Items where authors include "Foulds, N."
Article
Copeland, H., Low, K.J., Wynn, S.L. et al. (89 more authors) (2024) Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders. Genetics in Medicine Open, 2. 101864. ISSN 2949-7744
Richardson, R., Baralle, D., Bennett, C. et al. (19 more authors) (2022) Further delineation of phenotypic spectrum of SCN2A-related disorder. American Journal of Medical Genetics Part A, 188 (3). pp. 867-877. ISSN 1552-4825
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
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
Akawi, N., McRae, J., Ansari, M. et al. (40 more authors) (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47 (11). pp. 1363-1369. ISSN 1061-4036
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)