Items where authors include "Clowes, V."
Article
Stafford-Smith, B., Gurasashvili, J., Peter, M. et al. (19 more authors) (2024) “I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project. European Journal of Human Genetics. ISSN 1018-4813
Vezyroglou, A., Akilapa, R., Barwick, K. et al. (26 more authors) (2022) The phenotypic continuum of ATPLA3-related disorders. Neurology, 99 (14). e1511-e1526. ISSN 0028-3878
Durkin, A., Albaba, S., Fry, A.E. et al. (19 more authors) (2020) Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A, 182 (7). pp. 1637-1654. ISSN 1552-4825
Blanchet, P., Bebin, M., Bruet, S, et al. (16 more authors) (2017) MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. PLoS Genetics, 13 (8). e1006957. ISSN 1553-7390
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