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ARVO Annual Meeting Abstract June 2022

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Kim C. Worley; Kristy Lee; Radha Ayyagari; Michael E Cheetham; Elfride De Baere; KERRY GOETZ; Robert K Koenekoop; Linyan Meng; MAXENCE NACHURY; Paul A Sieving; Lori S Sullivan; Christina Zeitz; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):624 – A0339. doi:

ARVO Annual Meeting Abstract June 2022

Optimizing Variant Curation Guidelines to Improve Clinical Genetic Testing for RPE65 Retinopathies Utilizing the ClinGen Framework

Kristy Lee; Justyne Ross; William Hankey; Andrew R Webster; Lori S Sullivan; Jacque L Duncan; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2834 – A0350. doi:

ARVO Annual Meeting Abstract June 2022

A rare variant in ZBED1 , a gene from the pseudoautosomal region of the X and Y chromosomes, is a likely cause of dominant retinitis pigmentosa in several large families.

Lori S Sullivan; Elizabeth Cadena; Sara Bowne; Kinga Maria Bujakowska; Egle Galdikaite-Braziene; Emily Place; Eric A Pierce; Radha Ayyagari; Daniel Koboldt; David G Birch; Kaylie Jones; Kari Branham; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4120 – F0357. 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 July 2018

A novel mutation in KIF3B in a family with dominant retinitis pigmentosa and polydactyly

Stephen P Daiger; Lori S Sullivan; Sara J Bowne; Elizabeth L Cadena; Kinga Maria Bujakowska; Eric A Pierce; Michael B Gorin; Xénia Latypova; Erica E Davis; Nicholas Katsanis; Ludovic Martin; Laurence Legeai-Mallet; Benjamin Cogne; Stéphane Bezieau; Thomas Besnard; Bertrand Isidor

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):47. doi:

ARVO Annual Meeting Abstract July 2018

Molecular defects of the disease-causing human arrestin-1 C147F mutant

Sergey Vishnivetskiy; Lori S Sullivan; Sara J Bowne; Stephen P Daiger; Eugenia Gurevich; Vsevolod V Gurevich

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3062. doi:

Biochemistry and Molecular Biology January 2018

Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant

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Sergey A. Vishnivetskiy; Lori S. Sullivan; Sara J. Bowne; Stephen P. Daiger; Eugenia V. Gurevich; Vsevolod V. Gurevich
TAGS: arrestin, proteins
Invest. Ophthalmol. Vis. Sci.. 2018; 59(1):13-20. doi: https://doi.org/10.1167/iovs.17-22180

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

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

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:

Biochemistry and Molecular Biology May 2017

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

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Lori S. Sullivan; Sara J. Bowne; Daniel C. Koboldt; Elizabeth L. Cadena; John R. Heckenlively; Kari E. Branham; Dianna H. Wheaton; Kaylie D. Jones; Richard S. Ruiz; Mark E. Pennesi; Paul Yang; David Davis-Boozer; Hope Northrup; Vsevold V. Gurevich; Rui Chen; Mingchu Xu; Yumei Li; David G. Birch; Stephen P. Daiger
TAGS: arrestin, family, genes, mutation, retinitis pigmentosa, hispanics or latinos
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2774-2784. doi: https://doi.org/10.1167/iovs.16-21341

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

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 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:

Genetics February 2016

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

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Suma P. Shankar; Dianna K. Hughbanks-Wheaton; David G. Birch; Lori S. Sullivan; Karen N. Conneely; Sara J. Bowne; Edwin M. Stone; Stephen P. Daiger
TAGS: genes, haplotypes, phenotype, proteins, visual fields, visual acuity, electrophysiology
Invest. Ophthalmol. Vis. Sci.. 2016; 57(2):349-359. doi: https://doi.org/10.1167/iovs.15-16965

Includes: Supplemental Content

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:

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

Disease-causing mutations in a cohort of autosomal dominant RP (adRP) families without detectable mutations in known adRP genes

Lori S Sullivan; Sara J Bowne; Susan H. Blanton; Daniel C. Koboldt; Richard K. Wilson; Rui Chen; Feng Wang; Dianna K H Wheaton; David G Birch; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2875. 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

Includes: Supplemental Content

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ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Optimizing Variant Curation Guidelines to Improve Clinical Genetic Testing for RPE65 Retinopathies Utilizing the ClinGen Framework

A rare variant in ZBED1 , a gene from the pseudoautosomal region of the X and Y chromosomes, is a likely cause of dominant retinitis pigmentosa in several large families.

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

A novel mutation in KIF3B in a family with dominant retinitis pigmentosa and polydactyly

Molecular defects of the disease-causing human arrestin-1 C147F mutant

Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant

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

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

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

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

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

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

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

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

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

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

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

Disease-causing mutations in a cohort of autosomal dominant RP (adRP) families without detectable mutations in known adRP genes

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

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