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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 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.

ARVO Annual Meeting Abstract July 2019

The yield of "clinical" genetic testing in inherited retinal disease: experience at the Hospital for Sick Children, Toronto, Canada

Vaishnavi Batmanabane; Alexander Liam Pearson; Caberry Yu; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3976.

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