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Journal Articles (3)
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Investigative Ophthalmology & Visual Science (4)

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ARVO Annual Meeting Abstract (1)
Genetics (1)
Glaucoma (1)
Lens (1)

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Genetics (3)
Eye Anatomy and Disorders (2)
Glaucoma (1)
Lens (1)

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exons (2)
mutation (2)
amplification (1)
cataract (1)
child (1)
chromosomes (1)
genetic heterogeneity (1)
genetic pedigree (1)
glaucoma (1)
introns (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. https://doi.org/10.1167/iovs.61.10.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Is C8orf37 the eighteenth BBS gene? A case report

Elise Heon; Sophie Qin; Helene Dollfus; Val Sheffield; Edwin M Stone; Gail Billingsley; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3271.

Glaucoma September 2004

Defining the Pathogenicity of Optineurin in Juvenile Open-Angle Glaucoma

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Colin E. Willoughby; Louie Loh Yen Chan; Sarah Herd; Gail Billingsley; Nima Noordeh; Alex V. Levin; Yvonne Buys; Graham Trope; Mansoor Sarfarazi; Elise Héon
TAGS: child, open-angle glaucoma, optn gene, pathogenicity, exons, myoc gene, mutation, glaucoma
Invest. Ophthalmol. Vis. Sci.. 2004; 45(9):3122-3130. https://doi.org/10.1167/iovs.04-0107

Lens January 2000

Genetic Heterogeneity of the Coppock-like Cataract: A Mutation in CRYBB2 on Chromosome 22q11.2

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Dan Gill; Robert Klose; Francis L. Munier; Michelle McFadden; Megan Priston; Gail Billingsley; Nicolas Ducrey; Daniel F. Schorderet; Elise Héon
TAGS: cataract, chromosomes, exons, genetic heterogeneity, mutation, amplification
Invest. Ophthalmol. Vis. Sci.. 2000; 41(1):159-165.

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Online ISSN: 1552-5783

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

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