Author

Éric Charpentier

Centre National de la Recherche ScientifiqueORCID 0000-0002-8571-7603Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:whole-genome sequencing· 2 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Christian Dina CiD· 3 shared Estelle BaroniD· 3 shared Jean‐Jacques SchottiD· 3 shared Richard RedoniD· 3 shared Jean‐François DeleuzeiD· 2 shared Matilde KarakachoffiD· 2 shared Simon LecointeiD· 2 shared Stéphanie BonnaudiD· 2 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Christian Dina CORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 10, 2026

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

Alex Lipov, Manon Baudic, Pierre Lindenbaum…·Connie R. Bezzina

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

DOI 10.64898/2026.07.07.26356386

humanwhole-genome sequencing

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GeneticsbioRxivPreprintFeb 3, 2022

Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe

Isabel Alves, Joanna Giemza, Michaël G. B. Blum…·Christian Dina C

The paper analyzes genetic structure in Brittany and the Loire basin to understand Western Europe's demographic history, finding increased population differentiation linked to steppe and Neolithic ancestry.

7 citations

humanwhole-genome sequencing

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GenomicsCirculation Genomic and Precision MedicinePeer-reviewedOct 1, 2019

Genetic association analyses highlight IL6, ALPL, and NAV1 as three new susceptibility genes underlying calcific aortic valve stenosis

Sébastien Thériault, Christian Dina C, David Messika–Zeitoun…·Sylviane Vol

This study identifies three new susceptibility genes for calcific aortic valve stenosis through GWAS and TWAS, highlighting roles in inflammation, mineralization, and blood vessel integrity.

90 citations

humanGWAS summary statistics

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