Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9

Thank you Brigham and Women's Medicine Residents for inviting me to this CPC, and to our coauthors Sonya Davey, Drs. Sun, Amato, and Loscalzo. We hope you learn through this patient’s rare disease how to structure an evaluation of common symptoms at the interface of medicine and neurology.

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16