Items where authors include "Deshpande, C."

Article

Glasbey, J.C., Abbott, T.E.F., Ademuyiwa, A. et al. (4500 more authors) (2022) Elective surgery system strengthening: development, measurement, and validation of the surgical preparedness index across 1632 hospitals in 119 countries. The Lancet, 400 (10363). pp. 1607-1617. ISSN 0140-6736

Nolden, K.A., Egner, J.M., Collier, J.J. et al. (21 more authors) (2022) Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms. Life Science Alliance, 5 (12). ARTN e202101284.

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

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

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