Ja-Hyun Jang

29PUBLICATIONS
140CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Genetic immunologyGene expression (incl. microarray and other genome-wide approaches)Cancer genetics
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Publications (29)

|Jun 18, 2026
Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3-q22.3 Deletion and a Splicing-Altering Synonymous ANK1 Variant.

|Dec 29, 2025
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.

Youn-Ji Hong, Sungsoon Hwang, Ja-Hyun Jang

|Nov 22, 2025
Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.

Jong Kwon Lee, Ja-Hyun Jang, Doo Ri Kim

|Sep 17, 2025
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.

Kyung Sun Park, Sunghwan Shin, Jong-Ho Park

|Jul 23, 2025
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.

Young-Gon Kim, Changhee Ha, Ja-Hyun Jang

|Jul 10, 2025
Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea.

Min Young Chun, Sang Won Seo, Hyemin Jang

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Frequent Collaborators

13 joint publications

Jong-Won Kim

7 joint publications

Mi-Ae Jang

5 joint publications

Young-Gon Kim

4 joint publications

Changhee Ha