Items where authors include "Gardham, A."

Article

Copeland, H., Low, K.J., Wynn, S.L. et al. (89 more authors) (2024) Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders. Genetics in Medicine Open, 2. 101864. ISSN 2949-7744

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Yu, J., Walker, S. et al. (65 more authors) (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6). pp. 1140-1164. ISSN 0002-9297

Lee, S., Ochoa, E., Badura-Stronka, M. et al. (12 more authors) (2023) Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. European Journal of Human Genetics, 31 (9). pp. 1040-1047. ISSN 1018-4813

Durkin, A., Albaba, S., Fry, A.E. et al. (19 more authors) (2020) Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A, 182 (7). pp. 1637-1654. ISSN 1552-4825

Preprint

Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint] (Submitted)