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Turro, E, Astle, WJ, Megy, K et al. (60 more authors) (2020) Whole-genome sequencing of patients with rare diseases in a national health system. Nature, 583. pp. 96-102. ISSN 0028-0836

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

Tuijnenburg, P, Lango Allen, H, Burns, SO et al. (28 more authors) (2018) Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. Journal of Allergy and Clinical Immunology, 142 (4). pp. 1285-1296. ISSN 0091-6749

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

This list was generated on Sun Sep 13 21:30:56 2020 BST.