| 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 | 2456 | 2008 |
| 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 |
| Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1 RH Henderson, DS Mackay, Z Li, P Moradi, P Sergouniotis, ... British journal of ophthalmology 95 (6), 811-817, 2011 | 130 | 2011 |
| Novel mutations in MERTK associated with childhood onset rod-cone dystrophy DS Mackay, RH Henderson, PI Sergouniotis, Z Li, P Moradi, GE Holder, ... Molecular vision 16, 369, 2010 | 106 | 2010 |
| A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction RH Henderson, KA Williamson, JS Kennedy, AR Webster, GE Holder, ... Molecular vision 15, 2442, 2009 | 100 | 2009 |
| The oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders A Patel, JD Hayward, V Tailor, R Nyanhete, H Ahlfors, C Gabriel, ... Ophthalmology 126 (6), 888-907, 2019 | 95 | 2019 |
| A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity AD Borman, LR Pearce, DS Mackay, K Nagel‐Wolfrum, AE Davidson, ... Human mutation 35 (3), 289-293, 2014 | 82 | 2014 |
| RDH12 retinopathy: novel mutations and phenotypic description DS Mackay, AD Borman, P Moradi, RH Henderson, Z Li, GA Wright, ... Molecular vision 17, 2706, 2011 | 82 | 2011 |
| An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy RH Henderson, N Waseem, R Searle, J van der Spuy, I Russell-Eggitt, ... Investigative ophthalmology & visual science 48 (12), 5684-5689, 2007 | 80 | 2007 |
| Wound‐related complications and clinical outcomes following open globe injury repair GYX Kong, RH Henderson, SS Sandhu, RW Essex, PJ Allen, ... Clinical & experimental ophthalmology 43 (6), 508-513, 2015 | 70 | 2015 |
| Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans RH Henderson, Z Li, MM Abd El Aziz, DS Mackay, MA Eljinini, M Zeidan, ... Molecular vision 16, 46, 2010 | 67 | 2010 |
| Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes J Whitworth, PS Smith, JE Martin, H West, A Luchetti, F Rodger, G Clark, ... The American Journal of Human Genetics 103 (1), 3-18, 2018 | 65 | 2018 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 62 | 2019 |
| Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study LJ Teoh, AL Solebo, JS Rahi, J Abbott, W Abdullah, G Adams, L Allen, ... The Lancet Child & Adolescent Health 5 (3), 190-200, 2021 | 55 | 2021 |
| Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study AD Borman, LA Ocaka, DS Mackay, C Ripamonti, RH Henderson, ... Investigative ophthalmology & visual science 53 (7), 3927-3938, 2012 | 52 | 2012 |
| Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations DS Mackay, LA Ocaka, AD Borman, PI Sergouniotis, RH Henderson, ... Investigative ophthalmology & visual science 52 (6), 3032-3038, 2011 | 44 | 2011 |
| Immediate sequential bilateral pediatric vitreoretinal surgery: an international multicenter study Y Yonekawa, WC Wu, S Kusaka, J Robinson, D Tsujioka, KB Kang, ... Ophthalmology 123 (8), 1802-1808, 2016 | 43 | 2016 |
| De novo truncating mutations in WASF1 cause intellectual disability with seizures Y Ito, KJ Carss, ST Duarte, T Hartley, B Keren, MA Kurian, I Marey, ... The American Journal of Human Genetics 103 (1), 144-153, 2018 | 38 | 2018 |
| Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy MH Tan, DS Mackay, J Cowing, HV Tran, AJ Smith, GA Wright, ... PloS one 7 (3), e32330, 2012 | 38 | 2012 |
| Clinical characterization of CNGB1-related autosomal recessive retinitis pigmentosa S Hull, M Attanasio, G Arno, K Carss, AG Robson, DA Thompson, ... JAMA ophthalmology 135 (2), 137-144, 2017 | 34 | 2017 |
Anthony MooreUCL Institute of OphthalmologyVerified email at ucsf.edu
