Publicacións en colaboración con investigadores/as de University Hospital Heidelberg (21)

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

    Genome Medicine, Vol. 15, Núm. 1

  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. 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

  5. The impact of coding germline variants on contralateral breast cancer risk and survival

    American Journal of Human Genetics, Vol. 110, Núm. 3, pp. 475-486

  6. Worldwide survey on implantation of and outcomes for conduction system pacing with His bundle and left bundle branch area pacing leads

    Journal of Interventional Cardiac Electrophysiology, Vol. 66, Núm. 7, pp. 1589-1600

2022

  1. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

    Genome Medicine, Vol. 14, Núm. 1

  2. Common variants in breast cancer risk loci predispose to distinct tumor subtypes

    Breast Cancer Research, Vol. 24, Núm. 1

  3. Incorporating progesterone receptor expression into the PREDICT breast prognostic model

    European Journal of Cancer, Vol. 173, pp. 178-193

  4. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

    British Journal of Sports Medicine, Vol. 56, Núm. 20, pp. 1157-1170

  5. Validation of the OAKS prognostic model for acute kidney injury after gastrointestinal surgery

    BJS Open, Vol. 6, Núm. 1

2021

  1. Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium

    Cancer Epidemiology Biomarkers and Prevention, Vol. 30, Núm. 4, pp. 623-642

  2. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  3. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

    British Journal of Cancer, Vol. 124, Núm. 4, pp. 842-854

  4. Impact of smoking on COVID-19 outcomes: A HOPE Registry subanalysis

    BMJ Nutrition, Prevention and Health, Vol. 4, Núm. 1, pp. 285-292

2020

  1. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

  2. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

    Nature Genetics, Vol. 52, Núm. 6, pp. 572-581

2019

  1. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

    Nature Communications, Vol. 10, Núm. 1

2018

  1. Blau Syndrome–Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series

    American Journal of Ophthalmology, Vol. 187, pp. 158-166

  2. S100A12 and S100A8/9 proteins are biomarkers of articular disease activity in Blau syndrome

    Rheumatology (United Kingdom), Vol. 57, Núm. 7, pp. 1299-1304