Alexandra Martins

12PUBLICATIONS
165CO-AUTHORS
Cancer geneticsPredictive and prognostic markersGene expression (incl. microarray and other genome-wide approaches)Proteomics and metabolomicsMolecular targets
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Publications (12)

|May 14, 2026
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

|Mar 19, 2026
Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.

Nicholas Zeuzem, Manon Quilan, Mev Dominguez-Valentin

|Jun 05, 2025
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.

Marie-Pierre Buisine, Christine Bellanne-Chantelot, Nadège Calmels

|Jul 14, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Lenka Stolarova, Petra Kleiblova, Petra Zemankova

|Oct 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

Raphaël Leman, Béatrice Parfait, Dominique Vidaud

|Sep 16, 2022
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.

Laëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill

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Frequent Collaborators

4 joint publications

Omar Soukarieh

4 joint publications

Sandrine M Caputo

3 joint publications

Mev Dominguez-Valentin

3 joint publications

Pascaline Gaildrat