Items where authors include "Wakeling, E"

Article

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

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

Whitworth, J, Smith, PS, Martin, J-E et al. (330 more authors) (2018) Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes. The American Journal of Human Genetics, 103 (1). pp. 3-18. ISSN 0002-9297

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

Carss, KJ, Arno, G, Erwood, M et al. (35 more authors) (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics, 100 (1). pp. 75-90. ISSN 0002-9297

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)