Publications by the researcher in collaboration with ELADIO ANDRES VELASCO SAMPEDRO (8)

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

2018

  1. Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome

    Frontiers in Genetics, Vol. 9, Núm. JAN

  2. Identification of eight spliceogenic variants in BRCA2 Exon 16 by minigene assays

    Frontiers in Genetics, Vol. 9, Núm. MAY

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