Publicacións en colaboración con investigadores/as de Consejo Superior de Investigaciones Científicas (4)

2024

  1. Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations

    Clinica Chimica Acta, Vol. 552

  2. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

    Database : the journal of biological databases and curation, Vol. 2024

2022

  1. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants

    Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101

2013

  1. Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

    Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618