Publicacións en colaboración con investigadores/as de Hannover Medical School (41)

2024

  1. Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort

    Pediatric Blood and Cancer

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. A second update on mapping the human genetic architecture of COVID-19

    Nature

  3. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

    British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294

2022

  1. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

    Journal of Clinical Oncology, Vol. 40, Núm. 14, pp. 1529-1541

  2. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Communications biology, Vol. 5, Núm. 1, pp. 1061

  3. Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))

    European journal of human genetics : EJHG

  4. Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer

    Human molecular genetics, Vol. 31, Núm. 15, pp. 2483-2497

  5. Polygenic risk modeling for prediction of epithelial ovarian cancer risk

    European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362

2021

  1. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Nature Communications, Vol. 12, Núm. 1

  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. Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))

    Nature communications

  4. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

    American Journal of Human Genetics, Vol. 108, Núm. 7, pp. 1190-1203

  5. Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

    Familial Cancer, Vol. 20, Núm. 1, pp. 67-73

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

  3. Ovarian and Breast Cancer Risks Associated with Pathogenic Variants in RAD51C and RAD51D

    Journal of the National Cancer Institute, Vol. 112, Núm. 12, pp. 1242-1250

  4. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Genetics in Medicine, Vol. 22, Núm. 10, pp. 1653-1666

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