Greene D, De Wispelaere K, Lees J, Codina-Solà M, Jensson BO, Hales E, Katrinecz A, Nieto-Molina E, Pascoal S, Pfundt R, Schot R, Sevilla-Porras M, Sleutels F, Valenzuela I, Wijngaard R, Arroyo-Carrera I, Atton G, Casas-Alba D, Donnelly D, Duat-Rodríguez A, Fernández-Garoz B, Foulds N, García-Navas Núñez D, González-Alguacil E, Jarvis J, Kant SG, Madrigal-Bajo I, Martinez-Monseny AF, Mckee S, Ortiz-Cabrera NV, Rodríguez-Revenga Bodi L, Sariego-Jamardo A, Stefansson K, Sulem P, Suri M, Van Karnebeek C, Vasudevan P, Vega-Pajares AI, Carracedo Á, Engelen M, Lapunzina P, Morgan NP, Morte B, Rump P, Stirrups K, Tizzano EF, Barakat TS, O'donoghue M, Pérez-Jurado L, Freson K, Mumford AD, Turro E
*.
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy. Nat Genet 2025; 57(6): 1367-1373.
