Items where authors include "Danecek, P."

Article

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

Wright, C.F., Quaife, N.M., Ramos-Hernández, L. et al. (31 more authors) (2021) Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics, 108 (6). pp. 1083-1094. ISSN 0002-9297

Kaplanis, J., Samocha, K.E., Wiel, L. et al. (30 more authors) (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586 (7831). pp. 757-762. ISSN 0028-0836