Publications in collaboration with researchers from Instituto de Biología y Genética Molecular (7)

2024

  1. Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants

    Journal of Pathology, Vol. 262, Núm. 4, pp. 395-409

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

2020

  1. Editorial: RNA Splicing and Backsplicing: Disease and Therapy

    Frontiers in Genetics

2019

  1. Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays

    Journal of Pathology, Vol. 248, Núm. 4, pp. 409-420

2017

  1. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18

    PLoS Genetics, Vol. 13, Núm. 3

2015

  1. Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons

    Human Mutation, Vol. 36, Núm. 2, pp. 210-221

2005

  1. Mutaciones en BRCA1 y BRCA2 en pacientes con historia familiar de cáncer de mama

    Medicina Clinica, Vol. 124, Núm. 1, pp. 10-12