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

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding R...

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Bibliographic Details
Main Authors:	Chen, Y, Dawes, R, Kim, HC, Ljungdahl, A, Stenton, SL, Walker, S, Lord, J, Lemire, G, Martin-Geary, AC, Ganesh, VS, Ma, J, Ellingford, JM, Delage, E, D’Souza, EN, Dong, S, Adams, DR, Allan, K, Bakshi, M, Baldwin, EE, Berger, SI, Bernstein, JA, Bhatnagar, I, Blair, E, Brown, NJ, Goriely, A, Hinch, AG, Stewart, HS, Fica, SM, Sanders, SJ, Whiffin, N
Format:	Journal article
Language:	English
Published:	Nature Research 2024

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

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