Theo dõi
Andrew Webster
Andrew Webster
UCL Institute of Ophthalmology
Email được xác minh tại ucl.ac.uk
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
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
8792014
Seven new loci associated with age-related macular degeneration
Nature genetics 45 (4), 433-439, 2013
8572013
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
6151996
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
4132017
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
3972020
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
3682021
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
3412002
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
3192008
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
3052002
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
2891997
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
2781999
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
2781996
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
2582001
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
2482015
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
2441998
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
2242016
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
2172015
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
2162012
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
2122009
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
PLQ Stabej, Z Saihan, N Rangesh, HB Steele-Stallard, J Ambrose, ...
Journal of medical genetics 49 (1), 27-36, 2012
1942012
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