Concepedia

Ruebena Dawes

RD

Statistics

Publications

7

Citations

381

H-Index

7

Active since

2021

Affiliations

Children's Hospital at Westmead(Current)

The University of Melbourne

Children's Medical Research Institute

Murdoch Children's Research Institute

The University of Sydney

Ruebena Dawes is an author at Children's Hospital at Westmead specializing in genomics, life sciences, and rna splicing.

Publications per year

2021–2025

7

Publications

7

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

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

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

Ruebena Dawes, Adam Bournazos, Samantha J. Bryen et al. · Nature Genetics · 2023 · 92 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +17

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

Ruebena Dawes, Himanshu Joshi, Sandra T. Cooper · Nature Communications · 2022 · 33 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disorders

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji et al. · medRxiv · 2025 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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