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Scientific Reports|August 27, 2015
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited RetinopathiesAvigail Beryozkin, Elia Shevah, Adva Kimchi, et al.Investigative Ophthalmology & Visual Science|October 1, 2010
IQCB1 mutations in patients with leber congenital amaurosisAlejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters, et al.Journal of Medical Genetics|July 13, 2013
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencingXia Wang, Hui Wang, Vincent Sun, et al.Nature Genetics|July 16, 2002
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndromeKirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.Human Gene Therapy|December 7, 2011
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of conceptAstra Dinculescu, Jackie Estreicher, Juan C Zenteno, et al.Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.American Journal of Human Genetics|January 14, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|April 29, 2006
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injectionSamuel G Jacobson, Gregory M Acland, Gustavo D Aguirre, et al.Human Molecular Genetics|November 5, 2005
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleDebra A Thompson, Andreas R Janecke, Jessica Lange, et al.Human Gene Therapy|March 23, 2013
Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012Marina O'Reilly, Donald B Kohn, Jeffrey Bartlett, et al.Pageof 57