Items where authors include "Smithson, S."
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
Thornley, P., Bishop, N. orcid.org/0000-0001-7263-8546, Baker, D. et al. (10 more authors) (2022) Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study. Archives of Disease in Childhood, 107 (5). pp. 486-490. ISSN 0003-9888
Bownass, L., Abbs, S., Armstrong, R. et al. (24 more authors) (2019) PAPSS2‐related brachyolmia : clinical and radiological phenotype in 18 new cases. American Journal of Medical Genetics Part A, 179 (9). pp. 1884-1894. ISSN 1552-4825
Radley, J.A. orcid.org/0000-0002-0776-0091, O'Sullivan, R.B.G., Turton, S.E. et al. (14 more authors) (2019) Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. Clinical Genetics, 95 (4). pp. 496-506. ISSN 0009-9163
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
Preprint
Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint] (Submitted)