Ja-Hyun Jang - Search Results

Year	Number of Results
2010	4
2011	2
2012	7
2013	1
2014	2
2015	2
2016	5
2017	16
2018	11
2019	13
2020	10
2021	17
2022	17
2023	14
2024	8

1

Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays.

Lee JS, Cho EH, Kim B, Hong J, Kim YG, Kim Y, Jang JH, Lee ST, Kong SY, Lee W, Shin S, Song EY; Clinical Practice Guidelines Committee of the Korean Society for Laboratory Medicine. Lee JS, et al. Among authors: jang jh. Ann Lab Med. 2024 May 1;44(3):195-209. doi: 10.3343/alm.2023.0389. Epub 2024 Jan 15. Ann Lab Med. 2024. PMID: 38221747 Free PMC article. Review.

2

Discovery of BRCA1/BRCA2 founder variants by haplotype analysis.

Kwon WK, Jang HJ, Lee JE, Park YH, Ryu JM, Yu J, Jang JH, Kim JW. Kwon WK, et al. Among authors: jang jh. Cancer Genet. 2022 Aug;266-267:19-27. doi: 10.1016/j.cancergen.2022.05.042. Epub 2022 May 28. Cancer Genet. 2022. PMID: 35671604 Review.

3

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG, Kwon H, Park JH, Nam SH, Ha C, Shin S, Heo WY, Kim HJ, Chung KW, Jang JH, Kim JW, Choi BO. Kim YG, et al. Among authors: jang jh. Brain Commun. 2023 Apr 28;5(3):fcad139. doi: 10.1093/braincomms/fcad139. eCollection 2023. Brain Commun. 2023. PMID: 37180992 Free PMC article.

4

Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.

Kim I, Noh ES, Kim MS, Jang JH, Jeon TY, Choi HW, Cho SY. Kim I, et al. Among authors: jang jh. Medicine (Baltimore). 2023 Feb 10;102(6):e32800. doi: 10.1097/MD.0000000000032800. Medicine (Baltimore). 2023. PMID: 36820543 Free PMC article.

5

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia.

Chun MY, Heo NJ, Seo SW, Jang H, Suh YL, Jang JH, Kim YE, Kim EJ, Moon SY, Jung NY, Lee SM, Kim HJ. Chun MY, et al. Among authors: jang jh. Front Neurol. 2023 Mar 7;14:1131888. doi: 10.3389/fneur.2023.1131888. eCollection 2023. Front Neurol. 2023. PMID: 36959818 Free PMC article.

6

Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.

Kim JA, Kwon WK, Kim JW, Jang JH. Kim JA, et al. Among authors: jang jh. J Hum Genet. 2022 Oct;67(10):601-606. doi: 10.1038/s10038-022-01044-x. Epub 2022 May 24. J Hum Genet. 2022. PMID: 35606502 Review.

7

Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.

Kim YM, Seo GH, Jung E, Jang JH, Kim SZ, Lee BH. Kim YM, et al. Among authors: jang jh. J Hum Genet. 2018 Mar;63(3):383-386. doi: 10.1038/s10038-017-0386-7. Epub 2017 Dec 13. J Hum Genet. 2018. PMID: 29235540 Review.

8

Clinical and genetic analyses of patients with lateralized overgrowth.

Kim YM, Lee Y, Choi Y, Choi IH, Heo SH, Choi JM, Do HS, Jang JH, Yum MS, Yoo HW, Lee BH. Kim YM, et al. Among authors: jang jh. BMC Med Genomics. 2022 Sep 30;15(1):206. doi: 10.1186/s12920-022-01362-1. BMC Med Genomics. 2022. PMID: 36175890 Free PMC article.

9

An Updated Comprehensive Review on Vitamin A and Carotenoids in Breast Cancer: Mechanisms, Genetics, Assessment, Current Evidence, and Future Clinical Implications.

Kim JA, Jang JH, Lee SY. Kim JA, et al. Among authors: jang jh. Nutrients. 2021 Sep 10;13(9):3162. doi: 10.3390/nu13093162. Nutrients. 2021. PMID: 34579037 Free PMC article. Review.

10

Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.

Heo WY, Jang SY, Park TK, Ki CS, Kim JW, Kim DK, Jang JH. Heo WY, et al. Among authors: jang jh. Mol Genet Genomic Med. 2023 Sep;11(9):e2240. doi: 10.1002/mgg3.2240. Epub 2023 Jul 17. Mol Genet Genomic Med. 2023. PMID: 37461200 Free PMC article.

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