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

The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is shown to be systematically disrupted in individuals with RNU4-2 variants.

Yuyang Chen
Ruebena Dawes
Nicola Whiffin
ResearchOpen Access11 Jul 2024
Nature

Volume: 632, P: 832-840
SpliceVault predicts the precise nature of variant-associated mis-splicing

Re-analysis of published RNA-sequencing samples finds that unannotated splicing events predict, with high sensitivity, the activation of exon skipping and cryptic splicing by splice-site variants.

Ruebena Dawes
Adam M. Bournazos
Sandra T. Cooper
ResearchOpen Access06 Feb 2023
Nature Genetics

Volume: 55, P: 324-332
Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data

Genetic variants affecting the consensus splicing motifs can alter binding of spliceosomal components and induce mis-splicing. Here, the authors develop a method, showing that ranking the most common recurring mis-splicing events in public RNA-Seq data can predict the activation of cryptic-donors.

Ruebena Dawes
Himanshu Joshi
Sandra T. Cooper
ResearchOpen Access29 Mar 2022
Nature Communications

Volume: 13, P: 1-12
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint

Katharine Y. Zhang
Himanshu Joshi
Frances J. Evesson
ResearchOpen Access27 May 2024
European Journal of Human Genetics

Volume: 32, P: 972-979
Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

Ruebena Dawes
Monkol Lek
Sandra T. Cooper
ReviewsOpen Access15 Apr 2019
npj Genomic Medicine

Volume: 4, P: 1-11

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

SpliceVault predicts the precise nature of variant-associated mis-splicing

Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data

Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

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