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Meeting Abstract (7)
Journal Articles (5)

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Investigative Ophthalmology & Visual Science (12)

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ARVO Annual Meeting Abstract (7)
Genetics (2)
Articles (1)
Biochemistry and Molecular Biology (1)
Retina (1)

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Eye Anatomy and Disorders (4)
Genetics (4)
Low Vision (2)
Retina (2)
Biochemistry and Molecular Biology (1)
Glaucoma (1)
Imaging (1)
Retinal Imaging (1)
Translational Research (1)
Visual Psychophysics and Physiological Optics (1)

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genes (3)
mutation (3)
dna (2)
eye (2)
hereditary retinal dystrophy (2)
retinitis pigmentosa (2)
academia (organization) (1)
achromatopsia (1)
blindness (1)
ciliary neurotrophic factor (1)

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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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

Retina October 2014

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

PDF

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. doi: 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

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

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. doi: https://doi.org/

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. doi: https://doi.org/

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

Articles May 2012

Harnessing Academia, Government, and Industry

PDF

Santa J. Tumminia
TAGS: academia (organization), community, glaucoma, government, partnerships, united states national institutes of health, vision, eye diseases, science, eye
Invest. Ophthalmol. Vis. Sci.. 2012; 53(5):2515-2521. doi: https://doi.org/10.1167/iovs.12-9483q

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: https://doi.org/

Genetics November 2011

High-Throughput Retina-Array for Screening 93 Genes Involved in Inherited Retinal Dystrophy

PDF

Jin Song; Nizar Smaoui; Radha Ayyagari; David Stiles; Sonia Benhamed; Ian M. MacDonald; Stephen P. Daiger; Santa J. Tumminia; Fielding Hejtmancik; Xinjing Wang
TAGS: genes, hereditary retinal dystrophy, polymerase chain reaction, retina, screening, dna, mutation
Invest. Ophthalmol. Vis. Sci.. 2011; 52(12):9053-9060. doi: https://doi.org/10.1167/iovs.11-7978

Includes: Supplemental Content

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Online ISSN: 1552-5783

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

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