Publications by the researcher in collaboration with Pedro Pérez Segura (3)

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

2018

  1. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study

    Human Mutation, Vol. 39, Núm. 9, pp. 1155-1160

2011

  1. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

    Human Genetics, Vol. 130, Núm. 5, pp. 685-699