Author

Antoine Leenhardt

Université Paris CitéORCID 0000-0001-7368-4528Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Assay:DNA methylation· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Dan M. RodeniD· 2 shared Matthew J. O’NeilliD· 2 shared Ahmad S. AminiD· 1 shared Alex LipoviD· 1 shared Ammar Al‐ChalabiiD· 1 shared Andrew A. GraceiD· 1 shared Andrew Michael GlazeriD· 1 shared Apichai KhongphatthanayothiniD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Dan M. RodenORCID

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2 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

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 7, 2022

Continuous Bayesian Variant Interpretation Accounts for Incomplete Penetrance among Mendelian Cardiac Channelopathies

Matthew J. O’Neill, Luca Sala, Isabelle Denjoy…·Brett M. Kroncke

The paper develops Bayesian models to estimate variant penetrance in Mendelian cardiac channelopathies, revealing continuous penetrance distributions and structural insights.

19 citations

humanDNA methylation

𝕏 PostBluesky