Concepedia
Statistics
Publications
12
Citations
429
H-Index
11
Active since
2014
Affiliations
Retina Foundation of the Southwest(Current)
The University of Texas Health Science Center at Houston
The University of Texas Southwestern Medical Center
University of Michigan
Kaylie Webb-Jones is an author at Retina Foundation of the Southwest specializing in medicine, ophthalmology, and pathology.
Top concepts
MedicineOphthalmologyGeneticsPathologyEpigeneticsCytogeneticsPathogenesisGene ExpressionCholangiopathiesClinical Genetics
Publications per year
2014–2025
A Dominant Mutation in Hexokinase 1 (<i>HK1</i>) Causes Retinitis Pigmentosa
Lori S. Sullivan, Daniel C. Koboldt, Sara J. Bowne et al. · Investigative Ophthalmology & Visual Science · 2014 · 71 citations · Full text
Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases
Xinye Qian, Jun Wang, Meng C. Wang et al. · Frontiers in Genetics · 2021 · 64 citations · Full text
X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa
Abigail T. Fahim, Lori S. Sullivan, Sara J. Bowne et al. · Ophthalmology Retina · 2019 · 53 citations · Full text
Female Carriers, Cytogenetics, Medicine +9
Single-base substitutions in the<i>CHM</i>promoter as a cause of choroideremia
Alina Radziwon, Gavin Arno, Dianna K. Wheaton et al. · Human Mutation · 2017 · 51 citations
Chm Promoter, Transcriptional Regulation, Ocular Disease +13
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the <i>PRDM13</i> gene.
Sara J. Bowne, Lori S. Sullivan, Dianna K. Wheaton et al. · PubMed · 2016 · 38 citations · Full text
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