Author

Jihoon G. Yoon

Boston Children's HospitalORCID 0000-0002-4401-7803Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Ana C. Onuchic-WhitfordiD· 1 shared Annapurna PoduriiD· 1 shared Anya GreenbergiD· 1 shared Christopher Lund O'ConnoriD· 1 shared Chul‐Hwan LeeiD· 1 shared Deciphering Developmental Disorders Study· 1 shared Dohyun HaniD· 1 shared Dongwon LeeiD· 1 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 16 mutual co-author links

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1 shared paperGenomics

Ana C. Onuchic-WhitfordORCID

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3 papers

Recent·Most cited

The landscape of allele-specific expression in human kidneys

Ana C. Onuchic-Whitford, Junmo Sung, Eric D. Sakkas, Michelle T. McNulty, Victoria Mezger, Christopher Lund O'Connor, Anya Greenberg, Jihoon G. Yoon, Sowmya Badina, Laura H. Mariani, Markus Bitzer, Matthew Gordon Sampson, Dongwon Lee

This study maps allele-specific expression in human kidney disease, finding increased glomerular ASE associated with better disease outcomes.

Science Advances · Oct 2, 2026Peer-reviewedGenomics

A predictive framework for stop-loss variants with C-terminal extensions

Jihoon G. Yoon, S. Lee, Yoonjung Kim, Heon Yung Gee, Min Goo Lee, Kyung-A Lee

The paper develops TAILVAR, a machine-learning classifier to predict the functional impact of stop-loss variants by integrating multi-omics features, and shows it outperforms existing tools.

Nucleic Acids Research · Jan 14, 2026Peer-reviewedGenetics

De novo HDAC3 variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorder

Jihoon G. Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, Hyun Yong Koh, Annapurna Poduri, Deciphering Developmental Disorders Study, Jung Min Ko, Dohyun Han, Jong‐Hee Chae, Chul‐Hwan Lee

This study identifies de novo HDAC3 variants in patients with neurodevelopmental disorders and shows they cause reduced HDAC activity, disrupted protein interactions, and impaired nuclear localization.

medRxiv · Jan 29, 2024 · PreprintGenetic & Genomic Medicine