Publications by the researcher in collaboration with MARIA EUGENIA FRAILE BETHENCOURT (4)

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