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Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.
Kim BJ, Oh DY, Han JH, Oh J, Kim MY, Park HR, Seok J, Cho SD, Lee SY, Kim Y, Carandang M, Kwon IS, Lee S, Jang JH, Choung YH, Lee S, Lee H, Hwang SM, Choi BY. Kim BJ, et al. Among authors: oh j, oh dy. Genet Med. 2020 Jun;22(6):1119-1128. doi: 10.1038/s41436-020-0774-9. Epub 2020 Mar 17. Genet Med. 2020. PMID: 32203226 Free article.
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Jang MW, Oh DY, Yi E, Liu X, Ling J, Kim N, Sharma K, Kim TY, Lee S, Kim AR, Kim MY, Kim MA, Lee M, Han JH, Han JJ, Park HR, Kim BJ, Lee SY, Woo DH, Oh J, Oh SJ, Du T, Koo JW, Oh SH, Shin HW, Seong MW, Lee KY, Kim UK, Shin JB, Sang S, Cai X, Mei L, He C, Blanton SH, Chen ZY, Chen H, Liu X, Nourbakhsh A, Huang Z, Kang KW, Park WY, Feng Y, Lee CJ, Choi BY. Jang MW, et al. Among authors: oh j, oh sj, oh dy, oh sh. Proc Natl Acad Sci U S A. 2021 Jun 1;118(22):e2019681118. doi: 10.1073/pnas.2019681118. Proc Natl Acad Sci U S A. 2021. PMID: 34050020 Free PMC article.
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: oh j, oh dy. 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
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