Author

Jonathan Klonowski

University of PittsburghORCID 0000-0003-0776-5658Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:differential expression· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Cecilia W. Y. LoiD· 3 shared Dennis KostkaiD· 3 shared Zeynep Coban‐AkdemiriD· 3 shared Archana RaiiD· 2 shared A. J. AgopianiD· 1 shared Benjamin J. GlennoniD· 1 shared Bo YuaniD· 1 shared Bruce D. GelbiD· 1 shared

Activity by Year

2023-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Cecilia W. Y. LoORCID

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3 papers

Recent·Most cited

Analysis of Premature Termination Codons Predicted to Escape Nonsense Mediated Decay Identifies Novel Genes, Pathways, and Networks Contributing to an Oligogenic Etiology of Congenital Heart Disease

Jonathan Klonowski, Madhavi K. Ganapathiraju, Archana Rai, Benjamin J. Glennon, Zeynep Coban‐Akdemir, Dennis Kostka, Cecilia W. Y. Lo

The paper analyzes PTCs in CHD patients to identify genes and pathways contributing to an oligogenic etiology of congenital heart disease.

medRxiv · Aug 4, 2025 · PreprintGenetic & Genomic Medicine

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach

Archana Rai, Jonathan Klonowski, Bo Yuan, Karen J. Coveler, Zain Dardas, Iman Egab, Jiaoyang Xu, Philip J. Lupo, A. J. Agopian, Dennis Kostka, Cecilia W. Y. Lo, S. Stephen Yi, Bruce D. Gelb, Christine E. Seidman, Eric Boerwinkle, , Zeynep Coban‐Akdemir

The paper identifies trans-heterozygous digenic variants in laterality defect genes using exome/genome sequencing data from CHD cohorts, finding significant enrichment in laterality cases compared to controls.

The American Journal of Human Genetics · Jun 20, 2025Peer-reviewedGenetic & Genomic Medicine

aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants

Jonathan Klonowski, Qianqian Liang, Zeynep Coban‐Akdemir, Cecilia W. Y. Lo, Dennis Kostka

aenmd annotates PTC-containing transcript-variant pairs for predicted NMD escape, identifying variants that may cause dominant-negative or gain-of-function effects.

Bioinformatics · Sep 1, 2023Peer-reviewedBioinformatics