G
Genevieve A. Wright
Researcher at Moorfields Eye Hospital
Publications - 34
Citations - 1817
Genevieve A. Wright is an academic researcher from Moorfields Eye Hospital. The author has contributed to research in topics: Electroretinography & Retinitis pigmentosa. The author has an hindex of 16, co-authored 33 publications receiving 1426 citations. Previous affiliations of Genevieve A. Wright include University of Texas Health Science Center at Houston & UCL Institute of Ophthalmology.
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Journal ArticleDOI
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Keren J. Carss,Gavin Arno,M Erwood,J Stephens,Alba Sanchis-Juan,Sarah Hull,K Megy,D Grozeva,E Dewhurst,Samantha Malka,Vincent Plagnol,Christopher J. Penkett,K Stirrups,R Rizzo,Genevieve A. Wright,Dragana Josifova,Maria Bitner-Glindzicz,R H Scott,E Clement,Louise E. Allen,R Armstrong,A F Brady,J Carmichael,Manali Chitre,Henderson Rhh.,J Hurst,Robert E MacLaren,E Murphy,Joan Paterson,E Rosser,D A Thompson,E Wakeling,Willem H. Ouwehand,Michel Michaelides,Anthony T. Moore,Andrew R. Webster,F L Raymond +36 more
TL;DR: Findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing, whole-exomes sequencing, or both performed, are presented, as part of the NIHR-BioResource Rare Diseases research study.
Journal ArticleDOI
Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans
Rosemary Burgess,Rosemary Burgess,Ian D. Millar,Bart P. Leroy,Jill E. Urquhart,Jill E. Urquhart,Ian M. Fearon,Elfrida De Baere,Peter de Nully Brown,Anthony G. Robson,Anthony G. Robson,Genevieve A. Wright,Philippe Kestelyn,Graham E. Holder,Graham E. Holder,Andrew R. Webster,Andrew R. Webster,Forbes D C Manson,Forbes D C Manson,Forbes D C Manson,Graeme C.M. Black,Graeme C.M. Black,Graeme C.M. Black +22 more
TL;DR: A distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram is described.
Journal ArticleDOI
Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans
Zheng Li,Panagiotis I. Sergouniotis,Michel Michaelides,Michel Michaelides,Donna S. Mackay,Genevieve A. Wright,Sophie Devery,Anthony T. Moore,Anthony T. Moore,Graham E. Holder,Graham E. Holder,Anthony G. Robson,Anthony G. Robson,Andrew R. Webster,Andrew R. Webster +14 more
TL;DR: Analysis of a consanguineous family and screening of nine additional pedigrees suggests an important role of this specific cation channel for the normal function of ON bipolar cells in the human retina.
Journal ArticleDOI
Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease
Kaoru Fujinami,Jana Zernant,Ravinder K. Chana,Genevieve A. Wright,Genevieve A. Wright,Kazushige Tsunoda,Yoko Ozawa,Kazuo Tsubota,Anthony G. Robson,Anthony G. Robson,Graham E. Holder,Graham E. Holder,Rando Allikmets,Michel Michaelides,Michel Michaelides,Anthony T. Moore,Anthony T. Moore +16 more
TL;DR: Children with childhood-onset STGD are associated with severe visual loss, early morphologic changes, and often generalized retinal dysfunction, despite often having less severe fundus abnormalities on examination, as well as a relatively high proportion of deleterious ABCA4 variants.
Journal ArticleDOI
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Nikolas Pontikos,Gavin Arno,Neringa Jurkute,Elena R. Schiff,Rola Ba-Abbad,Samantha Malka,Ainoa Cordoba Gimenez,Michalis Georgiou,Genevieve A. Wright,Monica Armengol,HE Knight,Menachem Katz,Mariya Moosajee,Patrick Yu-Wai-Man,Anthony T. Moore,Michel Michaelides,Andrew R. Webster,Omar A. Mahroo +17 more
TL;DR: A large cohort of molecularly characterized inherited retinal disease (IRD) families was investigated, finding correlation between numbers of families and gene transcript length correlated significantly with numbers of affected families.