Lara Miralles-Sanoguera

Valladolid, CL 47003, Spain

Last Updated: 09/26/2026

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Found 16 publications

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

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.

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.

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

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.

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.

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

Splicing Dysregulation of Non-Canonical GC-5' Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2.

Splicing Dysregulation of Non-Canonical GC-5' Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2.

Journal: Cancers
Published: September 16, 2024

Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.

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

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

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

Journal: Clinical chemistry
Published: March 09, 2023

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

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

Journal: Cancers
Published: August 05, 2022

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

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

Journal: Cancers
Published: May 19, 2022

Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.

Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.

Journal: The Journal of pathology
Published: March 24, 2022

Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.

Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.

Journal: Cancers
Published: December 22, 2021
Showing 1-12 of 16

Last Updated: 09/26/2026