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Investigative Ophthalmology & Visual Science|July 29, 2003
Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS geneShahrokh C Khani, Athanasios J Karoukis, Joyce E Young, et al.
Plos One|March 11, 2016
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaSamuel P Strom, Michael J Clark, Ariadna Martinez, et al.
Advances in Experimental Medicine and Biology|May 4, 2018
Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP)Stephen P Daiger, Sara J Bowne, Lori S Sullivan, et al.
American Journal of Ophthalmology|October 11, 2005
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 genePetra Kozma, Dianna K Hughbanks-Wheaton, Kirsten G Locke, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 18, 2002
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) geneJiangang Gao, Kyeongmi Cheon, Steven Nusinowitz, et al.
Molecular Genetics and Metabolism Reports|November 23, 2016
Diagnosis of a mild peroxisomal phenotype with next-generation sequencingMeredith J Ventura, Dianna Wheaton, Mingchu Xu, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|August 7, 2009
Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosaTetsuji Yamashita, Jiewu Liu, Jiangang Gao, et al.
Molecular Vision|October 26, 2016
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the <i>PRDM13</i> geneSara J Bowne, Lori S Sullivan, Dianna K Wheaton, et al.
Investigative Ophthalmology & Visual Science|December 31, 2005
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosisSara J Bowne, Lori S Sullivan, Sarah E Mortimer, et al.
American Journal of Human Genetics|November 3, 2009
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAsChen Zhao, Deepti L Bellur, Shasha Lu, et al.
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