Author

Krystian A. Kozek

Vanderbilt University Medical CenterORCID 0000-0002-6951-9404Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:electronic health records· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Brett M. KronckeiD· 3 shared Dan M. RodeniD· 3 shared Andrew Michael GlazeriD· 2 shared Asami KashiwaiD· 2 shared Björn C. KnollmanniD· 2 shared Carla SpazzoliniiD· 2 shared Chai‐Ann NgiD· 2 shared Devyn MitchelliD· 2 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Brett M. KronckeORCID

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3 papers

Recent·Most cited

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

High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KCNH2

Krystian A. Kozek, Andrew Michael Glazer, Chai‐Ann Ng, Daniel J. Blackwell, Christian L. Egly, Loren R. Vanags, Marcia A. Blair, Devyn Mitchell, Kenneth A. Matreyek, Douglas M. Fowler, Björn C. Knollmann, Jamie I. Vandenberg, Dan M. Roden, Brett M. Kroncke

This paper introduces a high-throughput method to screen KCNH2 variants for trafficking defects, validating it with multiple assays and showing its utility for identifying loss-of-function variants.

Heart Rhythm · Jun 6, 2020Peer-reviewedGenetics