Publicacións en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (30)

2024

  1. Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis

    eBioMedicine, Vol. 100

  2. Comparison of the ABC and ACMG systems for variant classification

    European Journal of Human Genetics

2023

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

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

2022

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

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

  2. 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

  3. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  4. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

  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. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

    Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737

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. 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. Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

    Scientific Reports, Vol. 9, Núm. 1

  2. Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

    Cancer Cell, Vol. 35, Núm. 2, pp. 256-266.e5

  3. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  4. Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)

    Nature Communications

  5. Shared heritability and functional enrichment across six solid cancers

    Nature Communications, Vol. 10, Núm. 1

2018

  1. A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk

    Cancer Research, Vol. 78, Núm. 18, pp. 5419-5430

  2. Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group

    JCO Precision Oncology, Vol. 2