Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

Abstract Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain genetically unexplained following conventional genetic testing, we aimed to obtain a genetic...

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Bibliographic Details
Main Authors: Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer-Wigman, Jordi Corominas, Galuh D. N. Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma S. Duignan, Paul F. Kenna, Frans P. M. Cremers, G. Jane Farrar, Susanne Roosing
Format: Article
Language:English
Published: Nature Portfolio 2021-11-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-021-00261-1

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https://doi.org/10.1038/s41525-021-00261-1

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