Author

Konstantina Fragaki

Centre National de la Recherche Scientifique

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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

Cécile RouzieriD· 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

Cécile RouzierORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

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, Lucie S Taylor, Andrew Michael Frey, Michael G. Nelson, Paulina Castañeda-Támez, Emmanuelle C. Genin, Richard C. Caswell, Abeer Dannoura, Hanan E. Shamsheldin, Konstantina Fragaki, Cécile Rouzier, Langping He, Mahmoud R. Fassad, , Robert William Taylor

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

medRxiv · Oct 19, 2026 · PreprintGenetic & Genomic Medicine

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