| Title | Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy |
| Publication Type | Journal Article |
| Year of Publication | 2025 |
| Authors | Greene, D, De Wispelaere, K, Lees, J, Codina-Solà, M, Jensson, BO, Hales, E, Katrinecz, A, Molina, ENieto, Porras, MSevilla, Pascoal, S, Valenzuela, I, Pfundt, R, Schot, R, Sleutels, F, Wijngaard, R, Carrera, IArroyo, Rodríguez, ADuat, Atton, G, Casas-Alba, D, Donnelly, D, Garoz, BFernández, Foulds, N, Núñez, DGarcía-Na, Alguacil, EGonzález, Jarvis, J, Kant, SG, Bajo, IMadrigal, Martinez-Monseny, AF, McKee, S, Jamardo, ASariego, Stefansson, K, Bodi, LRodríguez, Cabrera, NValentina, Sulem, P, Suri, M, Van Karnebeek, C, Vasudevan, P, Pajares, AIsabel Veg, Carracedo, Á, Engelen, M, Lapunzina, P, Morgan, NP, Morte, B, Rump, P, Stirrups, K, Tizzano, EF, Barakat, TStefan, O’Donoghue, M, Pérez-Jurado, LAlberto, Freson, K, Mumford, AD, Turro, E |
| Journal | Nature Genetics |
| Date Published | Oct-04-2025 |
| ISSN | 1061-4036 |
| URL | https://www.nature.com/articles/s41588-025-02159-5https://www.nature.com/articles/s41588-025-02159-5.pdfhttps://www.nature.com/articles/s41588-025-02159-5.pdfhttps://www.nature.com/articles/s41588-025-02159-5 |
| DOI | 10.1038/s41588-025-02159-5 |
| Short Title | Nat Genet |
