Items where authors include "O’Donnell-Luria, A."

Article

Rius, R. orcid.org/0000-0002-9871-3126, Blakes, A.J.M. orcid.org/0000-0002-0260-7020, Chen, Y. orcid.org/0000-0001-5593-6920 et al. (95 more authors) (2026) Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Nature Genetics. pp. 1-13. ISSN 1061-4036

Chen, Y. orcid.org/0000-0001-5593-6920, Dawes, R. orcid.org/0000-0003-2135-0117, Kim, H.C. orcid.org/0000-0001-5877-5456 et al. (116 more authors) (2024) De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632. pp. 832-840. ISSN 0028-0836

Ellingford, J.M., Ahn, J.W., Bagnall, R.D. et al. (24 more authors) (2022) Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine, 14 (1). 73. ISSN 1756-994X