Publicacións en colaboración con investigadores/as de University of Melbourne (141)

2023

  1. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

    Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93

  2. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

    Human Mutation, Vol. 2023

  3. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

    Cancer Medicine, Vol. 12, Núm. 15, pp. 16142-16162

  4. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (Nature Genetics, (2023), 55, 1, (89-99), 10.1038/s41588-022-01222-9)

    Nature Genetics

  5. Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

    Nature Communications, Vol. 14, Núm. 1

  6. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

    Nature Genetics, Vol. 55, Núm. 1, pp. 89-99

  7. Diminishing benefits of urban living for children and adolescents’ growth and development

    Nature, Vol. 615, Núm. 7954, pp. 874-883

  8. Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain

    European Journal of Pediatrics, Vol. 182, Núm. 1, pp. 307-317

  9. 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

  10. Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes

    Gastroenterology

  11. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

    Journal of Medical Genetics, Vol. 60, Núm. 12, pp. 1186-1197

  12. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

    European journal of human genetics : EJHG, Vol. 31, Núm. 5, pp. 578-587

  13. Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights

    European Urology, Vol. 84, Núm. 1, pp. 127-137

  14. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567

  15. Global variation in diabetes diagnosis and prevalence based on fasting glucose and hemoglobin A1c

    Nature Medicine, Vol. 29, Núm. 11, pp. 2885-2901

  16. Impact of concurrent tumour events on the prostate cancer outcomes of germline BRCA2 mutation carriers

    European Journal of Cancer, Vol. 185, pp. 105-118