Ha C - Search Results

1

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: ha c. 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.

2

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

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

3

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: ha c. Front Genet. 2023 Jan 4;13:1087359. doi: 10.3389/fgene.2022.1087359. eCollection 2022. Front Genet. 2023. PMID: 36685919 Free PMC article.

4

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: ha c. Brain Commun. 2023 Apr 28;5(3):fcad139. doi: 10.1093/braincomms/fcad139. eCollection 2023. Brain Commun. 2023. PMID: 37180992 Free PMC article.

5

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. Front Genet. 2023 Oct 12;14:1283611. doi: 10.3389/fgene.2023.1283611. eCollection 2023. Front Genet. 2023. PMID: 37900184 Free PMC article.

6

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. 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

7

Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.

Hwang N, Kim SM, Kim YG, Ha C, Lee J, Choi BO, Sung WJ, Kim SH, Kim YM, Lee YW, Kim J, Kim JW, Jang JH, Lee J, Park HD. Hwang N, et al. Among authors: ha c. Clin Genet. 2024 Aug;106(2):150-160. doi: 10.1111/cge.14523. Epub 2024 Mar 22. Clin Genet. 2024. PMID: 38515343

8

Long-term oncologic outcomes of unselected triple-negative breast cancer patients according to BRCA1/2 mutations.

Park WK, Chung SY, Jung YJ, Ha C, Kim JW, Nam SJ, Kim SW, Yu J, Chae BJ, Lee JE, Kim SW, Ryu JM; Korean Hereditary Breast Cancer Study Group. Park WK, et al. Among authors: ha c. NPJ Precis Oncol. 2024 Apr 30;8(1):96. doi: 10.1038/s41698-024-00559-0. NPJ Precis Oncol. 2024. PMID: 38689097 Free PMC article.

9

Clinical utility of circulating tumor DNA profiling in detecting targetable fusions in non-small cell lung cancer.

Kim YG, Lee B, Ha C, Lee C, Jung HA, Sun JM, Lee SH, Ahn MJ, Choi YL, Park S, Kim JW. Kim YG, et al. Among authors: ha c. Front Oncol. 2024 Oct 24;14:1463341. doi: 10.3389/fonc.2024.1463341. eCollection 2024. Front Oncol. 2024. PMID: 39507756 Free PMC article.

10

The Identification of a Novel Thiopurine S-Methyltransferase Allele, TPMT*45, in Korean Patient with Crohn's Disease.

Ha C, Kim ES, Kwon Y, Choe YH, Kim MJ, Lee SY. Ha C, et al. Pharmgenomics Pers Med. 2020 Nov 26;13:665-671. doi: 10.2147/PGPM.S279446. eCollection 2020. Pharmgenomics Pers Med. 2020. PMID: 33273844 Free PMC article.

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