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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.
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.
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.
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.
Molecular Vision|December 10, 2013
Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosaSara J Bowne, Lori S Sullivan, Cheryl E Avery, et al.
Advances in Experimental Medicine and Biology|March 26, 2014
Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP)Stephen P Daiger, Sara J Bowne, Lori S Sullivan, et al.
Molecular Vision|May 2, 2003
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) geneSara J Bowne, Stephen P Daiger, Kimberly A Malone, et al.
American Journal of Human Genetics|February 25, 2014
Exome-based mapping and variant prioritization for inherited Mendelian disordersDaniel C Koboldt, David E Larson, Lori S Sullivan, et al.
Investigative Ophthalmology & Visual Science|September 24, 2010
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencingSara J Bowne, Lori S Sullivan, Daniel C Koboldt, et al.
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