Huge thank you to the patients and families who generously gave samples, without whom this work wouldn't have been possible 💙 And to amazing collaborators: Carlo Rinaldi, Dora Markati, Mike Griffiths, Benjamin Cogné, @stefanbarakat.bsky.social, @jeffbarrett.eu, and Stephan Sanders 🙏 End 🧵

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Excited to share our new preprint "A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome" tinyurl.com/RENUsig Led by super⭐ duo @ruebenadawes.bsky.social @alexblakes.bsky.social We show that just 6 alternative 5'splice site events perfectly predict ReNU syndrome 🧬 🧵 1/4

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What a breakthrough! Such a puzzle for 30 years, this is real progress! I wonder how general this mechanism of repression is for other systems where highly-selective expression is needed. www.biorxiv.org/content/10.6...

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Our latest preprint revisits the classic model of mutation-selection balance. Do human recessive genes fit Haldane's 100-year old model? This work is by the wonderful @jonj-udd.bsky.social, and co-mentored by @jeffspence.github.io www.biorxiv.org/content/10.6...

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“Ok fine, but what about the X chromosome, you always forget that” This time we didn’t ignore the X chromosome! We show that you should pay special attention to non-pseudoautosomal X chromosome where QC should be more lenient for haploid males.

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