Items where authors include "Newbury-Ecob, R."

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Number of items: 5.

Article

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Dingemans, A.J.M., Albaba, S. et al. (36 more authors) (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29 (4). pp. 625-636. ISSN 1018-4813

McNeill, A., Iovino, E., Mansard, L. et al. (17 more authors) (2020) SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. Brain, 143 (8). pp. 2380-2387. ISSN 0006-8950

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)

This list was generated on Sun Mar 24 10:38:17 2024 GMT.