Items where authors include "O’Keefe, R.T."

Article

Jackson, A. orcid.org/0000-0002-3674-3960, Blakes, A.J.M. orcid.org/0000-0002-0260-7020, Alhaddad, B. et al. (59 more authors) (2026) Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy. Nature Genetics, 58 (4). pp. 798-809. ISSN 1061-4036

Jackson, A. orcid.org/0000-0002-3674-3960, Thaker, N. orcid.org/0009-0006-7025-8842, Blakes, A. orcid.org/0000-0002-0260-7020 et al. (20 more authors) (2025) Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes. Nature Genetics, 57 (6). pp. 1362-1366. ISSN 1061-4036

Preprint

Jiang, F., Boylan, M., Maxwell, D.W. et al. (24 more authors) (2025) The RNA splicing factor PRPF8 is required for left-right organiser cilia function and determination of cardiac left-right asymmetry via regulation of Arl13b splicing. [Preprint]