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Alexandra Martins

INSERM

France

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Research Interests

Biostatistics

90%

Cell Biology

40%

Medical Science

60%

Genomic

50%

Rna Splicing

50%

Next-generation Sequencing

40%

Transcriptomic

30%

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Articles14

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

Article Link

Year:

2025

Predicting the impact of rare variants on RNA splicing in CAGI6

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Year:

2024

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

Article Link

Year:

2023

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

Article Link

Year:

2023

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

Article Link

Year:

2022

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

Article Link

Year:

2022

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

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Year:

2022

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.

Article Link

Year:

2021

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

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Year:

2020

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

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Year:

2020

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

Article Link

Year:

2020

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

Article Link

Year:

2020

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

Article Link

Year:

2020

Implications of CLSPN Variants in Cellular Function and Susceptibility to Cancer

Article Link

Year:

2020

Collaborators10

Troy Dumenil

QIMR Berghofer Medical Research Institute

AUSTRALIA

Marco Montagna

Istituto Oncologico Veneto

ITALY

Pascaline Gaildrat

PhD, Assistant Professor (MCU)

FRANCE

FEI CHEN

Assistant Professor

University of Southern California

UNITED STATES

Christine Bellanné-Chantelot

Sorbonne Université

FRANCE

Mariarosaria Calvello

European Institute of Oncology

ITALY

Agathe Ricou

Centre François Baclesse Centre de Lutte Contre le Cancer

FRANCE

Marketa Janatova

Assistanf Professor and researcher

Přírodovědecká Fakulta, Univerzita Karlova

CZECH REPUBLIC

Jenny Lord

University of Southampton

UNITED KINGDOM

Lidia Feliubadaló

SPAIN

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