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Meeting Abstract (11)
Journal Articles (3)

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Investigative Ophthalmology & Visual Science (14)

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ARVO Annual Meeting Abstract (11)
Clinical and Epidemiologic Research (1)
Genetics (1)
Multidisciplinary Ophthalmic Imaging (1)

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Genetics (2)
Clinical and Epidemiologic Research (1)
Eye Anatomy and Disorders (1)
Imaging (1)
Multidisciplinary Ophthalmic Imaging (1)
Retina (1)
Retinal Imaging (1)

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eye (2)
retinitis pigmentosa (2)
adult (1)
atypical (1)
bioinformatics (1)
child (1)
color (1)
diagnostic imaging (1)
dideoxy chain termination dna sequencing (1)
dna (1)

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Multidisciplinary Ophthalmic Imaging July 2022

Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging

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Tao Liu; Nancy Aguilera; Andrew J. Bower; Joanne Li; Ehsan Ullah; Alfredo Dubra; Catherine Cukras; Brian P. Brooks; Brett G. Jeffrey; Robert B. Hufnagel; Laryssa A. Huryn; Wadih M. Zein; Johnny Tam
TAGS: diagnostic imaging, eye, retinal cone, vitelliform dystrophy, optics, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2022; 63(8):27. doi: https://doi.org/10.1167/iovs.63.8.27

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

A common haplotype in the PRPH2 gene modifies Stargardt/ABCA4 disease.

Jana Zernant; Winston Lee; Jun Wang; KERRY GOETZ; Ehsan Ullah; Takayuki Nagasaki; PEI-YIN SU; Gerald A Fishman; Stephen H Tsang; Santa J Tumminia; Brian Brooks; Robert B Hufnagel; Rui Chen; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1596 – A0385. doi:

ARVO Annual Meeting Abstract June 2021

Clinical and Molecular Findings in a CDHR1 Retinal Dystrophy Cohort

Volha Malechka; Catherine A Cukras; Emily Y Chew; Delphine Blain; Brett G Jeffrey; Ehsan Ullah; Robert B Hufnagel; Brian Patrick Brooks; Laryssa A Huryn; Wadih M Zein

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3219. doi:

ARVO Annual Meeting Abstract June 2021

Evaluation of founder effect burden on recurrent variants in X-linked retinoschisis

Chelsea Bender; Ehsan Ullah; Amy Turriff; Santa J Tumminia; Paul A Sieving; Catherine A Cukras; Robert B Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1576. doi:

ARVO Annual Meeting Abstract June 2021

Genetic testing yield among patients with suspected primary heritable optic atrophy

Maureen C Farrell; Celeste D’Amanda; Ehsan Ullah; Bin Guan; Delphine Blain; Amy Turriff; Wai T Wong; Catherine A Cukras; Steven F Stasheff; Edmond J FitzGibbon; Wadih M Zein; Brian P Brooks; Laryssa A Huryn; Robert B Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1553. doi:

Clinical and Epidemiologic Research October 2020

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults

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Malena Daich Varela; Ehsan Ullah; Sairah Yousaf; Brian P. Brooks; Robert B. Hufnagel; Laryssa A. Huryn
TAGS: adult, atypical, child, color, mutation, phenotype, eye, pathologic nystagmus, electroretinography, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2020; 61(12):1. doi: https://doi.org/10.1167/iovs.61.12.1

Includes: Supplemental Content

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. doi:

ARVO Annual Meeting Abstract June 2020

Elucidating the genotypic spectrum of nanophthalmos and high hyperopia

Lev Prasov; Bin Guan; Ehsan Ullah; Sayoko Eileen Moroi; Steven M Archer; Laurel Wiinikka-Buesser; Christine A. Rygiel; Sarah J. Garnai; Jasmine Serpen; Laryssa Huryn; Hemant Pawar; Brian Brooks; Julia E. richards; Robert Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1251. doi:

ARVO Annual Meeting Abstract June 2020

Haplotype characterization of a large X-linked retinoschisis cohort

Chelsea Bender; Ehsan Ullah; Amy Turriff; Santa Tumminia; Paul A Sieving; Catherine A Cukras; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2395. doi:

ARVO Annual Meeting Abstract June 2020

Genotype-phenotype associations in a large PRPH2 -related retinopathy cohort

Melissa Reeves; Kerry Goetz; Bin Guan; Ehsan Ullah; Delphine Blain; Wadih Zein; Santa Tumminia; Robert Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2421. doi:

ARVO Annual Meeting Abstract June 2020

Visual Acuity in a Large USH2A Cohort

Rosalie Nolen; Robert Hufnagel; Amy Turriff; Thomas Friedman; Ehsan Ullah; Laryssa Huryn; Catherine Cukras; Brett Jeffrey; Ekaterini Tsilou; Brian Brooks; Wadih Zein

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3021. doi:

ARVO Annual Meeting Abstract July 2019

Multimodal genomic analysis of hydroxychloroquine toxicity in a large cohort

Ehsan Ullah; David McGaughey; Amy Turriff; Paul A Sieving; Robert B Hufnagel; Catherine A Cukras

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6054. doi:

Genetics September 2018

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

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Zahid Latif; Imen Chakchouk; Isabelle Schrauwen; Kwanghyuk Lee; Regie Lyn P. Santos-Cortez; Izoduwa Abbe; Anushree Acharya; Afeefa Jarral; Imran Ali; Ehsan Ullah; Muhammad Nasim Khan; Ghazanfar Ali; Tufail Hussain Tahir; Michael J. Bamshad; Deborah A. Nickerson; Wasim Ahmad; Muhammad Ansar; Suzanne M. Leal
TAGS: family, genes, genetic linkage analysis, homozygote, retinitis pigmentosa, dideoxy chain termination dna sequencing, dna, bioinformatics, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4552-4557. doi: https://doi.org/10.1167/iovs.18-23849

ARVO Annual Meeting Abstract April 2014

Homozygosity Mapping and Disease Genes Screening in Pakistani Families with Inherited Retinal Dystrophies

Muhammad Arif Nadeem Saqib; Ehsan Ullah; Falak Sher Khan; Giulia Venturini; Konstantinos Nikopoulos; Muhammad Ansar; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3292. doi:

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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