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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 PDE6B 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.
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.
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.
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.
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.
Investigative Ophthalmology & Visual Science|July 29, 2003
Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS geneShahrokh C Khani, Athanasios J Karoukis, Joyce E Young, et al.
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