Jang JH - Search Results

1

Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.

Jang MA, Lee JK, Park JH, Hwang S, Kim YG, Kim JW, Hong YJ, Kim SJ, Jang JH. Jang MA, et al. Among authors: jang jh. Sci Rep. 2024 Oct 24;14(1):25119. doi: 10.1038/s41598-024-76509-4. Sci Rep. 2024. PMID: 39448676 Free PMC article.

2

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C, Kim JW, Jang JH. Ha C, et al. Among authors: jang jh. Genes (Basel). 2021 Aug 25;12(9):1308. doi: 10.3390/genes12091308. Genes (Basel). 2021. PMID: 34573290 Free PMC article.

3

Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.

Shin S, Lee J, Kim YG, Ha C, Park JH, Kim JW, Lee J, Jang JH. Shin S, et al. Among authors: jang jh. Pediatr Neurol. 2023 Dec;149:44-52. doi: 10.1016/j.pediatrneurol.2023.09.003. Epub 2023 Sep 9. Pediatr Neurol. 2023. PMID: 37776660 Free article.

4

Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition.

Ha C, Jang JH, Kim YG, Kim JW. Ha C, et al. Among authors: jang jh. Front Genet. 2023 Oct 12;14:1283611. doi: 10.3389/fgene.2023.1283611. eCollection 2023. Front Genet. 2023. PMID: 37900184 Free PMC article.

5

CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.

Ha C, Kim D, Bak M, Park JH, Kim YG, Jang JH, Kim JW, Choi JO, Jang MA. Ha C, et al. Among authors: jang jh, jang ma. J Hum Genet. 2024 Apr;69(3-4):159-162. doi: 10.1038/s10038-023-01218-1. Epub 2024 Jan 12. J Hum Genet. 2024. PMID: 38212463

6

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.

Kim JA, Jang MA, Jang SY, Kim DK, Kim YG, Kim JW, Park TK, Jang JH. Kim JA, et al. Among authors: jang jh, jang ma, jang sy. J Clin Lab Anal. 2024 Jan;38(1-2):e25009. doi: 10.1002/jcla.25009. Epub 2024 Jan 17. J Clin Lab Anal. 2024. PMID: 38234087 Free PMC article.

7

Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency.

Kim YG, Ha C, Shin S, Park JH, Jang JH, Kim JW. Kim YG, et al. Among authors: jang jh. Front Genet. 2023 Jan 4;13:1087359. doi: 10.3389/fgene.2022.1087359. eCollection 2022. Front Genet. 2023. PMID: 36685919 Free PMC article.

8

Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of EGFR Mutations.

So MK, Park JH, Kim JW, Jang JH. So MK, et al. Among authors: jang jh. Diagnostics (Basel). 2021 Jun 2;11(6):1022. doi: 10.3390/diagnostics11061022. Diagnostics (Basel). 2021. PMID: 34199654 Free PMC article.

9

Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients.

Lee JK, Kwon WK, Hong SN, Chang DK, Kim HC, Jang JH, Kim JW. Lee JK, et al. Among authors: jang jh. Cancer Genet. 2022 Apr;262-263:95-101. doi: 10.1016/j.cancergen.2022.02.002. Epub 2022 Feb 11. Cancer Genet. 2022. PMID: 35189564

10

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.

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