Publicacións en colaboración con investigadores/as de Università degli Studi di Siena (11)

2023

  1. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

    Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050

2022

  1. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

    PLoS genetics, Vol. 18, Núm. 11, pp. e1010367

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  3. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331

  4. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

    Genetics in Medicine, Vol. 24, Núm. 1, pp. 119-129

  5. Tackling Thyroid Cancer in Europe—The Challenges and Opportunities

    Healthcare (Switzerland), Vol. 10, Núm. 9

2017

  1. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

    Nature Genetics, Vol. 49, Núm. 7, pp. 993-1004

2016

  1. Transmission of HIV drug resistance and the predicted effect on current first-line regimens in Europe

    Clinical Infectious Diseases, Vol. 62, Núm. 5, pp. 655-663

2010

  1. Prior antiplatelet therapy and outcome following intracerebral hemorrhage: A systematic review

    Neurology, Vol. 75, Núm. 15, pp. 1333-1342

2000

  1. Correspondence re: Cameselle-Teijeiro J. Chan JKC: Cribriform-morular variant of papillary carcinoma: A distinctive variant representing the sporadic counterpart of familial adenomatous polyposis-associated thyroid carcinoma? Mod pathol 1999;12:400-11

    Modern Pathology

1980

  1. Neurotransmitter control of growth hormone, thyrotropin and prolactin secretion

    Journal of Endocrinological Investigation: Official Journal of the Italian Society of Endocrinology