Concepedia

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

Laurence Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh Astuti, Alexey Obolensky, Avigail Beryozkin, Martha Tjon-Fo-Sang, J. Schuil, Caroline C. W. Klaver,

Ophthalmology · 2017 · 47 citations · 34 references

DOIFull text

Open access

Concepts

References

34

Prevalence of Retinitis Pigmentosa in Maine

Clareann H. Bunker, Eliot L. Berson, William Bromley et al. · American Journal of Ophthalmology · 1984 · 447 citations

, , +10

The epidemiology of retinitis pigmentosa in Denmark

Marianne Haim · Acta Ophthalmologica Scandinavica · 2002 · 270 citations · Full text

, , +11

Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss

Carlo Rivolta, Elizabeth A. Sweklo, Eliot L. Berson et al. · The American Journal of Human Genetics · 2000 · 259 citations · Full text

, , +13

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Susanne Kohl, Ditta Zobor, Wei‐Chieh Chiang et al. · Nature Genetics · 2015 · 216 citations

, , +14

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Robert K. Koenekoop, Hui Wang, Jacek Majewski et al. · Nature Genetics · 2012 · 205 citations

, , +16