Author

Cécile Rouzier

Centre National de la Recherche ScientifiqueORCID 0000-0002-2969-1904Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Konstantina Fragaki· 2 shared Véronique Paquis‐FlucklingeriD· 2 shared A. A. M. MorrisiD· 1 shared Abeer DannouraiD· 1 shared Alain Fouilhoux· 1 shared Aleksandra Nadaj‐PaklezaiD· 1 shared Andrew Michael FreyiD· 1 shared Annabelle ChaussenotiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Konstantina Fragaki

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 19, 2026

Bi-allelic UQCC1 variants impair mitochondrial complex III assembly causing early-onset mitochondrial disease

Sarah J. Smith, Samira Ait-El-Mkadem Saadi, Jamie K. Leighton…·Robert William Taylor

This study identifies biallelic UQCC1 variants as a cause of early-onset mitochondrial disease by impairing complex III assembly and function.

DOI 10.64898/2026.10.19.26365523

humanproteomics

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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

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