Choi BY - Search Results

1

TMTC4 is a hair cell-specific human deafness gene.

Li J, Choi BY, Eltawil Y, Ismail Mohamad N, Park Y, Matthews IR, Han JH, Kim BJ, Sherr EH, Chan DK. Li J, et al. Among authors: choi by. JCI Insight. 2023 Dec 22;8(24):e172665. doi: 10.1172/jci.insight.172665. JCI Insight. 2023. PMID: 37943620 Free PMC article.

2

Application of next generation sequencing upon the molecular genetic diagnosis of deafness.

Choi BY, Kim BJ. Choi BY, et al. Korean J Audiol. 2012 Apr;16(1):1-5. doi: 10.7874/kja.2012.16.1.1. Epub 2012 Apr 30. Korean J Audiol. 2012. PMID: 24653861 Free PMC article. Review.

3

Targeted Exome Sequencing of Deafness Genes After Failure of Auditory Phenotype-Driven Candidate Gene Screening.

Kim BJ, Kim AR, Park G, Park WY, Chang SO, Oh SH, Choi BY. Kim BJ, et al. Among authors: choi by. Otol Neurotol. 2015 Jul;36(6):1096-102. doi: 10.1097/MAO.0000000000000747. Otol Neurotol. 2015. PMID: 25830873

4

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.

Kim SY, Kim AR, Kim NK, Kim MY, Jeon EH, Kim BJ, Han YE, Chang MY, Park WY, Choi BY. Kim SY, et al. Among authors: choi by. J Transl Med. 2015 Aug 13;13:263. doi: 10.1186/s12967-015-0624-8. J Transl Med. 2015. PMID: 26264712 Free PMC article.

5

Distinct vestibular phenotypes in DFNA9 families with COCH variants.

Kim BJ, Kim AR, Han KH, Rah YC, Hyun J, Ra BS, Koo JW, Choi BY. Kim BJ, et al. Among authors: choi by. Eur Arch Otorhinolaryngol. 2016 Oct;273(10):2993-3002. doi: 10.1007/s00405-015-3885-1. Epub 2016 Jan 13. Eur Arch Otorhinolaryngol. 2016. PMID: 26758463

6

Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.

Kim BJ, Kim AR, Lee C, Kim SY, Kim NK, Chang MY, Rhee J, Park MH, Koo SK, Kim MY, Han JH, Oh SH, Park WY, Choi BY. Kim BJ, et al. Among authors: choi by. PLoS One. 2016 Oct 28;11(10):e0165680. doi: 10.1371/journal.pone.0165680. eCollection 2016. PLoS One. 2016. PMID: 27792758 Free PMC article.

7

Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.

Kim BJ, Kim AR, Han JH, Lee C, Oh DY, Choi BY. Kim BJ, et al. Among authors: choi by. J Gene Med. 2017 Apr;19(4). doi: 10.1002/jgm.2950. J Gene Med. 2017. PMID: 28221712

8

A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.

Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY. Kim BJ, et al. Among authors: choi by. J Gene Med. 2018 Jun;20(6):e3019. doi: 10.1002/jgm.3019. Epub 2018 Apr 30. J Gene Med. 2018. PMID: 29607572

9

Characterization of Detailed Audiological Features of Cytomegalovirus Infection: A Composite Cohort Study from Groups with Distinct Demographics.

Kim BJ, Han JJ, Shin SH, Kim HS, Yang HR, Choi EH, Chang MY, Lee SY, Suh MW, Koo JW, Lee JH, Choi BY, Oh SH. Kim BJ, et al. Among authors: choi by, choi eh. Biomed Res Int. 2018 Aug 30;2018:7087586. doi: 10.1155/2018/7087586. eCollection 2018. Biomed Res Int. 2018. PMID: 30228987 Free PMC article.

10

Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.

Kim BJ, Jang JH, Han JH, Park HR, Oh DY, Lee S, Kim MY, Kim AR, Lee C, Kim NKD, Park WY, Choung YH, Choi BY. Kim BJ, et al. Among authors: choi by. J Transl Med. 2018 Nov 27;16(1):330. doi: 10.1186/s12967-018-1708-z. J Transl Med. 2018. PMID: 30482216 Free PMC article.

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