Publications by the researcher in collaboration with Eladio Velasco (5)

2022

  1. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants

    Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334

2020

  1. Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the rad51c gene

    Cancers, Vol. 12, Núm. 12, pp. 1-21

2019

  1. Minigene splicing assays identify 12 spliceogenic variants of BRCA2 exons 14 and 15

    Frontiers in Genetics, Vol. 10, Núm. MAY

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

  2. Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants

    Breast Cancer Research and Treatment, Vol. 171, Núm. 1, pp. 53-63