Publicaciones en colaboración con investigadores/as de University of North Carolina at Chapel Hill (117)

2023

  1. 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

  2. Acute respiratory distress syndrome after SARS-CoV-2 infection on young adult population: International observational federated study based on electronic health records through the 4CE consortium

    PLoS ONE, Vol. 18, Núm. 1 January

  3. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

    Genome Medicine, Vol. 15, Núm. 1

  4. Association of HER2DX with pathological complete response and survival outcomes in HER2-positive breast cancer

    Annals of Oncology, Vol. 34, Núm. 9, pp. 783-795

  5. 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

  6. Circulating tumor DNA reveals complex biological features with clinical relevance in metastatic breast cancer

    Nature Communications, Vol. 14, Núm. 1

  7. 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

  8. External applicability of the Effect of ticagrelor on Health Outcomes in diabEtes Mellitus patients Intervention Study (THEMIS) trial: An analysis of patients with diabetes and coronary artery disease in the REduction of Atherothrombosis for Continued Health (REACH) registry

    International Journal of Cardiology, Vol. 370, pp. 51-57

  9. Mayo Clinic Consensus Report on Membranous Nephropathy: Proposal for a Novel Classification

    Mayo Clinic Proceedings

  10. Mayo Clinic consensus report on membranous nephropathy: proposal for a novel classification

    Kidney International, Vol. 104, Núm. 6, pp. 1092-1102

  11. Potential pitfalls in the use of real-world data for studying long COVID

    Nature Medicine

  12. Prognostic value of intrinsic subtypes in hormone-receptor-positive metastatic breast cancer: systematic review and meta-analysis

    ESMO Open, Vol. 8, Núm. 3

  13. Safety and efficacy of immune checkpoint inhibitors in advanced penile cancer: report from the Global Society of Rare Genitourinary Tumors

    Journal of the National Cancer Institute, Vol. 115, Núm. 12, pp. 1605-1615

  14. Sarcopenic obesity research perspectives outlined by the sarcopenic obesity global leadership initiative (SOGLI) – Proceedings from the SOGLI consortium meeting in rome November 2022

    Clinical Nutrition

  15. Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

    Nature genetics, Vol. 55, Núm. 3, pp. 369-376