Publicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (5)

2023

  1. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

    The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106

2020

  1. Molecular characterization of Spanish patients with MECP2 duplication syndrome

    Clinical Genetics, Vol. 97, Núm. 4, pp. 610-620

  2. Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome

    Mitochondrion, Vol. 52, pp. 157-162

  3. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability

    Genes, Vol. 11, Núm. 1

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