Items where authors include "Stuckey, A"

Article

Best, S, Yu, J, Lord, J et al. (17 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59 (12). pp. 1151-1164. ISSN 0022-2593

Best, S, Lord, J, Roche, M et al. (13 more authors) (2022) Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. Journal of Medical Genetics, 59 (8). pp. 737-747. ISSN 0022-2593

Al-Jawahiri, R orcid.org/0000-0002-5689-3368, Foroutan, A, Kerkhof, J et al. (111 more authors) (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24 (6). pp. 1261-1273. ISSN 1098-3600

Niemi, MEK, Karjalainen, J, Liao, RG et al. (3763 more authors) (2021) Mapping the human genetic architecture of COVID-19. Nature, 600 (7889). pp. 472-477. ISSN 0028-0836