Lee S - Search Results

1

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.

Oh DY, Matsumoto Y, Kitajiri SI, Kim NKD, Kim MY, Kim AR, Lee M, Lee C, Tomkinson AE, Katsuno T, Kim SY, Shin HW, Han JH, Lee S, Park WY, Choi BY. Oh DY, et al. Among authors: lee m, lee c, lee s. Hum Mutat. 2020 May;41(5):913-920. doi: 10.1002/humu.23984. Epub 2020 Jan 30. Hum Mutat. 2020. PMID: 31944473 Free PMC article.

2

ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

Han KH, Oh DY, Lee S, Lee C, Han JH, Kim MY, Park HR, Park MK, Kim NKD, Lee J, Yi E, Kim JM, Kim JW, Chae JH, Oh SH, Park WY, Choi BY. Han KH, et al. Among authors: lee j, lee s, lee c. Sci Rep. 2017 Nov 28;7(1):16504. doi: 10.1038/s41598-017-16676-9. Sci Rep. 2017. PMID: 29184165 Free PMC article.

3

One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.

Chang MY, Ahn S, Kim MY, Han JH, Park HR, Seo HK, Yoon J, Lee S, Oh DY, Kang C, Choi BY. Chang MY, et al. Among authors: lee s. Sci Rep. 2018 Feb 13;8(1):2877. doi: 10.1038/s41598-018-21236-w. Sci Rep. 2018. PMID: 29440752 Free PMC article.

4

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: lee s. J Gene Med. 2018 Jun;20(6):e3019. doi: 10.1002/jgm.3019. Epub 2018 Apr 30. J Gene Med. 2018. PMID: 29607572

5

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: lee s, lee c. 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.

6

Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.

Kim BJ, Kim DK, Han JH, Oh J, Kim AR, Lee C, Kim NK, Park HR, Kim MY, Lee S, Lee S, Oh DY, Park WY, Park S, Choi BY. Kim BJ, et al. Among authors: lee c, lee s. Hum Mutat. 2019 May;40(5):525-531. doi: 10.1002/humu.23719. Epub 2019 Feb 28. Hum Mutat. 2019. PMID: 30740825 Free PMC article.

7

Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes.

Jang JH, Oh J, Han JH, Park HR, Kim BJ, Lee S, Kim MY, Lee S, Oh DY, Choung YH, Choi BY. Jang JH, et al. Among authors: lee s. Genet Test Mol Biomarkers. 2019 Jun;23(6):423-427. doi: 10.1089/gtmb.2018.0296. Epub 2019 May 7. Genet Test Mol Biomarkers. 2019. PMID: 31063410

8

Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.

Lee SY, Han JH, Kim BJ, Oh SH, Lee S, Oh DY, Choi BY. Lee SY, et al. Among authors: lee s. Int J Mol Sci. 2019 Aug 26;20(17):4174. doi: 10.3390/ijms20174174. Int J Mol Sci. 2019. PMID: 31454969 Free PMC article.

9

Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy.

Kim BJ, Ueyama T, Miyoshi T, Lee S, Han JH, Park HR, Kim AR, Oh J, Kim MY, Kang YS, Oh DY, Yun J, Hwang SM, Kim NKD, Park WY, Kitajiri SI, Choi BY. Kim BJ, et al. Among authors: lee s. J Med Genet. 2019 Dec;56(12):818-827. doi: 10.1136/jmedgenet-2019-106282. Epub 2019 Aug 31. J Med Genet. 2019. PMID: 31473629

10

Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation.

Lee SY, Joo K, Oh J, Han JH, Park HR, Lee S, Oh DY, Woo SJ, Choi BY. Lee SY, et al. Among authors: lee s. Clin Exp Otorhinolaryngol. 2020 May;13(2):113-122. doi: 10.21053/ceo.2019.00990. Epub 2019 Nov 2. Clin Exp Otorhinolaryngol. 2020. PMID: 31674169 Free PMC article.

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