1. Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy | Nature Genetics

    2. Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder | medRxiv preprint

    3. Analysis of R-loop forming regions identifies RNU2-2and RNU5B-1 as neurodevelopmental disorder genes | Nature Genetics

    4. Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies | medRxiv preprint

    5. Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy | medRxiv preprint

    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. Greene, D., Mendez, R., Lees, J. et al.
      Biallelic Variants in RNU2-2 Cause the Most Prevalent Known Recessive Neurodevelopmental Disorder.
      medRxiv https://doi.org/10.1101/2025.08.26.25334179

    3. 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 Genet57, 1362–1366 (2025). https://doi.org/10.1038/s41588-025-02209-y

    4. Leitão, E., Santos, M., Wang, L. et al.
      Systematic Analysis of snRNA Genes Reveals Frequent RNU2-2 Variants in Dominant and Recessive Developmental and Epileptic Encephalopathies.
      medRxiv https://doi.org/10.1101/2025.09.02.25334923

    5. Jackson, A., Patel, R., Thaker, N. et al.
      Biallelic Variants in RNU2-2 Cause a Remarkably Frequent Developmental Epileptic Encephalopathy.
      medRxiv https://doi.org/10.1101/2025.09.02.25334957