Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization-Reference-Cited by-同舟云学术

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

Published:2020-08-20 Issue:10 Volume:61 Page:36
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Di Scipio Matteo¹,Tavares Erika¹,Deshmukh Shriya¹,Audo Isabelle²³⁴,Green-Sanderson Kit¹,Zubak Yuliya¹,Zine-Eddine Fayçal¹,Pearson Alexander¹,Vig Anjali¹,Tang Chen Yu¹,Mollica Antonio¹,Karas Jonathan¹,Tumber Anupreet⁵,Yu Caberry W.¹,Billingsley Gail¹,Wilson Michael D.¹⁶,Zeitz Christina²,Héon Elise¹⁵⁷,Vincent Ajoy¹⁵⁷

Affiliation:

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

2. Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

3. CHNO des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France

4. University College London Institute of Ophthalmology, London, United Kingdom

5. Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada

6. Department of Molecular Genetics, University of Toronto, Toronto, Canada

7. Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Canada

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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