Dr Ruebena Dawes
Contact information
Research groups
Ruebena Dawes
PhD
Postdoctoral Bioinformatician
Ruebena is a researcher in the Nuffield Department of Medicine and the Big Data Institute at the University of Oxford, working with Nicky Whiffin. She is one of the lead analysts on a collaborative project with the Novo Nordisk Research Centre Oxford (NNRCO), identifying small Open Reading Frames (smORFs) associated with cardiometabolic phenotypes in the UK Biobank.
Prior to joining Nicky Whiffin’s group at Oxford, she completed my doctoral studies at The University of Sydney, where she researched methods to predict if and how genetic variants cause mis-splicing in rare disease.
Recent publications
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.
Preprint
De Jonghe J. et al, (2025)
Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores
Preprint
Martin-Geary A. et al, (2025)
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Journal article
Chen Y. et al, (2024), Nature, 632, 832 - 840
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Conference paper
Chen Y. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 854 - 854