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Meeting Abstract (8)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (10)

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ARVO Annual Meeting Abstract (8)
Biochemistry and Molecular Biology (1)
Genetics (1)

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Biochemistry and Molecular Biology (2)
Genetics (2)
Visual Psychophysics and Physiological Optics (1)

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cohort studies (1)
dna (1)
embryo (1)
eye (1)
family (1)
fissure (1)
genes (1)
mice (1)
mutation (1)
optics (1)

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Genetics November 2022

Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure

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Elangovan Boobalan; Amy H. Thompson; Ramakrishna P. Alur; David M. McGaughey; Lijin Dong; Grace Shih; Emile R. Vieta-Ferrer; Ighovie F. Onojafe; Vijay K. Kalaskar; Gavin Arno; Andrew J. Lotery; Bin Guan; Chelsea Bender; Omar Memon; Lauren Brinster; Clement Soleilhavoup; Lia Panman; Tudor C. Badea; Andrea Minella; Antonio Jacobo Lopez; Sara M. Thomasy; Ala Moshiri; Delphine Blain; Robert B. Hufnagel; Tiziana Cogliati; Kapil Bharti; Brian P. Brooks
TAGS: embryo, fissure, mice, optics, eye, transcription factor
Invest. Ophthalmol. Vis. Sci.. 2022; 63(12):5. doi: https://doi.org/10.1167/iovs.63.12.5

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

Golden-yellow fundus reflex and OCT hyper-reflectivity in RPGR retinopathy

Matthew Benson; Aime Agather; Delphine Blain; Robert B Hufnagel; Brian Patrick Brooks; Laryssa Huryn; Wadih M Zein; Catherine A Cukras

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4490 – F0277. doi:

ARVO Annual Meeting Abstract June 2022

Seeing in Color: Inclusion and Characterization of African Americans in Hereditary Eye Disease Research

Agnes C Ezekwesili; Raisa Ionin; Laryssa Huryn; Catherine A Cukras; Delphine Blain; Aime Agather; Robert B Hufnagel; Brian Patrick Brooks; Wadih M Zein

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):501 – A0078. 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:

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 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 July 2018

Beyond SNVs: comprehensive cohort-level analytics of 100 samples from the eyeGENE® program

Robert B Hufnagel; Bin Guan; David McGaughey; Melissa Reeves; Wadih Zein; Keith Wetherby; Delphine Blain; Amy Turriff; Brian P Brooks; Santa Tumminia

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2340. doi:

ARVO Annual Meeting Abstract June 2015

eyeGENE ® : a cross-cutting international inherited eye disease clinical research network

Santa J Tumminia; Delphine Blain; Remy C Cooper; Alexandra V Garafalo; Jemma Iano-Fletcher; Rebecca S Parrish; Melissa J Reeves; Annette Yim; Kerry E Goetz

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1250. doi:

Biochemistry and Molecular Biology September 2013

Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa

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Lori S. Sullivan; Sara J. Bowne; Melissa J. Reeves; Delphine Blain; Kerry Goetz; Vida NDifor; Sally Vitez; Xinjing Wang; Santa J. Tumminia; Stephen P. Daiger
TAGS: mutation, proband, retinitis pigmentosa, prevalence, family, genes, cohort studies, dna
Invest. Ophthalmol. Vis. Sci.. 2013; 54(9):6255-6261. doi: https://doi.org/10.1167/iovs.13-12605

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Prevalence of Mutations in eyeGENE® Probands With Autosomal Dominant Retinitis Pigmentosa or Inherited Maculopathy

Lori S. Sullivan; Sara J. Bowne; Delphine Blain; Kerry Goetz; Vida Ndifor; Melissa Reeves; Sally Vitez; Santa J. Tumminia; Stephen P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4546. doi:

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Online ISSN: 1552-5783

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

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