Ruebena Dawes

机构：Centre for Human Genetics, Open Data Institute, University of Oxford · ORCID：0000-0003-2135-0117

发表论文 20 篇 · 总被引 488 次 · h-index 9

代表论文

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
• Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants (2021 · Genetics in Medicine · 被引 105)
• SpliceVault predicts the precise nature of variant-associated mis-splicing (2023 · Nature Genetics · 被引 95)
• Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality (2019 · npj Genomic Medicine · 被引 46)
• Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data (2022 · Nature Communications · 被引 33)
• The role of untranslated region variants in Mendelian disease: a review (2025 · European Journal of Human Genetics · 被引 14)