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Molecular Vision|August 2, 2017
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended familiesKaylie D Jones, Dianna K Wheaton, Sara J Bowne, et al.
Molecular Vision|May 30, 2008
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosaSara J Bowne, Lori S Sullivan, Anisa I Gire, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetranceLinda Köhn, Sara J Bowne, Lori S Sullivan, et al.
Advances in Experimental Medicine and Biology|March 19, 2010
Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosaStephen P Daiger, Lori S Sullivan, Sara J Bowne, et al.
Molecular Vision|November 6, 2007
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosaAnisa I Gire, Lori S Sullivan, Sara J Bowne, et al.
Translational Vision Science & Technology|June 9, 2023
Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert PanelDavid G Birch, Janet K Cheetham, Stephen P Daiger, et al.
Investigative Ophthalmology & Visual Science|August 29, 2006
Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?Sara J Bowne, Qin Liu, Lori S Sullivan, et al.
Plos One|August 23, 2011
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutationsAbigail T Fahim, Sara J Bowne, Lori S Sullivan, et al.
Ophthalmic Surgery, Lasers & Imaging Retina|June 22, 2016
Multimodal Imaging in Wagner SyndromeAkshay S Thomas, Kari Branham, Russell N Van Gelder, et al.
JAMA Ophthalmology|February 13, 2015
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal DystrophiesSuma P Shankar, David G Birch, Richard S Ruiz, et al.
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