Ja-hyun H. Jang
Seoul, Republic of Korea
Last Updated: 09/26/2026
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Found 162 publications
USH2A-Associated Retinitis Pigmentosa in Koreans: Molecular Genetics and Clinical Characteristics.
Journal: American journal of ophthalmology
Published: June 23, 2026
Correction to: Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.
Journal: Journal of clinical immunology
Published: June 15, 2026
A Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia mimicking Multiple Sclerosis.
Journal: Dementia and neurocognitive disorders
Published: May 11, 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.
Journal: Journal of clinical laboratory analysis
Published: February 26, 2026
Identification of a Pathogenic RECQL4 1.6-kb Deletion-Insertion in a Neonate with Atypical Skeletal Phenotype of Baller-Gerold Syndrome Using Rapid Whole-Genome Sequencing.
Journal: Annals of laboratory medicine
Published: February 22, 2026
Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches.
Journal: Journal of human genetics
Published: February 19, 2026
Clinical variant interpretation comparing two saturation genome editing-based functional studies for BRCA2.
Journal: Frontiers in genetics
Published: February 04, 2026
Lewis antigen and antibody testing as practical first-line approaches for detecting CA19-9 non-producers.
Journal: Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
Published: January 28, 2026
Genetic landscape of hereditary spastic paraplegias in the Korean population.
Journal: Scientific reports
Published: December 13, 2025
A Novel Pathogenic CHD7 Splice-Site Variant in a Neonate with CHARGE Syndrome Identified by Blood RNA Analysis.
Journal: Annals of laboratory medicine
Published: October 10, 2025
Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.
Journal: Journal of clinical immunology
Published: July 08, 2025
Last Updated: 09/26/2026