Author

Isabelle Denjoy

Hôpital Bichat-Claude-BernardORCID 0000-0002-1786-9461Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biophysics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Approach:deep learning· 1 Assay:DNA methylation· 1 Research Focus:drug response / drug discovery· 1 Assay:electrophysiology· 1 Approach:statistical model· 1

Frequent Co-Authors

Achille Gregoire· 1 shared Antoine LeenhardtiD· 1 shared Asami KashiwaiD· 1 shared Aurélie TholletiD· 1 shared Bárbara Bruna Ribeiro Oliveira-MendesiD· 1 shared Brett M. KronckeiD· 1 shared Carla SpazzoliniiD· 1 shared Dan M. RodeniD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperBiophysics

Achille Gregoire

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2 papers

Recent·Most cited

MeTAL enables multiparametric risk prediction for human KCNH2 variants

Bárbara Bruna Ribeiro Oliveira-Mendes, Elouan Voisin, Maxence Marbouty, Achille Gregoire, Malak Alameh, Jérôme Montnach, Aurélie Thollet, Flavien Charpentier, Isabelle Denjoy, Vincent Probst, Gildas Loussouarn, Isabelle Baró, Michel MDW DE WAARD, Rupamanjari Majumder

MeTAL links KCNH2 variant biophysical properties to ECG phenotypes, revealing nonlinear relationships and improving risk prediction for inherited arrhythmia syndromes.

bioRxiv · May 4, 2026 · PreprintBiophysics

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

Matthew J. O’Neill, Luca Sala, Isabelle Denjoy, Yuko Wada, Krystian A. Kozek, Lia Crotti, Federica Dagradi, Maria‐Christina Kotta, Carla Spazzolini, Antoine Leenhardt, Joe‐Elie Salem, Asami Kashiwa, Seiko Ohno, Ran Tao, Dan M. Roden, , Brett M. Kroncke

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

Genetics in Medicine · Dec 7, 2022Peer-reviewedGenetic & Genomic Medicine