A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome
Ruebena Dawes, Alexander J. M. Blakes, Theodora Markati, Michael Griffiths, Benjamin Cogné, Tahsin Stefan Barakat, Jeffrey C. Barrett, Carlo Rinaldi, Stephan Sanders, Nicola Whiffin
The paper identifies a cross-tissue splicing signature as a biomarker for ReNU syndrome, distinguishing affected individuals from controls with high specificity.
medRxiv · Sep 28, 2026 · PreprintGenetic & Genomic Medicine