Concepedia

Kaylie Webb-Jones

KW

Statistics

Publications

13

Citations

453

H-Index

12

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

Baylor College of Medicine

Kaylie Webb-Jones is an author at Retina Foundation of the Southwest specializing in human genetics, genetics, and genetic disorders.

ORCID

Publications per year

2014–2025

13

Publications

13

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

, , +16

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 · 69 citations · Full text

, , +17

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 · 55 citations · Full text

, , +12

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 · 52 citations

, , +14

A Novel Dominant Mutation in <i>SAG</i> , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

Lori S. Sullivan, Sara J. Bowne, Daniel C. Koboldt et al. · Investigative Ophthalmology & Visual Science · 2017 · 40 citations · Full text

, , +13

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