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Soo Hyun Nam
Researcher at Samsung Medical Center
Publications - 45
Citations - 604
Soo Hyun Nam is an academic researcher from Samsung Medical Center. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 11, co-authored 38 publications receiving 454 citations. Previous affiliations of Soo Hyun Nam include Sungkyunkwan University & Kongju National University.
Papers
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Journal ArticleDOI
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
Khriezhanuo Nakhro,Jin Mo Park,Young Bin Hong,Ji Hoon Park,Soo Hyun Nam,Bo Ram Yoon,Jeong Hyun Yoo,Heasoo Koo,Sung Chul Jung,Hyung Lae Kim,Ji Yon Kim,Kyoung Gyu Choi,Byung Ok Choi,Ki Wha Chung +13 more
TL;DR: It is suggested that the compound heterozygous mutations in SBF1 are the underlying causes of a novel CMT4B subtype, designated as CMT 4B3, which will lead to mechanistic studies to discover the function of SBF 1 and to the development of molecular diagnostics for CMT disease.
Journal ArticleDOI
Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.
Soo Hyun Nam,Young Bin Hong,Young Se Hyun,Da Eun Nam,Geon Kwak,Sun Hee Hwang,Byung-Ok Choi,Ki Wha Chung +7 more
TL;DR: A gene panel for one step genetic diagnosis of IPN seems that its time- and cost-effectiveness are superior to previous tiered-genetic diagnosis algorithms, and it could be applied as a genetic diagnostic system for inherited peripheral neuropathies.
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Fabrication of the ZnO thin films using wet-chemical etching processes on application for organic light emitting diode (OLED) devices
Dong Geun Yoo,Soo Hyun Nam,Myoung-Hwa Kim,S.H. Jeong,H.-G. Jee,Hoo-Jeong Lee,Nae-Eung Lee,Byungyou Hong,Y.J. Kim,Donggeun Jung,Jin-Hyo Boo +10 more
TL;DR: In this paper, two new different chemicals were introduced as etchants, ferric chloride (FeCl3 ∙ 6H2O) and oxalic acid (C2H 2O4), which were controlled with various concentrations in ZnO etching process and showed an anisotropy etching shape.
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A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.
Young Bin Hong,Jaesoon Joo,Young Se Hyun,Geon Kwak,Yu Ri Choi,Ha Kyung Yeo,Dong Hwan Jwa,Eun Ja Kim,Won Min Mo,Soo Hyun Nam,Sung Min Kim,Jeong Hyun Yoo,Heasoo Koo,Hwan Tae Park,Ki Wha Chung,Byung Ok Choi +15 more
TL;DR: Data imply that overexpression of wild type as well as mutant PMP2 also causes the CMT1 phenotype, which has been documented in the PMP22.
Journal ArticleDOI
DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
Young Bin Hong,Junghee Kang,Ji Hyun Kim,Jinho Lee,Geon Kwak,Geon Kwak,Young Se Hyun,Soo Hyun Nam,Hyun Dae Hong,Yu Ri Choi,Sung Chul Jung,Heasoo Koo,Jieun Lee,Jieun Lee,Byung Ok Choi,Byung Ok Choi,Ki Wha Chung +16 more
TL;DR: A Korean family in which two individuals had an autosomal‐dominant axonal CMT with early‐onset, sensory ataxia, tremor, and slow disease progression was examined, and a de novo missense mutation in the diacylglycerol O‐acyltransferase 2 (DGAT2) gene was identified.