Eladio A. Sampedro-Velasco
Valladolid, CL, Spain
Last Updated: 09/26/2026
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Found 14 publications
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.
Journal: Journal of medical genetics
Published: January 13, 2026
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.
Journal: International journal of molecular sciences
Published: November 06, 2025
Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.
Journal: The Journal of pathology
Published: May 08, 2025
Unproductive alternative splicing of ATM exon 7: mapping of critical regulatory elements and identification of 34 spliceogenic variants.
Journal: Journal of molecular medicine (Berlin, Germany)
Published: March 24, 2025
β2-Chimaerin Deficiency Favors Polyp Growth in the Colon of ApcMin/+ Mice.
Journal: Molecules (Basel, Switzerland)
Published: December 02, 2024
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Journal: Human genomics
Published: November 15, 2024
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.
Journal: NPJ genomic medicine
Published: October 11, 2024
β2-Chimaerin, a GTPase-Activating Protein for Rac1, Is a Novel Regulator of Hepatic Insulin Signaling and Glucose Metabolism.
Journal: Molecules (Basel, Switzerland)
Published: October 10, 2024
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.
Journal: The Journal of pathology
Published: August 30, 2023
Last Updated: 09/26/2026