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Updated: Dec 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies

Matteo Di Scipio1, Erika Tavares1, Shriya Deshmukh1

  • 1Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada.

Investigative Ophthalmology & Visual Science
|September 4, 2020
PubMed
Abstract

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