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ARVO Annual Meeting Abstract July 2019

A novel SVA retrotransposon insertion in CHM results in loss of REP-1 protein causing choroideremia

Kaylie Webb-Jones; alina radziwon; David G Birch; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):412. doi:

ARVO Annual Meeting Abstract July 2019

X-Chromosome Inactivation is a Biomarker of Clinical Severity in Female Carriers of X-linked Retinitis Pigmentosa

Abigail T Fahim; Lori S Sullivan; Sara J Bowne; Kaylie Webb-Jones; Dianna K.H. Wheaton; Kari E Branham; Mohammad Othman; Athanasios J Karoukis; Chris Andrews; John R Heckenlively; David G Birch; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2961. doi:

ARVO Annual Meeting Abstract June 2017

An ancestral mutation in SAG (S-antigen visual arrestin-1) is a common cause of autosomal dominant retinitis pigmentosa in Hispanics

Lori S Sullivan; Sara J Bowne; Kaylie Webb-Jones; John R Heckenlively; Daniel C. Koboldt; Yumei Li; Rui Chen; Vsevolod Gurevich; David G Birch; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2763. doi:

ARVO Annual Meeting Abstract June 2017

EZ Width Reflects Disease Severity in adRP Patients with PRPF31 Gene Mutations

Kaylie Webb-Jones; Martin Klein; Sara J Bowne; Lori S Sullivan; Stephen P Daiger; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3216. doi:

ARVO Annual Meeting Abstract June 2017

SAG (S-antigen visual arrestin-1) mutations cause autosomal dominant retinitis pigmentosa (adRP) without the Oguchi disease phenotype

David G Birch; Kaylie Webb-Jones; Martin Klein; Rui Chen; Lori S Sullivan; Sara J Bowne; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3234. doi:

ARVO Annual Meeting Abstract September 2016

Retinal Targeted-Capture Next Generation Sequencing and CLIA Confirmation in Patients with a Range of Inherited Retinal Degeneration

Stephen P Daiger; Sara J Bowne; Lori S Sullivan; Kaylie D Webb-Jones; David G Birch; Cheryl Elizabeth Avery; Feng Wang; Rui Chen; Dianna K H Wheaton

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

ARVO Annual Meeting Abstract September 2016

A tandem duplication of PRDM13 in a family with North Carolina Macular Dystrophy (MCRD1)

Lori S Sullivan; Sara J Bowne; Daniel C. Koboldt; Robert S Fulton; Kirsten G Locke; Kaylie D Webb-Jones; Dianna K H Wheaton; Richard K Wilson; David G Birch; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3132. doi:

ARVO Annual Meeting Abstract September 2016

Complex Multi-Allelic Inherited Retinal Dystrophy: Multiple Genes Contributing Independently and Concurrently in Extended Families

Dianna K H Wheaton; Kaylie D Webb-Jones; Sara J Bowne; Lori S Sullivan; Rui Chen; Stephen P Daiger; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3135. doi:

ARVO Annual Meeting Abstract June 2015

Retinal Targeted-Capture Next Generation Sequencing and CLIA Confirmation in a Representative Range of Patients with Inherited Retinal Degeneration

Sara J Bowne; Lori S Sullivan; Dianna K H Wheaton; Kaylie Webb-Jones; David G Birch; Cheryl Avery; Feng Wang; Rui Chen; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1241. doi:

ARVO Annual Meeting Abstract June 2015

Identification of mutations in three retinal dystrophy genes within a single family: PRPF8, PRPH2 and USH2A

Kaylie Webb-Jones; Sara J Bowne; Lori S Sullivan; Stephen P Daiger; Feng Wang; Rui Chen; David G Birch; Dianna K H Wheaton

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2887. doi:

ARVO Annual Meeting Abstract June 2015

Severe Early-onset LCA-like Retinal Dystrophy due to Compound Heterozygous PRPH2 Mutations

Dianna K H Wheaton; Kaylie Webb-Jones; Sara J Bowne; Lori S Sullivan; Stephen P Daiger; Rui Chen; Joost Felius; David G Birch; Lori Dao; Angela M Scheuerle

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2890. doi:

Genetics November 2014

A Dominant Mutation in Hexokinase 1 ( HK1 ) Causes Retinitis Pigmentosa

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Lori S. Sullivan; Daniel C. Koboldt; Sara J. Bowne; Steven Lang; Susan H. Blanton; Elizabeth Cadena; Cheryl E. Avery; Richard A. Lewis; Kaylie Webb-Jones; Dianna H. Wheaton; David G. Birch; Razck Coussa; Huanan Ren; Irma Lopez; Christina Chakarova; Robert K. Koenekoop; Charles A. Garcia; Robert S. Fulton; Richard K. Wilson; George M. Weinstock; Stephen P. Daiger
TAGS: genes, hexokinase, mutation, retinitis pigmentosa, family
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7147-7158. doi: https://doi.org/10.1167/iovs.14-15419

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