Choi HJ - Search Results

1

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: choi jy, choi 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

2

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: choi jy. 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.

3

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: choi hb, choi jy, choi hj. Sci Rep. 2018 Nov 9;8(1):16659. doi: 10.1038/s41598-018-34876-9. Sci Rep. 2018. PMID: 30413759 Free PMC article.

4

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: choi jy, choi hj. Hum Mutat. 2019 Mar;40(3):335-346. doi: 10.1002/humu.23698. Epub 2018 Dec 25. Hum Mutat. 2019. PMID: 30556268

5

Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation.

Song MH, Jung J, Rim JH, Choi HJ, Lee HJ, Noh B, Lee JS, Gee HY, Choi JY. Song MH, et al. Among authors: choi jy, choi hj. Ear Hear. 2020 Jan/Feb;41(1):114-124. doi: 10.1097/AUD.0000000000000734. Ear Hear. 2020. PMID: 31045651

6

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.

Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J. Oh KS, et al. Among authors: choi jy, choi hj. Hum Genet. 2022 Apr;141(3-4):889-901. doi: 10.1007/s00439-021-02368-y. Epub 2021 Sep 16. Hum Genet. 2022. PMID: 34529116 Free PMC article.

7

Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant.

Na G, Choi HJ, Joo SY, Rim JH, Kim JA, Kim HY, Yu S, Jeong Y, Shin GC, Noh HE, Lee HY, Kim DH, Gee HY, Jung J, Choi JY. Na G, et al. Among authors: choi jy, choi hj. Hear Res. 2021 May;404:108227. doi: 10.1016/j.heares.2021.108227. Epub 2021 Mar 19. Hear Res. 2021. PMID: 33784549

8

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: choi jy, choi 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.

9

OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.

Koh YI, Oh KS, Kim JA, Noh B, Choi HJ, Joo SY, Rim JH, Kim HY, Kim DY, Yu S, Kim DH, Lee SG, Jung J, Choi JY, Gee HY. Koh YI, et al. Among authors: choi jy, choi hj. Autophagy. 2022 Nov;18(11):2593-2614. doi: 10.1080/15548627.2022.2040891. Epub 2022 Mar 6. Autophagy. 2022. PMID: 35253614 Free PMC article.

10

DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model.

Choi HJ, Lee HJ, Choi JY, Jeon IH, Noh B, Devkota S, Lee HW, Eo SK, Choi JY, Lee MG, Jung J. Choi HJ, et al. Among authors: choi jy. Mol Ther Methods Clin Dev. 2019 Nov 30;17:188-197. doi: 10.1016/j.omtm.2019.11.019. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2019. PMID: 31909090 Free PMC article.

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