Ja-Hyun Jang

28PUBLICATIONS
136CO-AUTHORS
Neurology and neuromuscular diseasesNeurogeneticsGene mappingNeonatologyEpigenetics (incl. genome methylation and epigenomics)
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Publications (28)

|Aug 07, 2026
A Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia mimicking Multiple Sclerosis.

|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.

|Jun 15, 2026
Correction to: Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.

|Apr 02, 2026
A Novel Pathogenic CHD7 Splice-Site Variant in a Neonate with CHARGE Syndrome Identified by Blood RNA Analysis.

Sooho Yu, Ja-Hyun Jang, Misun Yang

|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

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Frequent Collaborators

13 joint publications

Jong-Won Kim

6 joint publications

Mi-Ae Jang

5 joint publications

Young-Gon Kim

4 joint publications

Changhee Ha