Items where authors include "Hurles, ME"
Article
Gerrard, DT, Berry, AA, Jennings, RE et al. (14 more authors) (2020) Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders. Nature Communications, 11 (1). 3920. ISSN 2041-1723
Thaventhiran, JED, Lango Allen, H, Burren, OS et al. (57 more authors) (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature, 583. pp. 90-95. ISSN 0028-0836
Thaventhiran, JED, Lango Allen, H, Burren, OS et al. (56 more authors) (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature, 583. pp. 90-95. ISSN 0028-0836
Aitken, S, Firth, HV, McRae, J et al. (280 more authors) (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105 (5). pp. 933-946. ISSN 0002-9297
Lord, J, McMullan, DJ, Eberhardt, RY et al. (40 more authors) (2019) Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study. Obstetrical & Gynecological Survey, 74 (7). pp. 394-396. ISSN 0029-7828
Lord, J, McMullan, DJ, Eberhardt, RY et al. (40 more authors) (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. The Lancet, 393 (10173). pp. 747-757. ISSN 0140-6736
Bengani, H, Handley, M orcid.org/0000-0001-7200-747X, Alvi, M et al. (31 more authors) (2017) Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in Medicine, 19 (8). pp. 900-908. ISSN 1098-3600
McRae, JF, Clayton, S, Fitzgerald, TW et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542. pp. 433-438. ISSN 0028-0836
McRae, JF, Clayton, S, Fitzgerald, TW et al. (298 more authors) (2016) Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study. bioRxiv. (Submitted)
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