Alexandra Martins

INSERM

France

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Articles (14)

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2025

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2024

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2023

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2022

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2022

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2020

Collaborators (10)

Troy Dumenil

QIMR Berghofer Medical Research Institute

AUSTRALIA

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Marco Montagna

Istituto Oncologico Veneto

ITALY

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Pascaline Gaildrat

PhD, Assistant Professor (MCU)

FRANCE

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FEI CHEN

Assistant Professor

University of Southern California

UNITED STATES

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Christine Bellanné-Chantelot

Sorbonne Université

FRANCE

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Mariarosaria Calvello

European Institute of Oncology

ITALY

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Agathe Ricou

Centre François Baclesse Centre de Lutte Contre le Cancer

FRANCE

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Marketa Janatova

Assistanf Professor and researcher

Přírodovědecká Fakulta, Univerzita Karlova

CZECH REPUBLIC

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Jenny Lord

University of Southampton

UNITED KINGDOM

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Lidia Feliubadaló

SPAIN

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Alexandra Martins

Research Interests

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Articles (14)

RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network

Predicting the impact of rare variants on RNA splicing in CAGI6

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of <i>MSH2</i> variants causing in-frame splicing alterations

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

Implications of CLSPN Variants in Cellular Function and Susceptibility to Cancer

Collaborators (10)

Troy Dumenil

Marco Montagna

Pascaline Gaildrat

FEI CHEN

Christine Bellanné-Chantelot

Mariarosaria Calvello

Agathe Ricou

Marketa Janatova

Jenny Lord

Lidia Feliubadaló

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