Author

N. Whiffin

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Open access Sep 2026

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

ReNU syndrome is a severe neurodevelopmental disorder caused by de novo variants in the spliceosomal small nuclear RNA (snRNA) gene RNU4-2. Pathogenic variants cluster in two distinct structural regions of the U4 snRNA produced by RNU4-2, the T-loop and Stem III. Aberrant 5' splice site selection is a molecular hallmar...

R. Dawes, A. Blakes, T. Markati et al. · medRxiv · 0 citations

Open access Aug 2026

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

Background: Small nuclear RNAs (snRNAs) are RNA components of the major and minor spliceosomes that play a core role in splice-site recognition and control of the splicing process. Variants in genes that produce snRNAs are increasingly recognised as major contributors to rare disorders, including neurodevelopmental dis...

Elston N. D'souza, A. Blakes, Robin Paluch et al. · medRxiv · 0 citations

#protein folding Open access Sep 2026

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

Rare genetic disorders collectively impact over 300 million people worldwide, yet around 95% have no specific treatments. For the many rare disorders caused by haploinsufficiency, effective therapies need to upregulate protein expression. However, therapeutic upregulation is often not straightforward. Increasing...

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