Author

Marion Masingue

Assistance Publique – Hôpitaux de ParisORCID 0000-0002-4898-709XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aleksandra Nadaj‐PaklezaiD· 1 shared Alessandro BertiniiD· 1 shared Alix de BecdelièvreiD· 1 shared Amandine Pauset· 1 shared André MégarbanéiD· 1 shared Andrea CorteseiD· 1 shared Annabelle ChaussenotiD· 1 shared Anne‐Sophie LiaiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aleksandra Nadaj‐PaklezaORCID

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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

Bi-allelic mutations in KCTD11 cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth disease

Jihane Gadacha, Zahraa Haidar, Nathalie Roëckel, Amandine Pauset, Christel Castro, Coralie Provost, Zeinab Hamzé, Camille Humbert, Karine Bertaux, Nicolas Lenfant, Marion Masingue, Alix de Becdelièvre, Marina Konyukh, Nathalie Bonello‐Palot, Anne‐Sophie Lia, , Valérie Delague

This paper identifies bi-allelic mutations in KCTD11 as a cause of autosomal recessive intermediate Charcot-Marie-Tooth disease and elucidates its role in myelin homeostasis through molecular mechanisms.

bioRxiv · Jun 30, 2025 · PreprintGenetics