Publikationen in Zusammenarbeit mit Forschern von Hospital Clínico San Carlos de Madrid (8)

2026

  1. Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants

    International Journal of Molecular Sciences, Vol. 27, Núm. 2

  2. Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation

    Journal of Pathology, Vol. 268, Núm. 2, pp. 150-163

2025

  1. Unproductive alternative splicing of ATM exon 7: mapping of critical regulatory elements and identification of 34 spliceogenic variants

    Journal of Molecular Medicine, Vol. 103, Núm. 11-12, pp. 1447-1460

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 Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

    Cancers, Vol. 14, Núm. 12

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

    Cancers, Vol. 14, Núm. 18

  3. 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