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Meeting Abstract (5)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (7)

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ARVO Annual Meeting Abstract (5)
Genetics (2)

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Genetics (2)
Eye Anatomy and Disorders (1)
Retina (1)

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phenotype (2)
autosomal recessive inheritance (1)
electroretinography (1)
eye (1)
family (1)
genetic pedigree (1)
genetics (1)
introns (1)
mutation (1)
relationship - sibling (1)

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Genetics August 2020

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

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Matteo Di Scipio; Erika Tavares; Shriya Deshmukh; Isabelle Audo; Kit Green-Sanderson; Yuliya Zubak; Fayçal Zine-Eddine; Alexander Pearson; Anjali Vig; Chen Yu Tang; Antonio Mollica; Jonathan Karas; Anupreet Tumber; Caberry W. Yu; Gail Billingsley; Michael D. Wilson; Christina Zeitz; Elise Héon; Ajoy Vincent
TAGS: genetic pedigree, introns, phenotype, retinal dystrophies, reverse transcriptase polymerase chain reaction, rna splicing, whole genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2020; 61(10):36. doi: https://doi.org/10.1167/iovs.61.10.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Discovery of novel disease-causing mutations in inherited retinal dystrophies – an application to retinitis pigmentosa

Caberry W. Yu; Erika Tavares; Vaishnavi Batmanabane; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4475. doi:

ARVO Annual Meeting Abstract July 2019

The number of RPGR cases remains under-represented

Elise Heon; Anjali Vig; Erika Tavares; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):389. doi:

ARVO Annual Meeting Abstract July 2019

A Novel Autosomal Dominant Retinal Dystrophy: Phenotypic description and Preliminary Genetic Investigations in a Pedigree.

Ajoy Vincent; Matteo DiScipio; Erika Tavares; Nicole Roslin; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5050. doi:

ARVO Annual Meeting Abstract September 2016

Whole Exome Sequencing Identifies Mutations in GNB3 to Cause a Novel Congenital Stationary Night Blindness Phenotype

Ajoy Vincent; Erika Tavares; Isabelle S Audo; jason maynes; Shuning Li; Christelle Michiels; Anupreet Tumber; Heather Macdonald; Chelsea Roadhouse; Christina Zeitz; Elise Heon

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

ARVO Annual Meeting Abstract September 2016

SRD5A3 : a gene for complex LCA and early onset retinal dystrophy

Elise Heon; Shuning Li; Erika Tavares; Heather Macdonald; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3134. doi:

Genetics May 2016

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

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Ajoy Vincent; Judith Ng; Christina Gerth-Kahlert; Erika Tavares; Jason T. Maynes; Thomas Wright; Amit Tiwari; Anupreet Tumber; Shuning Li; James V. M. Hanson; Angela Bahr; Heather MacDonald; Luzy Bähr; Carol Westall; Wolfgang Berger; Frans P. M. Cremers; Anneke I. den Hollander; Elise Héon
TAGS: autosomal recessive inheritance, family, genetics, mutation, phenotype, retinoschisis, eye, relationship - sibling, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(6):2637-2646. doi: https://doi.org/10.1167/iovs.15-18281

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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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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