Author

Joe‐Elie Salem

InsermORCID 0000-0002-0331-3307Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 5 Research Focus:differential expression· 2 Assay:electronic health records· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Brett M. KronckeiD· 4 shared Dan M. RodeniD· 4 shared Matthew J. O’NeilliD· 3 shared Yuko WadaiD· 3 shared Andrew Michael GlazeriD· 2 shared Asami KashiwaiD· 2 shared Carla SpazzoliniiD· 2 shared Devyn MitchelliD· 2 shared

Activity by Year

2019-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetics

Brett M. KronckeORCID

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5 papers

Recent·Most cited

Patient-derived Cellular Models of Polygenic Scores: Application to Long QT Syndrome

Devyn Mitchell, Matthew J. O’Neill, Loren R. Vanags, Nidhi Patel, Theresa Strickland, Giovanni Davagustto, Moore Benjamin Shoemaker, Joe‐Elie Salem, Brett M. Kroncke

The paper uses patient-derived iPSC-CMs to show that polygenic scores influence cardiac electrophysiology and drug response in Long QT Syndrome.

bioRxiv · Aug 5, 2025 · PreprintGenetics

A polygenic predictor of baseline QTc is associated with sotalol-induced QT prolongation

Megan Cummins Lancaster, Giovanni Davogustto, Edi Prifti, Claire Perret, Christian Funck‐Brentano, Dan M. Roden, Joe‐Elie Salem

The paper develops a polygenic risk score for baseline QTc and shows it predicts sotalol-induced QT prolongation in a cohort of healthy subjects.

Circulation · Dec 9, 2024Peer-reviewedGenetic & Genomic Medicine

Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification

Matthew J. O’Neill, Chai‐Ann Ng, Takanori Aizawa, Luca Sala, Sahej Bains, Annika Winbo, Rizwan Ullah, Qianyi Shen, Chek-Ying Tan, Krystian A. Kozek, Loren R. Vanags, Devyn Mitchell, Alex Shen, Yuko Wada, Asami Kashiwa, , Brett M. Kroncke

This paper evaluates how functional variant data and penetrance estimates improve risk stratification for LQTS in KCNH2 missense variant carriers.

Circulation · Sep 24, 2024Peer-reviewedGenetic & Genomic Medicine

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

Deep Mutational Scan of a cardiac sodium channel voltage sensor

Andrew Michael Glazer, Brett M. Kroncke, Kenneth A. Matreyek, Tao Yang, Yuko Wada, Tiffany Shields, Joe‐Elie Salem, Douglas M. Fowler, Dan M. Roden

The paper performs a deep mutational scan of SCN5A variants to assess their functional impact, identifying 40 gain and 33 loss of function variants with high accuracy.

bioRxiv · Sep 18, 2019 · PreprintGenetics