Department of Laboratory Medicine and Genetics
Kim, Jong-Won
95 AppointmentProfessor, Department of Laboratory Medicine, Sungkyunkwan University School of Medicine
Speciality Interests
Schedule
05 | THU 01 |
FRI 02 |
MON 05 |
TUE 06 |
WEN 07 |
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Medical School
Seoul National University College of Medicine
Specialty Training
Fellowship | Seoul National University Hospital Post-Doc Fellow in Children Hospital, Cincinnati, Ohio, USA |
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Residency | Seoul National University Hospital | |
Internship | Seoul National University Hospital |
Participation in Academic Societies
and Research
Korean Society of Laboratory Medicine
Executive, Chairman, Scientific Commitee of Korean Society of Laboratory Medicine
Thesis
DIAGNOSTICS 2021 10.3390/diagnostics11061022
Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of EGFR Mutations
CANCERS 2021 10.3390/cancers13092192
A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study
TRANSL PSYCHIATRY 2021 10.1038/s41398-021-01412-9
Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE epsilon 4 carriers
SCI REP-UK 2021 10.1038/s41598-021-83887-6
Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes
DIAGNOSTICS 2021 10.3390/diagnostics11020370
Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea
SCI REP-UK 2020 10.1038/s41598-020-69603-w
Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and early mild cognitive impairment
CLIN CHEM 2020 10.1093/clinchem/hvaa088
Quantitative and Qualitative QC of Next-Generation Sequencing for Detecting Somatic Variants: An Example of Detecting Clonal Hematopoiesis of Indeterminate Potential
PATHOL RES PRACT 2020 10.1016/j.prp.2020.152941
CDH1 mutations in gastric cancers are not associated with family history
ANN LAB MED 2020 10.3343/alm.2020.40.3.232
Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea
ANN LAB MED 2019 10.3343/alm.2019.39.6.515
Korean Society for Genetic Diagnostics Guidelines for Validation of Next Generation Sequencing-Based Somatic Variant Detection in Hematologic Malignancies
J CLIN LAB ANAL 2019 10.1002/jcla.23064
Next-generation sequencing reveals unique combination of mutations in cis of CSF3R in atypical chronic myeloid leukemia
THYROID 2019 10.1089/thy.2019.0261
Multifocality in a Patient with Cribriform-Morular Variant of Papillary Thyroid Carcinoma Is an Important Clue for the Diagnosis of Familial Adenomatous Polyposis
J AFFECT DISORDERS 2019 10.1016/j.jad.2019.04.011
Heritability estimates of individual psychological distress symptoms from genetic variation
PLoS One 2019 10.1371/journal.pone.0218968
Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation
LEUKEMIA 2019 10.1038/s41375-018-0321-8
HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia
MOL GENET GENOM MED 2019 10.1002/mgg3.620
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm
BREAST CANCER RES TR 2019 10.1007/s10549-018-5015-4
Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea
ANN LAB MED 2019 10.3343/alm.2019.39.1.109
A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis
BMC BIOINFORMATICS 2018 10.1186/s12859-018-2409-6
DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data
EUR J HAEMATOL 2018 10.1111/ejh.13076
A novel type of+2-base pair frameshift CALR mutation in a patient with myeloproliferative neoplasm
MENOPAUSE 2018 10.1097/GME.0000000000001140
Menopausal hormone therapy and mild cognitive impairment: a randomized, placebo-controlled trial
YONSEI MED J 2018 10.3349/ymj.2018.59.5.652
A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases
ANN LAB MED 2018 10.3343/alm.2018.38.4.291
Principles of Genetic Counseling in the Era of Next-Generation Sequencing
ANN LAB MED 2017 10.3343/alm.2017.37.6.540
Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis
ANN LAB MED 2017 10.3343/alm.2017.37.6.494
Performance Evaluation of the PowerChek MERS (upE & ORF1a) Real-Time PCR Kit for the Detection of Middle East Respiratory Syndrome Coronavirus
J PEDIATR ENDOCR MET 2017 10.1515/jpem-2017-0158
Reassessing the significance of the PAH c.158G > A (p.Arg53His) variant in patients with hyperphenylalaninemia
ANN LAB MED 2017 10.3343/alm.2017.37.5.462
Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome
JAMA Oncol. 2017 May 1;3(5):636-651. doi: 10.1001/jamaoncol.2016.5945.
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study
Ann Lab Med. 2017 May;37(3):261-266. doi: 10.3343/alm.2017.37.3.261.
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease lb
Ann Lab Med. 2017 Mar;37(2):147-150. doi: 10.3343/alm.2017.37.2.147.
Performance of the Real-Q EBV Quantification Kit for Epstein-Barr Virus DNA Quantification in Whole Blood
J Clin Microbiol. 2017 Feb;55(2):479-484. doi: 10.1128/JCM.02045-16. Epub 2016 Nov 30.
Performance Evaluation of Allplex Respiratory Panels 1, 2, and 3 for Detection of Respiratory Viruses and Influenza A Virus Subtypes
Ann Lab Med. 2017 Jan;37(1):81-83. doi: 10.3343/alm.2017.37.1.81.
Importance of Specimen Type and Quality in Diagnosing Middle East Respiratory Syndrome
ANNALS OF LABORATORY MEDICINE, JAN 2017, 37(1):58-62, DOI: 10.3343/alm.2017.37.1.58
Novel Pathogenic Variant (c.580C>7) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
Ann Lab Med. 2016 May;36(3):259-62. doi: 10.3343/alm.2016.36.3.259.
The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene
Ann Lab Med. 2016 Mar;36(2):145-53. doi: 10.3343/alm.2016.36.2.145.
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population
Genet Med. 2016 Dec;18(12):1250-1257. doi: 10.1038/gim.2016.39. Epub 2016 Apr 28.
Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants
JOURNAL OF CLINICAL VIROLOGY, DEC 2016, 85:27-30, DOI: 10.1016/j.jcv.2016.10.014
Analytical and clinical evaluation of the Abbott Real Time hepatitis B sequencing assay
J Clin Lab Anal. 2016 Nov;30(6):1061-1070. doi: 10.1002/jcla.21981. Epub 2016 May 2.
Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients
Psychiatry Investig. 2016 Nov;13(6):630-636. Epub 2016 Nov 24.
Linkage and Association Analyses of Schizophrenia with Genetic Variations on Chromosome 22q11 in Koreans
Ann Lab Med. 2016 Nov;36(6):561-72. doi: 10.3343/alm.2016.36.6.561.
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening
Ann Lab Med. 2016 Nov;36(6):603-6. doi: 10.3343/alm.2016.36.6.603.
Performance Evaluation of the Real-Q Cytomegalovirus (CMV) Quantification Kit Using Two Real-Time PCR Systems for Quantifying CMV DNA in Whole Blood
Ann Lab Med. 2016 Sep;36(5):469-74. doi: 10.3343/alm.2016.36.5.469.
Adeno-Associated Virus 2-Mediated Hepatocellular Carcinoma is Very Rare in Korean Patients
Ann Lab Med. 2016 Sep;36(5):463-8. doi: 10.3343/alm.2016.36.5.463.
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome
J Hum Genet. 2016 Aug;61(8):705-9. doi: 10.1038/jhg.2016.33. Epub 2016 Apr 14.
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1
J Clin Pathol. 2016 Aug;69(8):737-41. doi: 10.1136/jclinpath-2016-203649. Epub 2016 May 19.
High frequency of JAK2 exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance
Oncotarget. 2016 Aug 23;7(34):54825-54837. doi: 10.18632/oncotarget.10240.
Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations
Cancer Med. 2016 May;5(5):769-77. doi: 10.1002/cam4.636. Epub 2016 Jan 18.
Triage of patients with AUS/FLUS on thyroid cytopathology: effectiveness of the multimodal diagnostic techniques
BMC Med Genet. 2016 Apr 21;17:33. doi: 10.1186/s12881-016-0295-1.
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
J Clin Lab Anal. 2015 Sep;29(5):361-5. doi: 10.1002/jcla.21779. Epub 2014 Nov 10.
Mutant Enrichment with 3 '-Modified Oligonucleotides (MEMO)-Quantitative PCR for Detection of NPM1 Mutations in Acute Myeloid Leukemia
Transl Psychiatry. 2015 Sep 8;5:e633. doi: 10.1038/tp.2015.127.
A genome-wide association study of antidepressant response in Koreans
BMC Med Inform Decis Mak. 2015;15 Suppl 1:S1. doi: 10.1186/1472-6947-15-S1-S1. Epub 2015 May 20.
Inference of brain pathway activities for Alzheimer's disease classification
Inflamm Bowel Dis. 2015 Dec;21(12):2897-908. doi: 10.1097/MIB.0000000000000570.
Impact of Genetic Polymorphisms on 6-Thioguanine Nucleotide Levels and Toxicity in Pediatric Patients with IBD Treated with Azathioprine
Ann Lab Med. 2015 Nov;35(6):578-85. doi: 10.3343/alm.2015.35.6.578.
Dried Blood Spot Testing for Seven Steroids Using Liquid Chromatography-Tandem Mass Spectrometry With Reference Interval Determination in the Korean Population
J Virol Methods. 2015 Nov;224:42-6. doi: 10.1016/j.jviromet.2015.08.003. Epub 2015 Aug 13.
Comparison of the AdvanSure (TM) real-time RT-PCR and Seeplex (R) RV12 ACE assay for the detection of respiratory viruses
Ann Lab Med. 2015 Nov;35(6):624-9. doi: 10.3343/alm.2015.35.6.624.
Evaluation of the Anyplex BRAF V600E Real-Time Detection Assay Using Dual-Priming Oligonucleotide Technology in Fine-Needle Aspirates of Thyroid Nodules
Ann Lab Med. 2015 Jan;35(1):41-9. doi: 10.3343/alm.2015.35.1.41. Epub 2014 Dec 8.
A Simple and Rapid Method Based on Liquid Chromatography-Tandem Mass Spectrometry for the Measurement of alpha-L-Iduronidase Activity in Dried Blood Spots: An Application to Mucopolysaccharidosis I (Hurler) Screening
Ann Lab Med. 2015 Jan;35(1):76-81. doi: 10.3343/alm.2015.35.1.76. Epub 2014 Dec 8.
Evaluation of the iNtRON VRE vanA/vanB Real-Time PCR Assay for Detection of Vancomycin-Resistant Enterococci
Int J Cardiol. 2015 Sep 1;194:21-2. doi: 10.1016/j.ijcard.2015.05.037. Epub 2015 May 9.
Clinical severity of viral myocarditis is not associated with a mutation of dystrophin gene cleavage sites
Ann Lab Med. 2015 Sep;35(5):535-9. doi: 10.3343/alm.2015.35.5.535.
CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay
Neurobiol Aging. 2015 Aug;36(8):2443.e1-7. doi: 10.1016/j.neurobiolaging.2015.04.009. Epub 2015 Apr 25.
NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients
Yonsei Med J. 2015 Jul;56(4):993-7. doi: 10.3349/ymj.2015.56.4.993.
Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy
J Mol Diagn. 2015 Jul;17(4):431-7. doi: 10.1016/j.jmoldx.2015.03.006. Epub 2015 Apr 30.
Evaluation of the Real-Q BRAF V600E Detection Assay in Fine-Needle Aspiration Samples of Thyroid Nodules
Inflamm Bowel Dis. 2015 May;21(5):1054-62. doi: 10.1097/MIB.0000000000000347.
Relationship Between Azathioprine Dosage, 6-Thioguanine Nucleotide Levels, and Therapeutic Response in Pediatric Patients with IBD Treated with Azathioprine
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A NEW GERMLINE ALA641THR VARIANT IN THE TRANSMEMBRANE DOMAIN OF THE RET GENE ASSOCIATED WITH MEDULLARY THYROID CANCER
Clin Chim Acta. 2015 Apr 15;444:50-3. doi: 10.1016/j.cca.2015.02.008. Epub 2015 Feb 11.
Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: A congenital disorder of glycosylation mimicking glycogen storage disease
Int J Cancer. 2015 Apr 1;136(7):1568-78. doi: 10.1002/ijc.29133. Epub 2014 Aug 22.
Lynch-like syndrome: Characterization and comparison with EPCAM deletion carriers
Ann Lab Med. 2015 Mar;35(2):257-9. doi: 10.3343/alm.2015.35.2.257. Epub 2015 Feb 12.
BRAF V600E and MAP2K1 Mutations in Hairy Cell Leukemia and Splenic Marginal Zone Lymphoma Cases
Pharmacogenet Genomics. 2015 Mar;25(3):143-6. doi: 10.1097/FPC.0000000000000117.
Complete sequence-based screening of TPMT variants in the Korean population
Am J Hum Genet. 2015 Feb 5;96(2):266-74. doi: 10.1016/j.ajhg.2014.11.019. Epub 2015 Jan 22.
Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
Clin Genet. 2015 Feb;87(2):196-8. doi: 10.1111/cge.12350. Epub 2014 Feb 21.
A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum
BMC Med Genet. 2014 Aug 15;15:94. doi: 10.1186/s12881-014-0094-5.
Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity
Diagn Microbiol Infect Dis. 2014 Aug;79(4):419-21. doi: 10.1016/j.diagmicrobio.2014.01.025. Epub 2014 Feb 20.
Comparison of the Anyplex (TM) II RV16 and Seeplex (R) RV12 ACE assays for the detection of respiratory viruses
Ann Clin Lab Sci. 2014 Summer;44(3):317-23.
Two Novel FAH Gene Mutations in a Patient with Hereditary Tyrosinemia Type I
Clin Chem Lab Med. 2014 Jul;52(7):e139-42. doi: 10.1515/cclm-2013-1007.
Evaluation of mutation profiling by matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry in fine needle aspirations from papillary thyroid cancer
J Med Virol. 2014 Jun;86(6):957-62. doi: 10.1002/jmv.23920. Epub 2014 Mar 7.
Incidence and Clinical Features of Herpes Simplex Viruses ( 1 and 2) and Varicella-Zoster Virus Infections in an Adult Korean Population With Aseptic Meningitis or Encephalitis
Am J Surg Pathol. 2014 Jun;38(6):784-92. doi: 10.1097/PAS.0000000000000185.
Pyloric Gland Adenoma in Lynch Syndrome
Clin Genet. 2014 May;85(5):441-5. doi: 10.1111/cge.12195. Epub 2013 Jun 13.
Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample
Neurobiol Aging. 2014 Mar;35(3):726.e1-6. doi: 10.1016/j.neurobiolaging.2013.09.004. Epub 2013 Oct 16.
Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Haematologica. 2014 Mar;99(3):561-9. doi: 10.3324/haematol.2013.092023. Epub 2013 Oct 25.
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population
Clin Chim Acta. 2014 Nov 1;437:101-2. doi: 10.1016/j.cca.2014.07.011. Epub 2014 Jul 15.
Safe azathioprine treatment in a pediatric ulcerative colitis patient with TPMT*16 by thiopurine metabolite monitoring
Clin Genet. 2014 Oct;86(4):398-9. doi: 10.1111/cge.12310. Epub 2013 Nov 26.
Frequency of DMPK mutation carriers in Korean women of childbearing age
J Perinat Med. 2014 Jan;42(1):121-7. doi: 10.1515/jpm-2013-0154.
Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: A retrospective and prospective evaluation
Ann Neurol. 2014 Sep;76(3):379-92. doi: 10.1002/ana.24219. Epub 2014 Jul 29.
PLXNA4 Is Associated with Alzheimer Disease and Modulates Tau Phosphorylation
PLoS One. 2014 Sep 16;9(9):e107098. doi: 10.1371/journal.pone.0107098. eCollection 2014.
Genetic Prediction of Antidepressant Drug Response and Nonresponse in Korean Patients
Ann Lab Med. 2014 Sep;34(5):386-9. doi: 10.3343/alm.2014.34.5.386. Epub 2014 Aug 21.
Presymptomatic Identification of CDH1 Germline Mutation in a Healthy Korean Individual with Family History of Gastric Cancer
Gene. 2014 Aug 10;546(2):421-4. doi: 10.1016/j.gene.2014.06.027. Epub 2014 Jun 14.
Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis
Tumour Biol. 2014 Apr;35(4):3765-70. doi: 10.1007/s13277-013-1498-0. Epub 2013 Dec 11.
Differential association of RANTES-403 and IL-1B-1464 polymorphisms on histological subtypes in male Korean patients with gastric cancer
Mol Cell Proteomics. 2014 Feb;13(2):407-19. doi: 10.1074/mcp.M113.028639. Epub 2013 Dec 8.
Both Targeted Mass Spectrometry and Flow Sorting Analysis Methods Detected the Decreased Serum Apolipoprotein E Level in Alzheimer's Disease Patients
Clin Chim Acta. 2014 Jan 20;428:72-6.
Clinical application of catalytically cleavable fluorescence probe technology for multiplexing quantification of BCR-ABL1 fusion transcripts
PLoS One. 2013 Nov 18;8(11):e79063. doi: 10.1371/journal.pone.0079063. eCollection 2013.
SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)
Gut Liver. 2013 Nov;7(6):747-51. doi: 10.5009/gnl.2013.7.6.747. Epub 2013 Nov 11.
A Novel Germline Mutation in Exon 10 of the SMAD4 Gene in a Familial Juvenile Polyposis
PLoS One. 2013;8(4):e58618. doi: 10.1371/journal.pone.0058618. Epub 2013 Apr 2.
SORL1 Is Genetically Associated with Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians
Hum Genet. 2013 Jan;132(1):15-27. doi: 10.1007/s00439-012-1218-7. Epub 2012 Aug 21.
A Bayesian ensemble approach with a disease gene network predicts damaging effects of missense variants of human cancers
Exp Diabetes Res. 2012;2012:827172. doi: 10.1155/2012/827172. Epub 2012 Oct 23.
Genetic Variation in CYP17A1 Is Associated with Arterial Stiffness in Diabetic Subjects
J Clin Endocrinol Metab. 2012 Jul;97(7):2299-306. doi: 10.1210/jc.2011-3135. Epub 2012 Apr 12.
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 in a BRAF V600E Mutation-Prevalent Area
Ann Lab Med. 2012 May;32(3):238-41. doi: 10.3343/alm.2012.32.3.238. Epub 2012 Apr 18.
Identification of a Rare 3 bp BRAF Gene Deletion in a Thyroid Nodule by Mutant Enrichment with 3'-Modified Oligonucleotides Polymerase Chain Reaction
Leuk Res. 2012 Apr;36(4):418-21. doi: 10.1016/j.leukres.2011.12.021. Epub 2012 Feb 5.
Sequential array comparative genomic hybridization analysis identifies copy number changes during blastic transformation of chronic myeloid leukemia
Hum Mutat. 2012 Apr;33(4):E2332-40. doi: 10.1002/humu.22039.
KMD: Korean mutation database for genes related to diseases
Hum Genet.?2012 Mar;131(3):365-72. doi: 10.1007/s00439-011-1080-z. Epub 2011 Aug 25.
The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations
J Hum Genet. 2012 Mar;57(3):212-5. doi: 10.1038/jhg.2011.139. Epub 2012 Jan 5.
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing
BMB Rep. 2011 Nov;44(11):725-9.
Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma
Eur J Clin Pharmacol. 2011 Nov;67(11):1119-30. doi: 10.1007/s00228-011-1060-1. Epub 2011 May 18.
Evaluation of the effects of VKORC1 polymorphisms and haplotypes, CYP2C9 genotypes, and clinical factors on warfarin response in Sudanese patients
Int J Dermatol. 2011 Nov;50(11):1437-9. doi: 10.1111/j.1365-4632.2010.04549.x.
Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia
Forensic Sci Int Genet. 2011 Nov;5(5):552-4. doi: 10.1016/j.fsigen.2010.06.001. Epub 2010 Jul 3.
Variant alleles detected in a large Korean population using AmpFlSTR Profiler Plus
Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7.
A Complex Phenotype of Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss is Linked to an Autosomal Dominant Mutation in MYH14
J Alzheimers Dis. 2011;25(1):77-84. doi: 10.3233/JAD-2011-102145.
Human Serum Transthyretin Levels Correlate Inversely with Alzheimer's Disease
Blood. 2011 Jun 23;117(25):6906-11. doi: 10.1182/blood-2011-01-329797. Epub 2011 May 3.
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia
Int J Nanomedicine. 2010 Dec 15;6:1-12. doi: 10.2147/IJN.S15278.
Effective screen for amyloid beta aggregation inhibitor using amyloid beta-conjugated gold nanoparticles
J Proteome Res. 2011 Mar 4;10(3):1383-95. doi: 10.1021/pr101154j. Epub 2011 Jan 25.
Identification and Validation of SAA as a Potential Lung Cancer Biomarker and its Involvement in Metastatic Pathogenesis of Lung Cancer
Ann Clin Lab Sci. 2011 Fall;41(1):48-55.
Comparison of HPV Genotyping Assays and Hybrid Capture 2 for Detection of High-Risk HPV in Cervical Specimens
Ann Dermatol. 2010 Nov;22(4):452-5. doi: 10.5021/ad.2010.22.4.452. Epub 2010 Nov 5.
Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis
Hum Mol Genet. 2010 Sep 15;19(18):3672-8. doi: 10.1093/hmg/ddq281. Epub 2010 Jul 16.
Genome-wide association of serum bilirubin levels in Korean population
Cytokine. 2010 Jul;51(1):73-7. doi: 10.1016/j.cyto.2010.03.007. Epub 2010 Apr 2.
Interleukin 10 polymorphisms differentially influence the risk of gastric cancer in East Asians and Caucasians
Korean J Lab Med. 2010 Jun;30(3):307-11. doi: 10.3343/kjlm.2010.30.3.307.
Clinical Characteristics and ALB Gene Mutation Analysis of Korean Patients with Bisalbuminemia
J Korean Med Sci. 2010 Jan;25(1):163-5. doi: 10.3346/jkms.2010.25.1.163. Epub 2009 Dec 29.
Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency
J Korean Med Sci. 2010 Jan;25(1):159-62. doi: 10.3346/jkms.2010.25.1.159. Epub 2009 Dec 26.
A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis
IET Syst Biol. 2009 Nov;3(6):534-42. doi: 10.1049/iet-syb.2008.0183.
Pathway level analysis by augmenting activities of transcription factor target genes
BMC Bioinformatics. 2009 Sep 17;10 Suppl 9:S2. doi: 10.1186/1471-2105-10-S9-S2.
Analysis of AML genes in dysregulated molecular networks
Genomics. 2009 Aug;94(2):89-93. doi: 10.1016/j.ygeno.2009.04.005. Epub 2009 Apr 24.
Comparison of identical single nucleotide polymorphisms genotyped by the GeneChip Targeted Genotyping 25K, Affymetrix 500K and Illumina 550K platforms
J Altern Complement Med. 2009 Jul;15(7):765-9. doi: 10.1089/acm.2009.0067.
A Genome-Wide Scan for the Sasang Constitution in a Korean Family Suggests Significant Linkage at Chromosomes 8q11.22-23 and 11q22.1-3
Am J Med Genet B Neuropsychiatr Genet. 2009 Jul 5;150B(5):647-52. doi: 10.1002/ajmg.b.30884.
Genome-Widely Significant Evidence of Linkage of Schizophrenia to Chromosomes 2p24.3 and 6q27 in an SNP-Based analysis of Korean Families
J Korean Med Sci. 2009 Feb;24(1):77-83. doi: 10.3346/jkms.2009.24.1.77. Epub 2009 Feb 28.
Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis
BMC Bioinformatics. 2009 Jan 30;10 Suppl 1:S53. doi: 10.1186/1471-2105-10-S1-S53.
Comparative analysis of the JAK/STAT signaling through erythropoietin receptor and thrombopoietin receptor using a systems approach
Front Biosci (Landmark Ed). 2009 Jan 1;14:3879-83.
Identification of autoantibody against beta-amyloid peptide in the serum of elderly
PLoS Comput Biol. 2008 Nov;4(11):e1000217. doi: 10.1371/journal.pcbi.1000217. Epub 2008 Nov 7.
Inferring Pathway Activity toward Precise Disease Classification
PLoS One. 2008;3(10):e3575. doi: 10.1371/journal.pone.0003575. Epub 2008 Oct 30.
Cataloging Coding Sequence Variations in Human Genome Databases
Genomics. 2008 Mar;91(3):259-66. doi: 10.1016/j.ygeno.2007.11.001.
EnsemPro: An ensemble approach to predicting transcription start sites in human genomic DNA sequences
Cancer Sci. 2008 Feb;99(2):340-4. doi: 10.1111/j.1349-7006.2007.00693.x.
UGT1A7 haplotype is associated with an increased risk of hepatocellular carcinoma in hepatitis B carriers
J Child Neurol. 2007 Nov;22(11):1297-300.
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome
Pharmacogenomics. 2007 Oct;8(10):1347-57.
Effectiveness of in silico tagSNP methods: virtual analysis of the pharmacogenetic genes
Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29.
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX5)
Headache. 2007 Jul-Aug;47(7):1056-62.
Association between a polymorphism in the lymphotoxin_a promoter region and migraine
J Korean Med Sci. 2007 Jun;22(3):557-9.
A case report of a patient carrying CYP2C9*3/4 genotype with extremely low warfarin dose requirement
J Korean Med Sci. 2007 Jun;22(3):425-30.
Distinct linkage disequilibrium (LD) runs of single nucleotide polymorphisms and microsatellite markers; Implications for use of mixed marker haplotypes in LD-based mapping
J Biochem Mol Biol. 2007 May 31;40(3):448-52.
Contributions of CYP2C9/CYP2C19 genotypes and drug interaction to the phenytoin treatment in the Korean epileptic patients in the clinical setting
Cytokine. 2007 May;38(2):96-100. Epub 2007 Jun 26.
Interaction of polymorphisms in the Interleukin 1B-31 and general transcription factor 2A1 genes on the susceptibility to gastric cancer
Exp Mol Med. 2006 Dec 31;38(6):662-7.
Heterozygosities of 735 microsatellite markers and background linkage disequilibrium in the Korean population
J Korean Med Sci. 2006 Oct;21(5):954-7.
A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis
Hum Psychopharmacol. 2006 Aug;21(6):409-12.
Pharmacokinetic parameters of bromperidol in Korean subjects
Cancer Genet Cytogenet. 2006 Aug;169(1):81-2.
PML/RARA rearrangement associated with a t(15;19;17) in a case of acute myeloid leukemia with abundant myelocytes with salmon-pink cytoplasm
J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jul 24;839(1-2):124-9. Epub 2006 May 3.
Determination of iohexol clearance by high-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS)
Ther Drug Monit. 2006 Jun;28(3):382-7.
Sequence-based CYP2D6 genotyping in the Korean population
Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):281-6.
Linkage and association of schizophrenia with genetic variations in the locus of neuregulin 1 in Korean population
Thyroid. 2006 Mar;16(3):237-41.
Lack of a genetic association between the CTLA-4 gene and Graves' disease in Koreans
Int J Cancer. 2005 Dec 20;117(6):957-60.
TP53BP2 locus is associated with gastric cancer susceptibility
J Korean Med Sci. 2005 Dec;20(6):1089-92.
GSTM1, GSTT1 and GSTP1 polymorphisms in the Korean population
Yonsei Med J. 2005 Dec 31;46(6):843-6.
A case of intolerance to warfarin dosing in an intermediate metabolizer of CYP2C9
J Korean Med Sci. 2005 Jun;20(3):499-501.
A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b
Neurology. 2005 Jun 14;64(11):1964-7.
A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24
Genet Med. 2005 May-Jun;7(5):339-43.
Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification
Clin Chim Acta. 2005 Apr;354(1-2):167-80.
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report
Exp Mol Med. 2005 Feb 28;37(1):11-7.
Genetic polymorphism of CYP17 and breast cancer risk in Korean women
Clin Chem. 2004 Nov;50(11):2193-5.
Evaluation of imprecision for analysis of short tandem repeats by use of mixed blood cells in variable concentrations
J Korean Med Sci. 2004 Oct;19(5):750-2.
A case report of a poor metabolizer of CYP2D6 presented with unusual responses to nortriptyline medication
Mol Cells. 2004 Aug 31;18(1):63-70.
Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia
No items found.
Inorganic-biomolecular hybrid nanomaterials as a genetic molecular code system
Clin Genet. 2004 Jun;65(6):487-9.
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia
J Gastroenterol. 2004;39(5):429-33.
Novel interleukin 1 beta polymorphism increased the risk of gastric cancer in a Korean population
Neuromuscul Disord. 2004 May;14(5):325-8.
A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type IA with sensorineural deafness
Clin Chem. 2003 Dec;49(12):2078-81.
Haplotype structure of the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population
J Gerontol A Biol Sci Med Sci. 2003 Mar;58(3):227-31.
Distributions of ACE and APOE polymorphisms and their relations with dementia status in Korean centenarians
J Neurol Sci. 2003 Jan 15;206(1):31-7.
The apolipoprotein E epsilon 4 haplotype is an important predictor for recurrence in ischemic cerebrovascular disease
J Hum Genet. 2003;48(1):51-4.
Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy
Clin Chem. 2002 May;48(5):775-7.
Complete sequencing of a genetic polymorphism in NAT2 in the Korean population
Neurosci Lett. 2002 Feb 15;319(2):75-8.
Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's disease
Clin Chem Lab Med. 2002 Jul;40(7):689-92.
Frequencies of C28Y and H63D mutations and transferrin saturation indices in the Korean population
J Hum Genet. 2002;47(9):473-7.
A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia
J Hum Genet. 2002;47(5):225-8.
Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B
Atherosclerosis. 2001 Dec;159(2):381-9.
Studies on the plasma lipid profiles, and LCAT and CETP activities according to hyperlipoproteinemia phenotypes (HLP)
Ann Neurol. 2001 Jun;49(6):817-8.
Lack of association of the interleukin-1 alpha gene polymorphism with Alzheimer's disease in a Korean population
Neurosci Lett. 2001 Apr 20;302(2-3):69-72.
Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease
J Biomed Opt. 2001 Apr;6(2):177-82.
Data preprocessing and partial least squares regression analysis for reagentless determination of hemoglobin concentrations using conventional and total transmission spectroscopy
Ann Clin Biochem. 2001 Mar;38(Pt 2):129-34.
Apolipoprotein E polymorphism and serum lipoprotein(a) concentrations in a Korean male population
Antimicrob Agents Chemother. 2001 Feb;45(2):480-4.
Carbapenem resistance mechanisms in Pseudomonas aeruginosa clinical isolates
Neurosci Lett. 2000 Aug 11;289(3):230-4.
Effects of apolipoprotein E phenotypes on the neuropsychological functions of community-dwelling elderly individuals without dementia
J Korean Med Sci. 2000 Feb;15(1):83-7.
NRAMP1 gene polymorphisms in patients with rheumatoid arthritis in Koreans
J Clin Microbiol. 1999 Jun;37(6):1758-63.
Survey of extended-spectrum beta-lactamases in clinical isolates of Escherichia coli and Klebsiella pneumoniae: Prevalence of TEM-52 in Korea
J Chem Inf Comput Sci. 1999 Jan-Feb;39(1):112-20.
Application of variable selection for prediction of target concentration
Am J Med Genet. 1999 Apr 16;88(2):113-5.
No association between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease