Publications by authors named "Kaylie D Jones"

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Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.
Xinye Qian, Jun Wang, Meng Wang, Austin D Igelman, Kaylie D Jones

Front Genet· March 2021

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A novel SVA retrotransposon insertion in the gene results in loss of REP-1 causing choroideremia.
Kaylie D Jones, Alina Radziwon, David G Birch, Ian M MacDonald

Ophthalmic Genet· August 2020

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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, Kaylie D Jones, Dianna K H Wheaton

Ophthalmol Retina· May 2020

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Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).
Stephen P Daiger, Sara J Bowne, Lori S Sullivan, Kari Branham, Dianna K Wheaton, Kaylie D Jones

Adv Exp Med Biol· May 2019

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Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Kaylie D Jones, Dianna K Wheaton, Sara J Bowne, Lori S Sullivan, David G Birch

Mol Vis· April 2018

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North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the gene.
Sara J Bowne, Lori S Sullivan, Dianna K Wheaton, Kirsten G Locke, Kaylie D Jones

Mol Vis· January 2018

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A Novel Dominant Mutation in SAG, 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, Elizabeth L Cadena, John R Heckenlively, Kaylie D Jones

Invest Ophthalmol Vis Sci· May 2017

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