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
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Saturation genome editing ofRNU4-2reveals distinct dominant and recessive neurodevelopmental disorders
Preprint
De Jonghe J. et al, (2025)
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Journal article
Chen Y. et al, (2024), Nature, 632, 832 - 840