Author

Ju Hyuen Cha

Seoul National University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Research Focus:gene regulatory network inference· 3 Organism:human· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:statistical model· 1

Frequent Co-Authors

Jae‐Jin SongiD· 3 shared Jun Ho LeeiD· 3 shared Sang‐Yeon LeeiD· 3 shared Won Hoon ChoiiD· 3 shared Yejin YuniD· 3 shared Jong‐Hee ChaeiD· 2 shared Seung Ha OhiD· 2 shared Sung Ho JungiD· 2 shared

Activity by Year

2023-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Jae‐Jin SongORCID

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3 papers

Recent·Most cited

Comprehensive Genetic Profiling of Sensorineural Hearing Loss Using an Integrative Diagnostic Approach

Sang‐Yeon Lee, Seungbok Lee, Seongyeol Park, Sung Ho Jung, Yejin Yun, Won Hoon Choi, Ju Hyuen Cha, Hongseok Yun, Sangmoon Lee, Myung‐Whan Suh, Moo Kyun Park, Jae‐Jin Song, Byung Yoon Choi, Jun Ho Lee, Tong Mook Kang, , Jong‐Hee Chae

This study uses whole-genome sequencing and functional assays to improve genetic diagnosis of sensorineural hearing loss, achieving a 55.6% diagnostic yield through comprehensive genomic profiling.

Cell Reports Medicine · Jul 1, 2025Peer-reviewedGenetic & Genomic Medicine

CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency

Yi Hwalin, Yejin Yun, Won Hoon Choi, Hye‐Yeon Hwang, Ju Hyuen Cha, Heeyoung Seok, Jae‐Jin Song, Jun Ho Lee, Seung Ha Oh, Sang‐Yeon Lee, Daesik Kim

The paper develops CRISPR-based strategies to correct a complex genomic rearrangement in EYA1 linked to haploinsufficiency, showing successful gene expression restoration in patient-derived cells.

medRxiv · Nov 14, 2023 · PreprintGenetic & Genomic Medicine

Adenine base editing corrects point mutation in mitochondrial single-stranded binding protein (SSBP1) to improve mitochondrial function

Ju Hyuen Cha, Seok‐Hoon Lee, Yejin Yun, Won Hoon Choi, Hansol Koo, Sung Ho Jung, Ho Byung Chae, Dae Hee Lee, Seok Jae Lee, Dong Hyun Jo, Jeong Hun Kim, Jae‐Jin Song, Jong‐Hee Chae, Jun Ho Lee, Seung Ha Oh, , Sang‐Yeon Lee

This study corrects a SSBP1 mutation using adenine base editors, improving mitochondrial function but with trade-offs between editing efficacy and off-target risks.

medRxiv · Nov 2, 2023 · PreprintGenetic & Genomic Medicine