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Genetics February 2025

Genotype–Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes

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Fulya Yaylacıoğlu Tuncay; Melissa J. Reeves; Sairah Yousaf; Ehsan Ullah; Bin Guan; Kerry E. Goetz; Santa J. Tumminia; Robert B. Hufnagel
TAGS: cohort studies, familial exudative vitreoretinopathies, genes, genotype, phenotype, signal pathway, signal transduction pathways, proteins
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):9. https://doi.org/10.1167/iovs.66.2.9

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Harmonization of variants in the eyeGENE ® cohort for data sharing

Ranya Al Rawi; Kerry E. Goetz; Melissa Reeves; Amelia Naik; Nia Moore; Robert B Hufnagel; Bin Guan; Santa J. Tumminia

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2419.

ARVO Annual Meeting Abstract June 2023

Digital droplet PCR enables genotyping the red-green opsin array for clinical diagnostics

Amelia Naik; Bin Guan; Deena Elul; Edda Haggerty; Wadih M Zein; Cara Lwin; Zhiyu Li; Delphine Blain; Brian Patrick Brooks; Santa J Tumminia; David H Brainard; Geoffrey K Aguirre; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4534.

ARVO Annual Meeting Abstract June 2023

SpliceAI predicted pathogenic synonymous variants in inherited ophthalmic disease genes

Melissa Reeves; Bin Guan; Amelia Naik; Chelsea Bender; Nia Moore; Santa J Tumminia; Catherine Cukras; Robert Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4519.

ARVO Annual Meeting Abstract June 2023

Molecular diagnostic yield for Black/African American participants in eyeGENE ®

Nia Moore; Melissa Reeves; Kerry E Goetz; Bin Guan; Ehsan Ullah; Kari Branham; K. Thiran Jayasundera; Santa J Tumminia; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3079.

ARVO Annual Meeting Abstract June 2023

Evaluation of X-chromosome inactivation in a large cohort of females with X-linked retinal diseases

Chelsea Bender; Bin Guan; Amelia Naik; Ehsan Ullah; Amy Turriff; Aime Agather; Delphine Blain; Santa J Tumminia; Brian Patrick Brooks; Laryssa Huryn; Wadih M Zein; Catherine Cukras; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4496.

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.

Special Issue August 2021

The NEI Audacious Goals Initiative: Advancing the Frontier of Regenerative Medicine

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Steven M. Becker; Santa J. Tumminia; Michael F. Chiang
TAGS: regenerative medicine
Trans. Vis. Sci. Tech.. 2021; 10(10):2. https://doi.org/10.1167/tvst.10.10.2

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.

Perspective November 2020

Ocular Surface – Merging Challenges and Opportunities

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Houmam Araj; Santa J. Tumminia; David T. Yeung

Trans. Vis. Sci. Tech.. 2020; 9(12):3. https://doi.org/10.1167/tvst.9.12.3

New Developments in Vision Research June 2020

NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future

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Charles Wright; Anna E. Mazzucco; Steven M. Becker; Paul A. Sieving; Santa J. Tumminia
TAGS: age-related macular degeneration, genetics, biological markers, community, disease progression, research personnel, datasets
Trans. Vis. Sci. Tech.. 2020; 9(7):49. https://doi.org/10.1167/tvst.9.7.49

ARVO Annual Meeting Abstract July 2018

Analysis of the PRPH2 -associated Retinopathy Cohort within the National Ophthalmic Disease Genotype Phenotype Network (eyeGENE®)

Santa J Tumminia; Wadih M Zein; Robert B Hufnagel; Kerry E Goetz; Melissa Reeves

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2331.

ARVO Annual Meeting Abstract June 2017

NEI eyeGENE ® clinical research data accessibility through a Biomedical Research Informatics Computing System

Santa J Tumminia; Yvonne O Akporji; Chelsea Bender; Jemma Iano-Fletcher; Andrew Hughes; Matthew McAuliffe; Leonie Misquitta; Rebecca S Parrish; Melissa J Reeves; Kerry E Goetz

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):585.

ARVO Annual Meeting Abstract September 2016

A Set of Ophthalmologic Logical Observation Identifiers Names and Codes (LOINC ® ) for Standardizing Data Collection in eyeGENE ® and in Other Ocular Clinical Studies

Santa J Tumminia; Swapna Abhyankar; Bryan Hendrickson; Robert Hufnagel; Daniel Hutter; Clement McDonald; Kerry Goetz

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):669.

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.

Retina October 2014

CNGB3 -Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function

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Wadih M. Zein; Brett G. Jeffrey; Henry E. Wiley; Amy E. Turriff; Santa J. Tumminia; Weng Tao; Ronald A. Bush; Dario Marangoni; Rong Wen; Lisa L. Wei; Paul A. Sieving
TAGS: achromatopsia, ciliary neurotrophic factor, retinal cone, rod photoreceptors, implants, eye, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2014; 55(10):6301-6308. https://doi.org/10.1167/iovs.14-14860

Includes: Supplemental Content

Genetics September 2014

Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss

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Akhila Alapati; Kerry Goetz; John Suk; Mili Navani; Amani Al-Tarouti; Thiran Jayasundera; Santa J. Tumminia; Pauline Lee; Radha Ayyagari
TAGS: blindness, diagnostic techniques and procedures, genes, hereditary retinal dystrophy, mutation, phenotype, retinal dystrophies, vitelliform dystrophy, retinitis pigmentosa, progressive cone-rod dystrophy
Invest. Ophthalmol. Vis. Sci.. 2014; 55(9):5510-5521. https://doi.org/10.1167/iovs.14-14359

ARVO Annual Meeting Abstract April 2014

High-throughtput NGS of 60 Genes Involved in Inherited Corneal Disorders

Xinjing Wang; Danyao Nie; Angela Turner; Keith Wetherby; Kerry Gotez; Alexandra Garafalo; Rebecca Parrish; Santa J Tumminia; Kory Johnson; Yang Fann

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1023.

ARVO Annual Meeting Abstract April 2014

RGR gene mutation causative of peripapillary choroidal atrophy

Monique J Leys; Angela Turner; Hong He; MaryBeth Hummel; Alexandra Garafalo; Rebecca Parrish; Nora Morris; Santa J Tumminia; Xinjing Wang

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1242.

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. https://doi.org/10.1167/iovs.13-12605

Includes: Supplemental Content

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Genotype–Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes

Harmonization of variants in the eyeGENE ® cohort for data sharing

Digital droplet PCR enables genotyping the red-green opsin array for clinical diagnostics

SpliceAI predicted pathogenic synonymous variants in inherited ophthalmic disease genes

Molecular diagnostic yield for Black/African American participants in eyeGENE ®

Evaluation of X-chromosome inactivation in a large cohort of females with X-linked retinal diseases

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

The NEI Audacious Goals Initiative: Advancing the Frontier of Regenerative Medicine

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

Ocular Surface – Merging Challenges and Opportunities

NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future

Analysis of the PRPH2 -associated Retinopathy Cohort within the National Ophthalmic Disease Genotype Phenotype Network (eyeGENE®)

NEI eyeGENE ® clinical research data accessibility through a Biomedical Research Informatics Computing System

A Set of Ophthalmologic Logical Observation Identifiers Names and Codes (LOINC ® ) for Standardizing Data Collection in eyeGENE ® and in Other Ocular Clinical Studies

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

CNGB3 -Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function

Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss

High-throughtput NGS of 60 Genes Involved in Inherited Corneal Disorders

RGR gene mutation causative of peripapillary choroidal atrophy

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

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