Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A. Otto, Corinne Antignac, Toby W. Hurd et al.|Nature Genetics|2010Cited by 325
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutationsFrans P.M. Cremers, Rando Allikmets, Winston Lee et al.|Progress in Retinal and Eye Research|2020Cited by 311
Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndromeKinga M. Bujakowska, Eric A. Pierce, Qi Zhang et al.|Human Molecular Genetics|2014Cited by 160
Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration PhenotypeQin Liu, Eric A. Pierce, Rob W.J. Collin et al.|PLoS ONE|2012Cited by 29
CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoidsTess A. V. Afanasyeva, Rob W.J. Collin|Molecular Therapy — Methods & Clinical Development|2023Cited by 25