Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation
About this item
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Author / Creator
Radford, Elizabeth J. , Tan, Hong-Kee , Andersson, Malin H. L. , Stephenson, James D. , Gardner, Eugene J. , Ironfield, Holly , Waters, Andrew J. , Gitterman, Daniel , Lindsay, Sarah , Abascal, Federico , Martincorena, Iñigo , Kolesnik-Taylor, Anna , Ng-Cordell, Elise , Firth, Helen V. , Baker, Kate , Perry, John R. B. , Adams, David J. , Gerety, Sebastian S. and Hurles, Matthew E.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
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 impact of 12,776 nucleotide variants. We id...
Alternative Titles
Full title
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation
Authors, Artists and Contributors
Author / Creator
Tan, Hong-Kee
Andersson, Malin H. L.
Stephenson, James D.
Gardner, Eugene J.
Ironfield, Holly
Waters, Andrew J.
Gitterman, Daniel
Lindsay, Sarah
Abascal, Federico
Martincorena, Iñigo
Kolesnik-Taylor, Anna
Ng-Cordell, Elise
Firth, Helen V.
Baker, Kate
Perry, John R. B.
Adams, David J.
Gerety, Sebastian S.
Hurles, Matthew E.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_787606f0736b45d2b045e1283e0cd595
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_787606f0736b45d2b045e1283e0cd595
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-023-43041-4
