1. Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy | https://www.nature.com/articles/s41588-025-02159-5
2. Analysis of R-loop forming regions identifies RNU2-2and RNU5B-1 as neurodevelopmental disorder genes https://www.nature.com/articles/s41588-025-02209-y
1. Greene, D., De Wispelaere, K., Lees, J. et al. Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy. Nat Genet57, 1367–1373 (2025). https://doi.org/10.1038/s41588-025-02159-5
2. Jackson, A., Thaker, N., Blakes, A. et al. Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes. Nat Genet 57, 1362–1366 (2025). https://doi.org/10.1038/s41588-025-02209-y