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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.
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.
American Journal of Medical Genetics. Part A|January 19, 2010
Survival of Texas infants born with trisomies 21, 18, and 13Catherine Vendola, Mark Canfield, Stephen P Daiger, et al.
Investigative Ophthalmology & Visual Science|October 26, 2011
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophyJin Song, Nizar Smaoui, Radha Ayyagari, et al.
Investigative Ophthalmology & Visual Science|May 26, 2006
Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGECatherine Bowes Rickman, Jessica N Ebright, Zachary J Zavodni, 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.
Molecular Vision|July 27, 2007
A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophyLori S Sullivan, Eric B Baylin, Ramon Font, et al.
Investigative Ophthalmology & Visual Science|February 5, 2016
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as ModifiersSuma P Shankar, Dianna K Hughbanks-Wheaton, David G Birch, 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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