Search | IOVS | ARVO Journals

Showing 1 – 17 of 17

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

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

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

Establishing Standardized Criteria to Improve the Interpretation of Genetic Testing for Ocular Disorders

Kristy Lee; Emily Place; Radha Ayyagari; Rui Chen; Kerry Goetz; Robert B Hufnagel; Linda Reis; Susanne Roosing; Emmanuelle Souzeau; Patrick Yu-Wai-Man; Brian Mansfield; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1566. 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 2019

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

Yuri V Sergeev; Kaoru Fujinami; Benedetto Falsini; Wadih M Zein; Kerry Goetz; Yu Yokokawa Fujinami; Se Joon Woo; Shiying Li; Matteo Bertelli; Winston Lee; Jana Zernant; Rando Allikmets; Andrew Webster; Michel Michaelides; Brian Patrick Brooks; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3872. doi:

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. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract September 2016

Mutations in Receptor Expression Enhancing Protein 6 (REEP6) Cause Early Onset RP in Humans.

Smriti Agrawal; Aiden Eblimit; Feng Wang; Mingchu Xu; Kerry Goetz; Yumei Li; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6586. 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:

ARVO Annual Meeting Abstract June 2015

Stargardt ABCA4 mutation analysis in trans-membrane and nucleotide-binding domains

Yuri V Sergeev; Katherine Pogrebniak; Kaoru Fujinami; Benedetto Falsini; Wadih M Zein; Kerry E Goetz; Thiran Jayasundera; Michel Michaelides; Brian Patrick Brooks; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2860. doi:

Genetics September 2014

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

PDF

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. doi: https://doi.org/10.1167/iovs.14-14359

Biochemistry and Molecular Biology September 2013

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

PDF

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 June 2013

Molecular modeling of functional domain of ABCA4: towards understanding the genotype-to-phenotype relationships in Stargardt’s disease

Yuri Sergeev; Katherine Pogrebniak; Benedetto Falsini; Wadih Zein; Kerry Goetz; Jillian Huang; Crandall Peeler; Kanishka Jayasundera; Brian Brooks; Paul Sieving

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1325. doi:

ARVO Annual Meeting Abstract June 2013

Molecular diagnostic testing by eyeGENE®: Analysis of patients with hereditary maculopathy and/or Cone Rod Dystrophy

John Suk; Akhila Alapati; Kerry Goetz; Santa Tumminia; Radha Ayyagari; Genetics

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1359. doi:

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:

ARVO Annual Meeting Abstract April 2011

Molecular Modeling And Functional Analysis Of Pathogenic Mutations In the Nucleotide Binding Domains Of the Abca4 Transporter

Yuri V. Sergeev; Lauren Dalvin; Jamie Temple; Monika B. Dolinska; Brian P. Brooks; Kerry Goetz

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2390. doi:

NARROW

Content Type

Journal

Article Type

Topics

Tags

Specify Date Range

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

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

Establishing Standardized Criteria to Improve the Interpretation of Genetic Testing for Ocular Disorders

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

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

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

Mutations in Receptor Expression Enhancing Protein 6 (REEP6) Cause Early Onset RP in Humans.

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

Stargardt ABCA4 mutation analysis in trans-membrane and nucleotide-binding domains

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

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

Molecular modeling of functional domain of ABCA4: towards understanding the genotype-to-phenotype relationships in Stargardt’s disease

Molecular diagnostic testing by eyeGENE®: Analysis of patients with hereditary maculopathy and/or Cone Rod Dystrophy

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

Molecular Modeling And Functional Analysis Of Pathogenic Mutations In the Nucleotide Binding Domains Of the Abca4 Transporter

To View More...

You must be signed into an individual account to use this feature.