Items where authors include "Douzgou, S"
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Taylor, RL, Soriano, CS, Williams, S et al. (9 more authors) (2022) Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia. Orphanet Journal of Rare Diseases, 17. 110. ISSN 1750-1172
Hsieh, T-C, Mensah, MA, Pantel, JT et al. (91 more authors) (2019) PEDIA: prioritization of exome data by image analysis. Genetics in Medicine, 21 (12). pp. 2807-2814. ISSN 1098-3600
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
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)