Author

Ruebena Dawes

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Open access Sep 2026

A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome

A robust RNA biomarker for T-loop ReNU syndrome for use in therapeutic development is defined, and a general framework for portable biomarker discovery in spliceopathies is illustrated.

Ruebena Dawes, A. Blakes, Theodora Markati et al. · medRxiv · 0 citations

#protein folding Open access Sep 2026

Modulating splicing in 5ʹ untranslated regions to treat rare haploinsufficient disease

It is shown that splice-switching ASOs can elicit target exon skipping and up-regulate endogenous protein levels, and it is shown that TSC1 uORFs act additively to reduce protein translation.

Eloise S. Beer Wells, L. De Conti, Hyung Chul Kim et al. · Genome Medicine · 0 citations