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Dive into the research topics where Ja-Hyun Jang is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach
Park, K. S., Shin, S., Park, J. H., Kim, Y. E., Kwon, W. K., So, M. K., Ha, C., Jang, J. H., Lee, T., Ki, C. S., Kim, Y., Lee, K. A., Park, I., Lee, S., Won, H. H. & Kim, J. W., Jan 2026, In: Annals of Laboratory Medicine. 46, 1, p. 94-103 10 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation
Hong, Y. J., Yang, M., Kwon, H. J., Cha, J., Jang, J. H., Wang, S. E., Lee, E. S. & Jang, M. A., Feb 2026, In: Journal of Clinical Laboratory Analysis. 40, 3, e70152.Research output: Contribution to journal › Article › peer-review
Open Access -
Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36
Ahn, J. H., Lee, S., Moon, J., Han, Y., Chang, H., Youn, J., Cho, J. W. & Jang, J. H., 2025, (Accepted/In press) In: European Journal of Human Genetics. 126.Research output: Contribution to journal › Article › peer-review
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Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants
Jang, M. A., Heo, W. Y., Lee, J. K., Kim, J. W., Kim, S. M., Jang, J. H. & Park, H. D., Sep 2025, In: Annals of Laboratory Medicine. 45, 5, p. 530-538 9 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
Clinical spectrum of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia in individuals of Korean ancestry
Kim, J. R., Lee, S., Seo, S. W., Jang, J. H., Suh, Y. L., Park, J. H., Lee, S. Y., Son, H. J., Kwon, H. J., Kim, E. J., Na, D. L., Jang, H. & Kim, H. J., Dec 2025, In: Scientific Reports. 15, 1, 1857.Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Scopus citations