Publicaciones en colaboración con investigadores/as de Leiden University Medical Center (8)

2020

  1. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

    Journal of Molecular Diagnostics, Vol. 22, Núm. 9, pp. 1205-1215

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2015

  1. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

    JAMA - Journal of the American Medical Association, Vol. 313, Núm. 13, pp. 1347-1361

2012

  1. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    Cancer Epidemiology Biomarkers and Prevention, Vol. 21, Núm. 4, pp. 645-657

  2. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Human Mutation, Vol. 33, Núm. 4, pp. 690-702

  3. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    European Journal of Medical Genetics, Vol. 55, Núm. 6-7, pp. 404-413

2011

  1. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

    Journal of the National Cancer Institute, Vol. 103, Núm. 2, pp. 105-116

2010

  1. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction

    Cancer Research, Vol. 70, Núm. 23, pp. 9742-9754