Mi-Ae Jang

28PUBLICATIONS
98CO-AUTHORS
NeurogeneticsNeonatologyEpigenetics (incl. genome methylation and epigenomics)Gene and molecular therapyMedical bacteriology
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Publications (28)

|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.

|May 15, 2026
Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing.

|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

|Jan 21, 2026
Genotype-Driven Prognostication in Dilated Cardiomyopathy.

David Hong, Young-Gon Kim, Seung Hyeok Bang

|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

|Dec 22, 2025
Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.

Youn-Ji Hong, Misun Yang, Hyeon Jeong Kwon

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Frequent Collaborators

6 joint publications

Ja-Hyun Jang

4 joint publications

Jong-Won Kim

4 joint publications

You Kyoung Lee

3 joint publications

Yun Sil Chang