Genevieve Wright

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Rosemary Burgess, I. D. Millar, Bart P. Leroy et al. · The American Journal of Human Genetics · 2008 · 307 citations · Full text

Ocular Disease, Ophthalmology, Genetic Disorder +7

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 Jurkutė et al. · Ophthalmology · 2020 · 244 citations · Full text

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 et al. · The American Journal of Human Genetics · 2009 · 199 citations · Full text

Genetic Disorder, Genetics, Recessive Mutations +4

Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

Kaoru Fujinami, Jana Zernant, Ravinder Chana et al. · Ophthalmology · 2014 · 184 citations · Full text