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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|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.
Ophthalmic Genetics|March 26, 2008
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathySuma P Shankar, John H Fingert, Valerio Carelli, 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.
Ophthalmology. Retina|January 19, 2020
X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis PigmentosaAbigail T Fahim, Lori S Sullivan, Sara J Bowne, et al.
American Journal of Human Genetics|May 11, 2010
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosaS Amer Riazuddin, Muhammad Iqbal, Yue Wang, et al.
Journal of Medical Genetics|May 22, 2016
Molecular findings from 537 individuals with inherited retinal diseaseJamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
Advances in Experimental Medicine and Biology|October 3, 2015
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)Stephen P Daiger, Lori S Sullivan, Sara J Bowne, et al.
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