Koo SK - Search Results

1

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.

Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK. Woo HM, et al. Among authors: koo sk. BMC Med Genet. 2014 Apr 28;15:46. doi: 10.1186/1471-2350-15-46. BMC Med Genet. 2014. PMID: 24767429 Free PMC article.

2

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

Lee SJ, Lee DH, Yoo HW, Koo SK, Park ES, Park JW, Lim HG, Jung SC. Lee SJ, et al. Among authors: koo sk. J Hum Genet. 2005;50(12):648-54. doi: 10.1007/s10038-005-0312-2. Epub 2005 Oct 5. J Hum Genet. 2005. PMID: 16205833

3

Genome-wide SNP-based linkage analysis for ADNSHL families identifies novel susceptibility loci with positive evidence for linkage.

Park MH, Park HJ, Kim KJ, Woo HM, Kim HJ, Lee JY, Park HY, Koo SK. Park MH, et al. Among authors: koo sk. Genes Genet Syst. 2011;86(2):117-21. doi: 10.1266/ggs.86.117. Genes Genet Syst. 2011. PMID: 21670551 Free article.

4

KMD: Korean Mutation Database for genes related to diseases.

Park MH, Koo SK, Lee JS, Yoo HW, Kim JW, Cheong HI, Park HY. Park MH, et al. Among authors: koo sk. Hum Mutat. 2012 Apr;33(4):E2332-40. doi: 10.1002/humu.22039. Hum Mutat. 2012. PMID: 22323337

5

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: koo sk. Hum Mutat. 2012 Nov;33(11):1610-5. doi: 10.1002/humu.22143. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22730194

6

Conditional deletion of pten leads to defects in nerve innervation and neuronal survival in inner ear development.

Kim HJ, Woo HM, Ryu J, Bok J, Kim JW, Choi SB, Park MH, Park HY, Koo SK. Kim HJ, et al. Among authors: koo sk. PLoS One. 2013;8(2):e55609. doi: 10.1371/journal.pone.0055609. Epub 2013 Feb 5. PLoS One. 2013. PMID: 23393595 Free PMC article.

7

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.

Woo HM, Park HJ, Baek JI, Park MH, Kim UK, Sagong B, Koo SK. Woo HM, et al. Among authors: koo sk. BMC Med Genet. 2013 Jul 17;14:72. doi: 10.1186/1471-2350-14-72. BMC Med Genet. 2013. PMID: 23865914 Free PMC article.

8

Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing.

Park MH, Rhee H, Park JH, Woo HM, Choi BO, Kim BY, Chung KW, Cho YB, Kim HJ, Jung JW, Koo SK. Park MH, et al. Among authors: koo sk. PLoS One. 2014 Jan 29;9(1):e86664. doi: 10.1371/journal.pone.0086664. eCollection 2014. PLoS One. 2014. PMID: 24489763 Free PMC article.

9

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.

Park MH, Woo HM, Hong YB, Park JH, Yoon BR, Park JM, Yoo JH, Koo H, Chae JH, Chung KW, Choi BO, Koo SK. Park MH, et al. Among authors: koo h, koo sk. Neurogenetics. 2014 Aug;15(3):171-82. doi: 10.1007/s10048-014-0405-1. Epub 2014 May 10. Neurogenetics. 2014. PMID: 24816431 Free PMC article.

10

Patterns of gene expression associated with Pten deficiency in the developing inner ear.

Kim HJ, Ryu J, Woo HM, Cho SS, Sung MK, Kim SC, Park MH, Park T, Koo SK. Kim HJ, et al. Among authors: koo sk. PLoS One. 2014 Jun 3;9(6):e97544. doi: 10.1371/journal.pone.0097544. eCollection 2014. PLoS One. 2014. PMID: 24893171 Free PMC article.

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