- Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
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Kim HJ, Kim SK, Yoo KY, Lee KO, Yun JW, Kim SH, Kim HJ, Park SK
- KMID: 2450949
- Ann Lab Med.
- 2019 Nov;39(6):545-551.
- doi: 10.3343/alm.2019.39.6.545
BACKGROUND: von Willebrand disease (VWD), characterized by quantitative or qualitative defects of von Willebrand factor (VWF), is the most common inheritable bleeding disorder. Data regarding the genetic background of VWD... -
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- Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
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Kim YE, Ki CS, Jang MA
- KMID: 2450964
- Ann Lab Med.
- 2019 Sep;39(5):421-429.
- doi: 10.3343/alm.2019.39.5.421
In 2015, the American College of Medical Genetics and Genomics (ACMG), together with the Association for Molecular Pathology (AMP), published the latest guidelines for the interpretation of sequence variants, which... -
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- Doctors Discussing “the Root of Koreansâ€: Medical Genetics and the Korean Origin, 1975–1987
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Hyun J
- KMID: 2457673
- Korean J Med Hist.
- 2019 Aug;28(2):551-590.
- doi: 10.13081/kjmh.2019.28.551
Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and... -
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- Necessity of Guidelines for Research in Forensic Science: DNA Identification
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Jung KW
- KMID: 2448940
- Korean J Leg Med.
- 2019 May;43(2):54-63.
- doi: 10.7580/kjlm.2019.43.2.54
Forensic science is an academic field that utilizes scientific knowledge and the conducting of research in legal procedures. Recently, legal science has been receiving more attention since the use of... -
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- Determination of Repeat Numbers of (CA)n in Mitochondrial D-loop using Polymerase Chain Reaction-single Strand Conformational Polymorphism (PCR-SSCP)
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Kim JY, Kim DK
- KMID: 2429144
- Korean J Phys Anthropol.
- 2018 Sep;31(3):77-82.
- doi: 10.11637/kjpa.2018.31.3.77
Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis is a kind of sensitive mutation detection method that has been usually used in field of medical genetics. A single DNA strand... -
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- Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
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Cho MJ, Kwon SS, Ko A, Lee ST, Lee YM, Kim HD, Chung HJ, Kim SH, Lee JS, Kim DS, Kang HC
- KMID: 2399595
- J Clin Neurol.
- 2018 Jan;14(1):22-28.
- doi: 10.3988/jcn.2018.14.1.22
BACKGROUND AND PURPOSE: The aim of this study was to determine the effectiveness of stiripentol (STP) add-on therapy to valproate and clobazam in patients with Dravet syndrome (DS) according to... -
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- Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls
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Park JS, Nam EJ, Park HS, Han JW, Lee JY, Kim J, Kim TI, Lee ST
- KMID: 2394820
- Cancer Res Treat.
- 2017 Oct;49(4):1012-1021.
- doi: 10.4143/crt.2016.433
PURPOSE: Comparison of variant frequencies in the general population has become an essential part of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for interpreting sequence... -
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- Findings of a 1303 Korean whole-exome sequencing study
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Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, Cho EH, Hwang TJ, Jang SS, Kim JI, Park KS, Bang YJ
- KMID: 2388354
- Exp Mol Med.
- 2017 Jul;49(7):e356.
- doi: 10.1038/emm.2017.142
Ethnically specific data on genetic variation are crucial for understanding human biology and for clinical interpretation of variant pathogenicity. We analyzed data obtained by deep sequencing 1303 Korean whole exomes;... -
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- SCN1A Variants in Patients with Dravet Syndrome
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Cho MJ, Kwon SS, Lee ST, Kim HD, Chung HJ, Lee JS, Lee YM, Kim SH, Kang HC
- KMID: 2385207
- J Korean Child Neurol Soc.
- 2017 Mar;25(1):9-12.
- doi: 10.0000/jkcns.2017.25.1.9
PURPOSE: The aim of this study is to examine the SCN1A variants in Korean patients with Dravet syndrome. METHODS: We conducted a retrospective study of clinically confirmed thirty-nine patients with Dravet... -
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- Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing
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Park ST, Kim J
- KMID: 2362500
- Int Neurourol J.
- 2016 Nov;20(Suppl 2):S76-S83.
- doi: 10.5213/inj.1632742.371
This article is a mini-review that provides a general overview for next-generation sequencing (NGS) and introduces one of the most popular NGS applications, whole genome sequencing (WGS), developed from the... -
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- New Therapeutic Options for Autism Spectrum Disorder: Experimental Evidences
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Penagarikano O
- KMID: 2165566
- Exp Neurobiol.
- 2015 Dec;24(4):301-311.
- doi: 10.5607/en.2015.24.4.301
Autism spectrum disorder (ASD) is characterized by impairment in two behavioral domains: social interaction/communication together with the presence of stereotyped behaviors and restricted interests. The heterogeneity in the phenotype among... -
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- Next Generation DNA Sequencing and Its Application in Clinical Medicine
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Cho S
- KMID: 2280986
- Korean J Perinatol.
- 2014 Sep;25(3):133-139.
- doi: 10.14734/kjp.2014.25.3.133
Watson and Crick published a paper on the double helical structure of DNA in Nature in April 25, 1953. The human genome is contained in the 23 pairs of chromosomes... -
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- Host Genomics in Infectious Diseases
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Loeb M
- KMID: 2170424
- Infect Chemother.
- 2013 Sep;45(3):253-259.
- doi: 10.3947/ic.2013.45.3.253
Understanding mechanisms by which genetic variants predispose to complications of infectious diseases can lead to important benefits including the development of biomarkers to prioritize vaccination or prophylactic therapy. Family studies,... -
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- Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases
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Goh G, Choi M
- KMID: 2053299
- Genomics Inform.
- 2012 Dec;10(4):214-219.
- doi: 10.5808/GI.2012.10.4.214
The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at... -
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- Genetic Counseling in Korean Health Care System
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Kim HJ
- KMID: 2184484
- J Genet Med.
- 2011 Dec;8(2):89-99.
Over the years Korean health care system has improved in delivery of quality care to the general population for many areas of the health problems. The system is now being... -
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- Array-based Comparative Genomic Hybridization and Its Application to Cancer Genomes and Human Genetics
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Cho EK
- KMID: 2005738
- J Lung Cancer.
- 2011 Dec;10(2):77-86.
- doi: 10.6058/jlc.2011.10.2.77
Microarray comparative genomic hybridization (CGH) has proven to be a specific, sensitive, and rapid technique, with considerable advantages compared to other methods used for analysis of DNA copy number changes.... -
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- Optimized Internal Control and Gene Expression Analysis in Epstein-Barr Virus-Transformed Lymphoblastoid Cell Lines
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Nam HY, Kim HR, Shim SM, Lee JE, Kim JW, Park HK, Han BG, Jeon JP
- KMID: 1806238
- Genomics Inform.
- 2011 Sep;9(3):127-133.
The Epstein-Barr virus-transformed lymphoblastoid cell line (LCL) is one of the major genomic resources for human genetics and immunological studies. Use of LCLs is currently extended to pharmacogenetic studies to... -
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- A Study on Genetic Counseling Curriculum, Accreditation of the Training Program, and the Certification Process of Genetic Counselors in Korea.
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Choi JY, Kim HJ
- KMID: 2244890
- J Genet Med.
- 2009 Jun;6(1):38-55.
PURPOSE: This study was undertaken to provide the framework for development of a genetic counseling training program, and an accreditation and certification process suitable for non-M.D. genetic counselors in Korea. MATERIALS... -
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- National survey for genetic counseling and demands for professional genetic counselor
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Chung YS, Kim SR, Choi J, Kim HJ
- KMID: 2288519
- J Genet Med.
- 2007 Dec;4(2):167-178.
PURPOSE: The necessity of professional non-MD genetic counselor has been recently emphasized in a medical field. By conducting a national survey on the demands for generic counseling and professional non-MD... -
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- Development of medical genetics training program and certification process for medical geneticist as a specialist in Korea
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Yoo HW, Hwang D, Ryu HM, Lee HJ, Kim HJ
- KMID: 2288517
- J Genet Med.
- 2007 Dec;4(2):142-159.
PURPOSE: This study was undertaken to provide prerequisites for accreditation of medical genetics training program and certification process for medical genetics professionals as clinical specialist and set up guidelines on... -
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