Choi BO - Search Results

1

Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing.

Kim JJ, Hong YM, Yun SW, Lee KY, Yoon KL, Han MK, Kim GB, Kil HR, Song MS, Lee HD, Ha KS, Jun HO, Choi BO, Oh YM, Yu JJ, Jang GY, Lee JK; Korean Kawasaki Disease Genetics Consortium. Kim JJ, et al. Among authors: choi bo. Genomics Inform. 2021 Dec;19(4):e38. doi: 10.5808/gi.21046. Epub 2021 Dec 31. Genomics Inform. 2021. PMID: 35012285 Free PMC article.

2

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

Choi BO, Koo SK, Park MH, Rhee H, Yang SJ, Choi KG, Jung SC, Kim HS, Hyun YS, Nakhro K, Lee HJ, Woo HM, Chung KW. Choi BO, et al. Among authors: choi kg. Hum Mutat. 2012 Nov;33(11):1610-5. doi: 10.1002/humu.22143. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22730194

3

Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.

Park J, Kim HS, Kwon HM, Kim J, Nam SH, Jung NY, Lee AJ, Jung YH, Kim SB, Chung KW, Choi BO. Park J, et al. Among authors: choi bo. Genes Genomics. 2022 Aug;44(8):1007-1016. doi: 10.1007/s13258-022-01253-w. Epub 2022 May 24. Genes Genomics. 2022. PMID: 35608774

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

5

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

Park J, Hyun YS, Kim YJ, Nam SH, Kim SH, Hong YB, Park JM, Chung KW, Choi BO. Park J, et al. Among authors: choi bo. J Clin Neurol. 2013 Oct;9(4):283-8. doi: 10.3988/jcn.2013.9.4.283. Epub 2013 Oct 31. J Clin Neurol. 2013. PMID: 24285972 Free PMC article.

6

Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.

Nam DE, Park JH, Park CE, Jung NY, Nam SH, Kwon HM, Kim HS, Kim SB, Son WS, Choi BO, Chung KW. Nam DE, et al. Among authors: choi bo. J Peripher Nerv Syst. 2022 Mar;27(1):38-49. doi: 10.1111/jns.12476. Epub 2021 Dec 1. J Peripher Nerv Syst. 2022. PMID: 34813128

7

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.

Nam SH, Hong YB, Hyun YS, Nam da E, Kwak G, Hwang SH, Choi BO, Chung KW. Nam SH, et al. Among authors: choi bo. Mol Cells. 2016 May 31;39(5):382-8. doi: 10.14348/molcells.2016.2288. Epub 2016 Mar 30. Mol Cells. 2016. PMID: 27025386 Free PMC article.

8

Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.

Kanwal S, Choi YJ, Lim SO, Choi HJ, Park JH, Nuzhat R, Khan A, Perveen S, Choi BO, Chung KW. Kanwal S, et al. Among authors: choi bo, choi hj, choi yj. BMC Med Genomics. 2021 Jun 30;14(1):174. doi: 10.1186/s12920-021-01019-5. BMC Med Genomics. 2021. PMID: 34193129 Free PMC article.

9

Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.

Park HJ, Choi YC, Kim SM, Kim SH, Hong YB, Yoon BR, Chung KW, Choi BO. Park HJ, et al. Among authors: choi bo, choi yc. J Clin Neurol. 2015 Apr;11(2):183-7. doi: 10.3988/jcn.2015.11.2.183. Epub 2014 Nov 11. J Clin Neurol. 2015. PMID: 25749816 Free PMC article.

10

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.

Kim SJ, Nam SH, Kanwal S, Nam DE, Yoo DH, Chae JH, Suh YL, Chung KW, Choi BO. Kim SJ, et al. Among authors: choi bo. Genes Genomics. 2018 Dec;40(12):1269-1277. doi: 10.1007/s13258-018-0721-1. Epub 2018 Aug 25. Genes Genomics. 2018. PMID: 30145633

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