Ruebena Dawes

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

Medicine, Genetics, Rna Splicing +11

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

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text

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

Ruebena Dawes, Adam Bournazos, Samantha J. Bryen et al. · Nature Genetics · 2023 · 84 citations · Full text

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

Ruebena Dawes, Himanshu Joshi, Sandra T. Cooper · Nature Communications · 2022 · 29 citations · Full text

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

Samantha J. Bryen, Michaela Yuen, Himanshu Joshi et al. · Human Genetics and Genomics Advances · 2022 · 10 citations · Full text