Publications by authors named "Ruebena Dawes"

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The role of untranslated region variants in Mendelian disease: a review.
Nechama Wieder, Elston N D'Souza, Ruebena Dawes, Alexander Chan, Alexandra Martin-Geary

Eur J Hum Genet· September 2025

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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.
Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, Scott D Findlay, Jenny Lord

Genome Med· April 2025

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Saturation genome editing of reveals distinct dominant and recessive neurodevelopmental disorders.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes

medRxiv· April 2025

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Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes

Eur J Hum Genet· August 2024

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton

Nature· August 2024

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variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker

medRxiv· April 2024

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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, Scott D Findlay, Jenny Lord

medRxiv· September 2023

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SpliceVault predicts the precise nature of variant-associated mis-splicing.
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant

Nat Genet· February 2023

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Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.
Samantha J Bryen, Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang

HGG Adv· October 2022

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Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data.
Ruebena Dawes, Himanshu Joshi, Sandra T Cooper

Nat Commun· March 2022

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Ruebena Dawes

Genet Med· January 2022

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Pro-inflammatory dopamine-2 receptor-specific T cells in paediatric movement and psychiatric disorders.
Deepti Pilli, Alicia Zou, Ruebena Dawes, Joseph A Lopez, Fiona Tea

Clin Transl Immunology· December 2020

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Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.
Ruebena Dawes, Monkol Lek, Sandra T Cooper

NPJ Genom Med· April 2019

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