@misc{indiciae310420dd4d56, title = {Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.}, author = {Daniel Greene and Rodrigo Mendez and Jon Lees and Mafalda Barbosa and Alessandro Bruselles and Luigi Chiriatti and Cecilia Mancini and Undiagnosed Diseases Network and Enrico Silvio Bertini and Devon E Bonner and Thomas A Cassini and Kimberly M Ezell and Natalia Gomez-Ospina and Lynette Rives and Vandana Shashi and Rebecca C Spillmann and Mohamed Wafik and Marco Tartaglia and Jonathan A Bernstein and Andrew D Mumford and Matthew T Wheeler and Ernest Turro}, year = {2025}, doi = {10.1101/2025.08.26.25334179}, url = {https://pubmed.ncbi.nlm.nih.gov/40909831/}, note = {Source identifier: 40909831} }