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Article

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

Investigative ophthalmology & visual science - 3 Aug 2020

Di Scipio Matteo, Tavares Erika, Deshmukh Shriya, Audo Isabelle, Green-Sanderson Kit, Zubak Yuliya, Zine-Eddine Fayçal, Pearson Alexander, Vig Anjali, Tang Chen Yu, Mollica Antonio, Karas Jonathan, Tumber Anupreet, Yu Caberry W, Billingsley Gail, Wilson Michael D, Zeitz Christina, Héon Elise, Vincent Ajoy

Abstract excerpt

Purpose: To demonstrate the effectiveness of combining retinal phenotyping and focused variant filtering from genome sequencing (GS) in identifying deep intronic disease causing variants in inherited retinal dystrophies. Methods: Affected members from three pedigrees with classical enhanced S-cone syndrome (ESCS; Pedigree 1), congenital stationary night blindness (CSNB; Pedigree 2), and achromatopsia (ACHM;...

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Identifiers

PMID: 32881472
DOI: 10.1167/iovs.61.10.36
PMCID: PMC7443117

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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