Author

Jung Hwa Hong

Northwestern UniversityORCID 0000-0002-6819-9242Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:machine learning (classical)· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Carina G BiariD· 2 shared Gemma L. CarvilliD· 2 shared Heather C. MeffordiD· 2 shared Jeffrey Dennis CalhouniD· 2 shared Aaron M Geller· 1 shared Aishwarya RamamurthyiD· 1 shared Chengbing WangiD· 1 shared Eleanor Goes· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Carina G BiarORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintAug 9, 2025

EpiPred: A gene-specific machine learning model for classifying missense variants in the epilepsy-related gene STXBP1

Jeffrey Dennis Calhoun, Chengbing Wang, Carina G Biar…·Gemma L. Carvill

EpiPred improves STXBP1 variant interpretation, enabling precision genetic diagnoses and promoting access to targeted precision therapies.

DOI 10.1101/2025.08.09.669488

humanDNA methylation

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GeneticsbioRxivPreprintMay 4, 2023

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy

Hannah C. Happ, Patricia N. Schneider, Jung Hwa Hong…·Gemma L. Carvill

The paper investigates how SCN1A variants in a poison exon cause aberrant splicing, reduced Nav1.1 protein, and epilepsy through RBP interactions.

2 citations

humanlong-read sequencing

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