Ruebena Dawes
8PUBLICATIONS
92CO-AUTHORS

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Publications (8)
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|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.Rocio Rius, Alexander J M Blakes, Yuyang Chen
|Apr 08, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji
|Apr 29, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji
|Jul 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim
|Feb 06, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicing.Ruebena Dawes, Adam M Bournazos, Samantha J Bryen
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Frequent Collaborators
5 joint publications
Christel Depienne
5 joint publications
Cas Simons
5 joint publications
Nicola Whiffin
5 joint publications
Yuyang Chen
5 joint publications
Hyung Chul Kim
5 joint publications
Rocio Rius
4 joint publications
Chloe A Cunningham
4 joint publications
Joachim De Jonghe
4 joint publications
Salima El Chehadeh
4 joint publications
Alexander Jm Blakes