhattacharya Nature genetics 25 (1), 15-17, 2000 | 361 | 2000 |
| Connexin46 mutations in autosomal dominant congenital cataract D Mackay, A Ionides, Z Kibar, G Rouleau, V Berry, A Moore, A Shiels, ... The American Journal of Human Genetics 64 (5), 1357-1364, 1999 | 344 | 1999 |
| Reviews of evidence regarding interventions to reduce tobacco use and exposure to environmental tobacco smoke DP Hopkins, PA Briss, CJ Ricard, CG Husten, VG Carande-Kulis, ... American journal of preventive medicine 20 (2), 16-66, 2001 | 335 | 2001 |
| Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans V Berry, P Francis, MA Reddy, D Collyer, E Vithana, I MacKay, G Dawson, ... The American Journal of Human Genetics 69 (5), 1141-1145, 2001 | 331 | 2001 |
| Identification and correction of mechanisms underlying inherited blindness in human iPSC-derived optic cups DA Parfitt, A Lane, CM Ramsden, AJF Carr, PM Munro, K Jovanovic, ... Cell stem cell 18 (6), 769-781, 2016 | 324 | 2016 |
| Two infant vision screening programmes: prediction and prevention of strabismus and amblyopia from photo-and videorefractive screening J Atkinson, O Braddick, B Bobier, S Anker, D Ehrlich, J King, P Watson, ... Eye 10 (2), 189-198, 1996 | 318 | 1996 |
| Molecular genetic basis of inherited cataract and associated phenotypes MA Reddy, PJ Francis, V Berry, SS Bhattacharya, AT Moore Survey of ophthalmology 49 (3), 300-315, 2004 | 316 | 2004 |
| Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions N Kumaran, AT Moore, RG Weleber, M Michaelides British journal of ophthalmology 101 (9), 1147-1154, 2017 | 314 | 2017 |
