Publicaciones 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. PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

    npj Breast Cancer, Vol. 9, Núm. 1

  6. 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

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

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

2020

  1. Baseline predictors for visual acuity loss during observation in diabetic macular oedema with good baseline visual acuity

    Acta Ophthalmologica, Vol. 98, Núm. 7, pp. e801-e806

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

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

  3. 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. Erratum to: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia (Nature Communications, (2018), 9, 1, (1340), 10.1038/s41467-018-03178-z)

    Nature Communications

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

    Nature Communications, Vol. 10, Núm. 1

  3. Real-world outcomes of non-responding diabetic macular edema treated with continued anti-VEGF therapy versus early switch to dexamethasone implant: 2-year results

    Acta Diabetologica, Vol. 56, Núm. 12, pp. 1341-1350

2018

  1. Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

    Nature Communications, Vol. 9, Núm. 1