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ARVO Annual Meeting Abstract June 2024

Decline of visual function and risk of legal blindness with age in patients with RPGR-associated retinal degeneration, a multicenter study

Bela Parekh; Joshua D Stein; Rehbi Abuzaitoun; Kari E Branham; Chris Andrews; Dejan Milentijevic; Divya Narayanan; Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3112.

ARVO Annual Meeting Abstract June 2024

Using artificial intelligence (AI) to identify and characterize RPGR patients in a large electronic health record (EHR) database

Thiran Jayasundera; Kari E. Branham; Dejan Milentijevic; Jinghua He; Alicia K. Campbell; Chris Andrews; Joshua D Stein

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3739.

ARVO Annual Meeting Abstract June 2024

The patient journey from early symptoms to initial diagnosis of RPGR -associated retinal disease: Can we shorten time to first diagnosis in a gene therapy era?

Kari E Branham; Chris Andrews; Joshua D Stein; Dejan Milentijevic; Divya Narayanan; Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3110.

ARVO Annual Meeting Abstract June 2024

Comparison of Central Field Stimulus Threshold with Full Field Stimulus Threshold

Naheed Khan; Mariam Khan; Yunshu Zhou; Abigail Fahim; Kari E. Branham; Dana Schlegel; Thiran Jayasundera; Cagri Besirli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5391.

ARVO Annual Meeting Abstract June 2024

Clinical Features and Interocular Symmetry in a Cohort of Choroideremia Carriers

Sarah J Garnai; Kari E Branham; Abigail Fahim

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6043.

ARVO Annual Meeting Abstract June 2023

Medical Comorbidities and Severe Visual Impairment in Real-World Patients With Inherited Retinal Diseases

Kari E Branham; K. Thiran Jayasundera; Dejan Milentijevic; Jinghua He; Alicia Campbell; Chris A. Andrews; Joshua D Stein

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5440.

Genetics June 2021

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

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Mariana Matioli da Palma; Austin D. Igelman; Cristy Ku; Amanda Burr; Jia Yue You; Emily M. Place; Nan-Kai Wang; Jin Kyun Oh; Kari E. Branham; Xinxin Zhang; Jeeyun Ahn; Michael B. Gorin; Byron L. Lam; Cecinio C. Ronquillo; Paul S. Bernstein; Aaron Nagiel; Rachel Huckfeldt; Michelle T. Cabrera; John P. Kelly; Benjamin Bakall; Alessandro Iannaccone; Robert B. Hufnagel; Wadih M. Zein; Robert K. Koenekoop; David G. Birch; Paul Yang; Abigail T. Fahim; Mark E. Pennesi
TAGS: arteriohepatic dysplasia, eye
Invest. Ophthalmol. Vis. Sci.. 2021; 62(7):27. https://doi.org/10.1167/iovs.62.7.27

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Factors Affecting Rates of Genetic Testing for Inherited Retinal Degenerations

Peter Yu Cheng Zhao; Kari E Branham; Dana Schlegel; Abigail T Fahim; Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):162.

ARVO Annual Meeting Abstract June 2020

RUSH2A: systematic cohort variant modeling reveals phenotypic correlates

Robert B. Hufnagel; Bin Guan; Ehsan Ullah; Wendi Liang; Carmen Brewer; Stephen P Daiger; Kari E Branham; Jacque L Duncan

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):836.

ARVO Annual Meeting Abstract June 2020

Adherence and Satisfaction in Argus II Prosthesis Users: A Self Determination Theory Model

Mariam Khan; Kari E Branham; Thiran Jayasundera; Naheed W Khan

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):928.

Review June 2020

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

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Debra A. Thompson; Alessandro Iannaccone; Robin R. Ali; Vadim Y. Arshavsky; Isabelle Audo; James W. B. Bainbridge; Cagri G. Besirli; David G. Birch; Kari E. Branham; Artur V. Cideciyan; Steven P. Daiger; Deniz Dalkara; Jacque L. Duncan; Abigail T. Fahim; John G. Flannery; Roberto Gattegna; John R. Heckenlively; Elise Heon; K. Thiran Jayasundera; Naheed W. Khan; Henry Klassen; Bart P. Leroy; Robert S. Molday; David C. Musch; Mark E. Pennesi; Simon M. Petersen-Jones; Eric A. Pierce; Rajesh C. Rao; Thomas A. Reh; Jose A. Sahel; Dror Sharon; Paul A. Sieving; Enrica Strettoi; Paul Yang; David N. Zacks; The Monaciano Consortium
TAGS: outcome measures, retinal diseases, surrogate endpoints, genetics, vision, natural history, ethics, gene therapy
Trans. Vis. Sci. Tech.. 2020; 9(7):2. https://doi.org/10.1167/tvst.9.7.2

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.

ARVO Annual Meeting Abstract July 2018

The journey from clinical to genetic diagnosis in Stargardt disease

Dana Schlegel; Kari E Branham; John R Heckenlively; Abigail T Fahim; Thiran Jayaundera

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1433.

ARVO Annual Meeting Abstract July 2018

Deciphering the genetic architecture of IRD by integrated analysis of 425 whole genomes

Radha Ayyagari; Pooja Biswas; Angel Soto Hermida; Kari E Branham; Hiroko Matsui; Adda L Villanueva; Amalio Talenti; Akhila Alapati; Aditya Ayyagari Guru; Bonnie Huang; Sheikh Riazuddin; John Heckenlively; Paul Sieving; Jacque L Duncan; S Amer Riazuddin; Kelly A. Frazer

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4468.

ARVO Annual Meeting Abstract July 2018

Genetic Testing Adds Research and Clinical Value to a Retinal Degeneration Registry

Kari E Branham; Joan Fisher; Karmen Trzupek; David G Birch; Jacque L Duncan; Stephen P Daiger; Brian C Mansfield

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4472.

ARVO Annual Meeting Abstract June 2017

Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing

Kari E Branham; Pooja Biswas; Luis Alexandre Rassi Gabriel; Angel Soto-Hermida; Hiroko Matsui; Amalio Telenti; Kelly A Frazer; John R Heckenlively; Paul A Sieving; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2754.

ARVO Annual Meeting Abstract June 2017

Peripheral pigmented lesions in Stargardt disease

Maria Fernanda Abalem; Peter Yu Cheng Zhao; Daniel Nadelman; Cynthia Xin-Ya Qian; Kari E Branham; Dana Schlegel; Naheed Wali Khan; John R Heckenlively; Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3262.

ARVO Annual Meeting Abstract June 2017

Importance of Checking for Active Autoimmunity in Genetically-Confirmed Retinal Dystrophy Patients

Steven K Lundy; Athanasios J Karoukis; Ray Ohara; Enayat Nikoopour; Mohammad I Othman; Maria Fernanda Abalem; Thiran Jayasundera; Kari E Branham; John R Heckenlively

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):556.

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

PDF

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. https://doi.org/10.1167/iovs.16-21341

ARVO Annual Meeting Abstract September 2016

Characteristics of 3’ORF15 mutations in RPGR

Kari E Branham; Naheed W Khan; Dana Schlegel; Kanishka Thiran Jayasundera; John R Heckenlively

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

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Decline of visual function and risk of legal blindness with age in patients with RPGR-associated retinal degeneration, a multicenter study

Using artificial intelligence (AI) to identify and characterize RPGR patients in a large electronic health record (EHR) database

The patient journey from early symptoms to initial diagnosis of RPGR -associated retinal disease: Can we shorten time to first diagnosis in a gene therapy era?

Comparison of Central Field Stimulus Threshold with Full Field Stimulus Threshold

Clinical Features and Interocular Symmetry in a Cohort of Choroideremia Carriers

Medical Comorbidities and Severe Visual Impairment in Real-World Patients With Inherited Retinal Diseases

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

Factors Affecting Rates of Genetic Testing for Inherited Retinal Degenerations

RUSH2A: systematic cohort variant modeling reveals phenotypic correlates

Adherence and Satisfaction in Argus II Prosthesis Users: A Self Determination Theory Model

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

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

The journey from clinical to genetic diagnosis in Stargardt disease

Deciphering the genetic architecture of IRD by integrated analysis of 425 whole genomes

Genetic Testing Adds Research and Clinical Value to a Retinal Degeneration Registry

Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing

Peripheral pigmented lesions in Stargardt disease

Importance of Checking for Active Autoimmunity in Genetically-Confirmed Retinal Dystrophy Patients

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

Characteristics of 3’ORF15 mutations in RPGR

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