Lee JS - Search Results

1

Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.

Rim JH, Lee JS, Jung J, Lee JH, Lee ST, Choi JR, Choi JY, Lee MG, Gee HY. Rim JH, et al. Among authors: lee js, lee mg, lee jh, lee st. Sci Rep. 2019 Mar 14;9(1):4583. doi: 10.1038/s41598-019-41068-6. Sci Rep. 2019. PMID: 30872718 Free PMC article.

2

Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.

Jung J, Lee JS, Cho KJ, Yu S, Yoon JH, Yung Gee H, Choi JY. Jung J, et al. Among authors: lee js. Sci Rep. 2017 Apr 6;7:45973. doi: 10.1038/srep45973. Sci Rep. 2017. PMID: 28383030 Free PMC article.

3

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

Choi HJ, Lee JS, Yu S, Cha DH, Gee HY, Choi JY, Lee JD, Jung J. Choi HJ, et al. Among authors: lee js, lee jd. BMC Med Genet. 2017 Dec 19;18(1):151. doi: 10.1186/s12881-017-0511-7. BMC Med Genet. 2017. PMID: 29258540 Free PMC article.

4

A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction.

Yu S, Choi HJ, Lee JS, Lee HJ, Rim JH, Choi JY, Gee HY, Jung J. Yu S, et al. Among authors: lee js, lee hj. Eur J Med Genet. 2019 Jan;62(1):81-84. doi: 10.1016/j.ejmg.2018.05.018. Epub 2018 May 22. Eur J Med Genet. 2019. PMID: 29800624

5

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.

Jung J, Choi HB, Koh YI, Rim JH, Choi HJ, Kim SH, Lee JH, An J, Kim A, Lee JS, Joo SY, Yu S, Choi JY, Kang TM, Gee HY. Jung J, et al. Among authors: lee js, lee jh. Sci Rep. 2018 Nov 9;8(1):16659. doi: 10.1038/s41598-018-34876-9. Sci Rep. 2018. PMID: 30413759 Free PMC article.

6

Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment.

Jung J, Lin H, Koh YI, Ryu K, Lee JS, Rim JH, Choi HJ, Lee HJ, Kim HY, Yu S, Jin H, Lee JH, Lee MG, Namkung W, Choi JY, Gee HY. Jung J, et al. Among authors: lee js, lee mg, lee jh, lee hj. Exp Mol Med. 2019 Aug 21;51(8):1-12. doi: 10.1038/s12276-019-0300-9. Exp Mol Med. 2019. PMID: 31434872 Free PMC article.

7

A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.

Shin DH, Jung J, Koh YI, Rim JH, Lee JS, Choi HJ, Joo SY, Yu S, Cha DH, Lee SY, Lee JH, Lee MG, Choi JY, Gee HY. Shin DH, et al. Among authors: lee sy, lee js, lee mg, lee jh. Hum Mutat. 2019 Mar;40(3):335-346. doi: 10.1002/humu.23698. Epub 2018 Dec 25. Hum Mutat. 2019. PMID: 30556268

8

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.

Jun I, Lee JS, Lee JH, Lee CS, Choi SI, Gee HY, Lee MG, Kim EK. Jun I, et al. Among authors: lee js, lee mg, lee jh, lee cs. Sci Rep. 2017 Aug 22;7(1):9146. doi: 10.1038/s41598-017-09629-9. Sci Rep. 2017. PMID: 28831140 Free PMC article.

9

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

Cho KJ, Noh SH, Han SM, Choi WI, Kim HY, Yu S, Lee JS, Rim JH, Lee MG, Hildebrandt F, Gee HY. Cho KJ, et al. Among authors: lee js, lee mg. PLoS Genet. 2018 Mar 30;14(3):e1007316. doi: 10.1371/journal.pgen.1007316. eCollection 2018 Mar. PLoS Genet. 2018. PMID: 29601588 Free PMC article.

10

Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review.

Lee JM, Shin J, Kim S, Gee HY, Lee JS, Cha DH, Rim JH, Park SJ, Kim JH, Uçar A, Kronbichler A, Lee KH, Shin JI. Lee JM, et al. Among authors: lee js, lee kh. Biomed Res Int. 2018 Nov 21;2018:1250721. doi: 10.1155/2018/1250721. eCollection 2018. Biomed Res Int. 2018. PMID: 30584530 Free PMC article.

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