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Science Advances|September 7, 2022
Mutations in <i>BCOR</i>, a co-repressor of <i>CRX/OTX2</i>, are associated with early-onset retinal degenerationMaéva Langouët, Christine Jolicoeur, Awais Javed, et al.
Investigative Ophthalmology & Visual Science|June 27, 2006
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesLori S Sullivan, Sara J Bowne, David G Birch, et al.
Human Mutation|March 10, 2022
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A studyRobert B Hufnagel, Wendi Liang, Jacque L Duncan, et al.
Investigative Ophthalmology & Visual Science|May 27, 2017
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United StatesLori S Sullivan, Sara J Bowne, Daniel C Koboldt, et al.
European Journal of Human Genetics : EJHG|June 10, 2011
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvementSara J Bowne, Marian M Humphries, Lori S Sullivan, et al.
Investigative Ophthalmology & Visual Science|September 6, 2014
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosaLori S Sullivan, Daniel C Koboldt, Sara J Bowne, et al.
Investigative Ophthalmology & Visual Science|February 5, 2025
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene PollKari Branham, Lassana Samarakoon, Isabelle Audo, et al.
American Journal of Human Genetics|May 11, 2020
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyBenjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, et al.
American Journal of Human Genetics|June 13, 2009
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaJames S Friedman, Joseph W Ray, Naushin Waseem, et al.
Human Genetics|October 25, 2013
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinementsFeng Wang, Hui Wang, Han-Fang Tuan, et al.
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