Items where authors include "Tomkins, S."

Article

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Willoughby, J., Fry, A.E. et al. (10 more authors) (2017) Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Journal of Medical Genetics, 54 (8). pp. 537-543. ISSN 0022-2593

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