Author

Aleksandra Nadaj‐Pakleza

Centre Hospitalier Universitaire d'AngersORCID 0009-0002-7212-3918Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:metabolomics· 1 Assay:proteomics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

A. Madelaine· 1 shared Anaïs Chanut· 1 shared Annabelle ChaussenotiD· 1 shared Anne‐Sophie ArmandiD· 1 shared Apolline ImbardiD· 1 shared Arnaud Hubas· 1 shared Béatrice LannesiD· 1 shared Cécile RouzieriD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

A. Madelaine

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineMitochondrionPeer-reviewedMay 17, 2026

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

Chloe Prosper, Elamine Zereg, Annabelle Chaussenot…·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.

DOI 10.1016/j.mito.2026.102170

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMar 3, 2026

Novel variants in ryanodine receptor type 3 predispose to acute rhabdomyolysis due to impaired autophagy

Hortense de Calbiac, Laure Caccavelli, Solène Renault…·Pascale de Lonlay

This study identifies rare RYR3 variants causing recurrent rhabdomyolysis by impairing autophagy and mitochondrial function, highlighting RyR3's role in muscle stress adaptation.

DOI 10.64898/2026.02.27.26345848

humanzebrafish

𝕏 PostBluesky