Items where authors include "Deshpande, C"

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Number of items: 6.

Article

Aitken, S, Firth, HV, McRae, J et al. (280 more authors) (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105 (5). pp. 933-946. ISSN 0002-9297

Wei, W, Tuna, S, Keogh, MJ et al. (426 more authors) (2019) Germline selection shapes human mitochondrial DNA diversity. Science, 364 (6442). 749-+. ISSN 0036-8075

Whitworth, J, Smith, PS, Martin, J-E et al. (330 more authors) (2018) Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes. The American Journal of Human Genetics, 103 (1). pp. 3-18. ISSN 0002-9297

Taylor, RL, Handley, MT orcid.org/0000-0001-7200-747X, Waller, S et al. (12 more authors) (2017) Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. Investigative Ophthalmology & Visual Science, 58 (1). pp. 594-603. ISSN 0146-0404

McRae, JF, Clayton, S, Fitzgerald, TW et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542. pp. 433-438. ISSN 0028-0836

McRae, JF, Clayton, S, Fitzgerald, TW et al. (298 more authors) (2016) Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study. bioRxiv. (Submitted)

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