PEDRO
PÉREZ SEGURA
Profesor asociado de Ciencias de la Salud
José Alberto
Escudero Valenzuela
Publicaciones en las que colabora con José Alberto Escudero Valenzuela (9)
2024
-
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
-
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
-
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C
Cancers, Vol. 14, Núm. 12
-
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101
-
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
Cancers, Vol. 14, Núm. 18
-
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
2021
2020
-
Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the rad51c gene
Cancers, Vol. 12, Núm. 12, pp. 1-21
2019
-
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