Items where authors include "Caulfield, MJ"
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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
Turro, E, Astle, WJ, Megy, K et al. (60 more authors) (2020) Whole-genome sequencing of patients with rare diseases in a national health system. Nature, 583. pp. 96-102. ISSN 0028-0836
CRyPTIC Consortium, 100000 Genomes Project, Allix-Beguec, C et al. (90 more authors) (2018) Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing. New England Journal of Medicine, 379 (15). pp. 1403-1415. ISSN 0028-4793
Shungin, D, Winkler, TW, Croteau-Chonka, DC et al. (416 more authors) (2015) New genetic loci link adipose and insulin biology to body fat distribution. Nature, 518 (7538). pp. 187-196. ISSN 0028-0836
Craddock, N, Hurles, ME, Cardin, N et al. (215 more authors) (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464 (7289). pp. 713-720. ISSN 0028-0836