Publicaciones en colaboración con investigadores/as de Instituto de Biología y Genética Molecular (11)

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

  2. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

    Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338

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

  2. Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

    Cancers, Vol. 14, Núm. 18

2021

  1. Rad51d aberrant splicing in breast cancer: Identification of splicing regulatory elements and minigene-based evaluation of 53 dna variants

    Cancers, Vol. 13, Núm. 11

2019

  1. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: An ENIGMA report

    Journal of Medical Genetics, Vol. 56, Núm. 7, pp. 453-460

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

2014

  1. Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants

    Human Mutation, Vol. 35, Núm. 1, pp. 53-57

2013

  1. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    PLoS ONE, Vol. 8, Núm. 7

2012

  1. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

    Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315

2011

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

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