E

Researcher Profile

Elston N. D’Souza

0000-0002-5394-7260

1

Publications

106

Citations

10

Co-Authors

1

Active Years

Publications

Open Access Journal Article Nature Jul 11, 2024

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen · Ruebena Dawes · Hyung Chul Kim · Alicia Ljungdahl +115 more

10.1038/s41586-024-07773-7 106 citations

Publication Timeline

2024

1

Frequent Co-Authors

Christel Depienne

Elizabeth E. Palmer

Lindsay C. Burrage

Marie-Cécile Nassogne

Matthew E. Hurles