Kim NKD - Search Results

1

Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Shin HT, Choi YL, Yun JW, Kim NKD, Kim SY, Jeon HJ, Nam JY, Lee C, Ryu D, Kim SC, Park K, Lee E, Bae JS, Son DS, Joung JG, Lee J, Kim ST, Ahn MJ, Lee SH, Ahn JS, Lee WY, Oh BY, Park YH, Lee JE, Lee KH, Kim HC, Kim KM, Im YH, Park K, Park PJ, Park WY. Shin HT, et al. Among authors: kim nkd, kim sc, kim st, kim km, kim sy, kim hc. Nat Commun. 2017 Nov 9;8(1):1377. doi: 10.1038/s41467-017-01470-y. Nat Commun. 2017. PMID: 29123093 Free PMC article.

2

Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.

Kim NK, Higashi T, Lee KY, Kim AR, Kitajiri S, Kim MY, Chang MY, Kim V, Oh SH, Kim D, Furuse M, Park WY, Choi BY. Kim NK, et al. PLoS One. 2015 Feb 10;10(2):e0116931. doi: 10.1371/journal.pone.0116931. eCollection 2015. PLoS One. 2015. PMID: 25668204 Free PMC article.

3

Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.

Kim NK, Kim AR, Park KT, Kim SY, Kim MY, Nam JY, Woo SJ, Oh SH, Park WY, Choi BY. Kim NK, et al. Genet Med. 2015 Nov;17(11):901-11. doi: 10.1038/gim.2014.213. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719458 Free article.

4

Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).

Ko JM, Bae JS, Choi JS, Miura K, Lee HR, Kim OH, Kim NK, Oh SK, Ozono K, Lee CK, Choi IH, Park WY, Cho TJ. Ko JM, et al. Am J Med Genet A. 2015 May;167A(5):1033-8. doi: 10.1002/ajmg.a.36884. Epub 2015 Feb 27. Am J Med Genet A. 2015. PMID: 25728306

5

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

Yoon CK, Kim NK, Joung JG, Shin JY, Park JH, Eum HH, Lee HO, Park WY, Yu HG. Yoon CK, et al. BMC Genomics. 2015 Jul 9;16(1):515. doi: 10.1186/s12864-015-1723-x. BMC Genomics. 2015. PMID: 26155838 Free PMC article.

6

Evaluation of somatic copy number estimation tools for whole-exome sequencing data.

Nam JY, Kim NK, Kim SC, Joung JG, Xi R, Lee S, Park PJ, Park WY. Nam JY, et al. Brief Bioinform. 2016 Mar;17(2):185-92. doi: 10.1093/bib/bbv055. Epub 2015 Jul 25. Brief Bioinform. 2016. PMID: 26210357 Free PMC article.

7

Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.

Chang MY, Kim AR, Kim NK, Lee C, Lee KY, Jeon WS, Koo JW, Oh SH, Park WY, Kim D, Choi BY. Chang MY, et al. Mol Cells. 2015 Sep;38(9):781-8. doi: 10.14348/molcells.2015.0078. Epub 2015 Aug 4. Mol Cells. 2015. PMID: 26242193 Free PMC article.

8

Hepatorenal fibrocystic diseases in children.

Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI. Park E, et al. Pediatr Nephrol. 2016 Jan;31(1):113-9. doi: 10.1007/s00467-015-3185-4. Epub 2015 Aug 11. Pediatr Nephrol. 2016. PMID: 26260382

9

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. J Transl Med. 2015 Aug 13;13:263. doi: 10.1186/s12967-015-0624-8. J Transl Med. 2015. PMID: 26264712 Free PMC article.

10

Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Lee JY, Kim SY, Park C, Kim NK, Jang J, Park K, Yi JH, Hong M, Ahn T, Rath O, Schueler J, Kim ST, Do IG, Lee S, Park SH, Ji YI, Kim D, Park JO, Park YS, Kang WK, Kim KM, Park WY, Lim HY, Lee J. Lee JY, et al. Oncotarget. 2015 Sep 22;6(28):25619-30. doi: 10.18632/oncotarget.4627. Oncotarget. 2015. PMID: 26296973 Free PMC article.

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