Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Abstract Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour promoting and suppressing effects. We perform saturation genome editing of DDX3X, testing in vitro the functional imp...

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Bibliographic Details
Main Authors: Elizabeth J. Radford, Hong-Kee Tan, Malin H. L. Andersson, James D. Stephenson, Eugene J. Gardner, Holly Ironfield, Andrew J. Waters, Daniel Gitterman, Sarah Lindsay, Federico Abascal, Iñigo Martincorena, Anna Kolesnik-Taylor, Elise Ng-Cordell, Helen V. Firth, Kate Baker, John R. B. Perry, David J. Adams, Sebastian S. Gerety, Matthew E. Hurles
Format: Article
Language:English
Published: Nature Portfolio 2023-12-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-43041-4

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https://doi.org/10.1038/s41467-023-43041-4

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