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- Publications
- Influence
Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases…
- S. Lee, S. Kim, +5 authors J. Chung
- Biology, Medicine
- The Journal of clinical endocrinology and…
- 12 April 2012
CONTEXT
Detection of the BRAF V600E mutation in fine-needle aspiration cytology (FNAC) specimens may increase the value of FNAC.
OBJECTIVE
The objectives of the study was to compare the diagnostic… Expand
Whole-genome fingerprint of the DNA methylome during human B cell differentiation
- Marta Kulis, A. Merkel, +39 authors J. Martín-Subero
- Biology, Medicine
- Nature Genetics
- 1 July 2015
We analyzed the DNA methylome of ten subpopulations spanning the entire B cell differentiation program by whole-genome bisulfite sequencing and high-density microarrays. We observed that non-CpG… Expand
Association Study of 27 Annotated Genes for Clozapine Pharmacogenetics: Validation of Preexisting Studies and Identification of a New Candidate Gene, ABCB1, for Treatment Response
- S. Lee, S. Ryu, +5 authors K. Hong
- Biology, Medicine
- Journal of clinical psychopharmacology
- 1 August 2012
Objective Pharmacogenetic studies on clozapine (CLZ) have provided meaningful insights but have shown redundancies owing to wide interindividual variability and insufficient replication. The present… Expand
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
BackgroundWe intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the… Expand
Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population
- Min-Jung Song, S. Lee, M. Lee, Yongick Ji, J. Kim, Chang-Seok Ki
- Medicine
- Journal of Human Genetics
- 1 February 2012
Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of… Expand
Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea.
- Ki Eun Hong, Sang Teak Lee, +15 authors Cheon Kwon Yoo
- Medicine
- Annals of laboratory medicine
- 1 September 2020
The outbreak of coronavirus disease 2019 (COVID-19), which began in December 2019, is still ongoing in Korea, with >9,000 confirmed cases as of March 25, 2020. COVID-19 is a severe acute respiratory… Expand
The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations
The proportion of never smoker non-small cell lung cancer (NSCLC) in Asia is about 30–40%. Despite the striking demographics and high prevalence of never smoker NSCLC, the exact causes still remain… Expand
Epigenetic remodeling in B-cell acute lymphoblastic leukemia occurs in two tracks and employs embryonic stem cell-like signatures
- S. Lee, M. Muench, +11 authors Joseph L. Wiemels
- Biology, Medicine
- Nucleic acids research
- 17 February 2015
We investigated DNA methylomes of pediatric B-cell acute lymphoblastic leukemias (B-ALLs) using whole-genome bisulfite sequencing and high-definition microarrays, along with RNA expression profiles.… Expand
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis
- H. S. Yoon, Hee-Jin Kim, +17 authors J. Seo
- Biology, Medicine
- Haematologica
- 1 April 2010
Background Familial hemophagocytic lymphohistiocytosis is a fatal disease characterized by immune dysregulation from defective function of cytotoxic lymphocytes. Three causative genes have been… Expand
Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing
TLDR