Items where authors include "Elmslie, F."

Article

Middleton, A., Taverner, N., Houghton, C. et al. (3 more authors) (2023) Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom: position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society. European Journal of Human Genetics, 31 (1). pp. 9-12. ISSN 1476-5438

Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2020) Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy. American Journal of Medical Genetics Part A, 182 (4). pp. 713-720. ISSN 1552-4825

Annear, N.M.P., Appleton, R.E., Bassi, Z. et al. (21 more authors) (2019) Tuberous sclerosis complex (TSC) : expert recommendations for provision of coordinated care. Frontiers in Neurology, 10. 1116.

Salway, S. orcid.org/0000-0002-7688-5496, Yazici, E., Khan, N. et al. (4 more authors) (2019) How should health policy and practice respond to the increased genetic risk associated with close relative marriage? results of a UK Delphi consensus building exercise. BMJ Open, 9 (7). e028928. ISSN 2044-6055

McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836

Fitzgerald, T.W., Gerety, S.S., Jones, W.D. et al. (263 more authors) (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519. pp. 223-228. ISSN 0028-0836

Proceedings Paper

Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2019) De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathy. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1471-1472.