Author

Samira Ait-El-Mkadem

Centre National de la Recherche ScientifiqueORCID 0000-0001-7204-7826Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Sylvie BannwarthiD· 2 shared Véronique Paquis‐FlucklingeriD· 2 shared Aleksandra Nadaj‐PaklezaiD· 1 shared Annabelle ChaussenotiD· 1 shared Béatrice LannesiD· 1 shared Cécile RouzieriD· 1 shared Chloe Prosper· 1 shared Elamine ZeregiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Sylvie BannwarthORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Challenging mtDNA tRNA Variant Guidelines: Emphasizing Single-Cell Analysis through Four Novel Variants

Chloe Prosper, Elamine Zereg, Annabelle Chaussenot, Sylvie Bannwarth, Béatrice Lannes, Nathalie Streichenberger, Elsa Kaphan, Aleksandra Nadaj‐Pakleza, Villa Luisa, Sabrina Sacconi, Marion Masingue, Éléonore Birgy, Francou Bruno, Samira Ait-El-Mkadem, Konstantina Fragaki, , Cécile Rouzier

This study reclassifies four novel mtDNA variants using single-cell NGS analysis, highlighting the need for functional evidence and standardized criteria in variant interpretation.

Mitochondrion · May 17, 2026Peer-reviewedGenetic & Genomic Medicine

Accelerate the discovery of genetic variants in mitochondrial diseases with VIOLA: Variant PrIOritization using Latent space

Justine Labory, Youssef Boulaimen, Jasmine Singh, Samira Ait-El-Mkadem, Véronique Paquis‐Flucklinger, Sylvie Bannwarth, Silvia Bottini

VIOLA prioritizes pathogenic variants in mitochondrial diseases using a variational autoencoder and outlier detection, outperforming existing methods in a patient cohort.

Briefings in Bioinformatics · Nov 1, 2025Peer-reviewedBioinformatics