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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

Elkaim, E, Neven, B, Bruneau, J et al. (40 more authors) (2016) Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. Journal of Allergy and Clinical Immunology, 138 (1). 210-218.e9. ISSN 0091-6749

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