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Lara Sanoguera-Miralles

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Assistant Professor

Universidad de Valladolid

Spain

Research Interests

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Alteration of splicing patterns in breast cancer susceptibility genes: Functional analysis by hybrid minigenes

Open Date: 2019-07-01

Close Date: 2023-07-01

Articles (8)

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2026

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2025

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2025

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2025

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2024

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2023

Collaborators (6)

Elena Bueno Martínez

Profesora Ayudante Doctora

Universidad de Valladolid

SPAIN

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Maaike P.G. Vreeswijk

Associate Professor

Leiden University Medical Center

NETHERLANDS

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Emanuele Buratti

Contracted Professor- Transcriptomic Course

Università degli Studi di Torino

ITALY

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Eladio Andrés Velasco-Sampedro

SPAIN

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Peter Devilee

Professor in Tumor Genetics, section leader

Leiden University Medical Center

NETHERLANDS

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María del Mar Infante Sanz

Associate Professor

Universidad de Valladolid

SPAIN

View details

ApplyKite TwinLearns as you apply

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Lara Sanoguera-Miralles

Research Interests

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Recent Grants

Articles (8)

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

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

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

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

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

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

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

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

Collaborators (6)

Elena Bueno Martínez

Maaike P.G. Vreeswijk

Emanuele Buratti

Eladio Andrés Velasco-Sampedro

Peter Devilee

María del Mar Infante Sanz

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