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Cold Spring Harbor Molecular Case Studies|November 14, 2022
Identification of a novel large multigene deletion and a frameshift indel in <i>PDE6B</i> as the underlying cause of early-onset recessive rod-cone degenerationRiccardo Sangermano, Pooja Biswas, Lori S Sullivan, et al.
Investigative Ophthalmology & Visual Science|August 17, 2013
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosaLori S Sullivan, Sara J Bowne, Melissa J Reeves, et al.
Human Molecular Genetics|March 5, 2002
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosaSara J Bowne, Lori S Sullivan, Susan H Blanton, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 16, 2011
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7Yuquan Wen, Kirsten G Locke, Martin Klein, et al.
BMC Bioinformatics|March 4, 2017
SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing dataYong Chen, Li Zhao, Yi Wang, et al.
Human Molecular Genetics|October 11, 2002
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1Dayna T Akey, Xuemei Zhu, Michael Dyer, et al.
Translational Vision Science & Technology|December 17, 2024
Inherited Retinal Degenerations and Non-Neovascular Age-Related Macular Degeneration: Progress and Unmet NeedsJacque L Duncan, Angela Bowman, Amy Laster, et al.
Investigative Ophthalmology & Visual Science|September 28, 2006
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosaLori S Sullivan, Sara J Bowne, C Robyn Seaman, et al.
Investigative Ophthalmology & Visual Science|January 5, 2002
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptorsQin Liu, Jie Zhou, Stephen P Daiger, et al.
Investigative Ophthalmology & Visual Science|February 2, 2013
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaJennifer D Churchill, Sara J Bowne, Lori S Sullivan, et al.
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