Kim, Jong-Won Professor

Department of Laboratory Medicine and Genetics

Kim, Jong-Won

Appointment

Professor, Department of Laboratory Medicine, Sungkyunkwan University School of Medicine

Speciality Interests

Schedule

schedule of week
05 THU
01
FRI
02
MON
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TUE
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WEN
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PM

Medical School

Seoul National University College of Medicine

Specialty Training

Specialty Training
Fellowship   Seoul National University Hospital
Post-Doc Fellow in Children Hospital, Cincinnati, Ohio, USA
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

  • ALZHEIMERS DEMENT 2024 10.1002/alz.14416 Tau pathway-based gene analysis on PET identifies CLU and FYN in a Korean cohort Yi, D; Byun, MS; Park, JH; Kim, JW; Jung, G; Ahn, H; Lee, JY; Lee, YS; Kim, YK; Kang, KM; Sohn, CH; Liu, SW; Huang, YN; Saykin, AJ; Lee, DY; Nho, K
    View PubMed
  • COMMUN BIOL 2024 10.1038/s42003-024-07136-y A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint Kim, YG; Kang, H; Lee, B; Jang, HJ; Park, JH; Ha, C; Park, H; Kim, JW
    View PubMed
  • ANN LAB MED 2024 10.3343/alm.2023.0405 Evaluation of Droplet Digital PCR for the Detection of BRAF V600E in Fine-Needle Aspiration Specimens of Thyroid Nodules Min, YK; Kim, JK; Park, KS; Kim, JW
    View PubMed
  • FRONT ONCOL 2024 10.3389/fonc.2024.1463341 Clinical utility of circulating tumor DNA profiling in detecting targetable fusions in non-small cell lung cancer Kim, YG; Lee, B; Ha, C; Lee, C; Jung, HA; Sun, JM; Lee, SH; Ahn, MJ; Choi, YL; Park, S; Kim, JW
    View PubMed
  • PLOS ONE 2024 10.1371/journal.pone.0311665 Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans Hwang, S; Kang, SW; Kim, JW; Kim, SJ
    View PubMed
  • SCI REP-UK 2024 10.1038/s41598-024-76509-4 Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them Jang, MA; Lee, JK; Park, JH; Hwang, S; Kim, YG; Kim, JW; Hong, YJ; Kim, SJ; Jang, JH
    View PubMed
  • GENET EPIDEMIOL 2024 10.1002/gepi.22586 Predicting Lung Cancer in Korean Never-Smokers With Polygenic Risk Scores Kim, J; Park, YS; Kim, JH; Hong, YC; Kim, YC; Oh, IJ; Jee, SH; Ahn, MJ; Kim, JW; Yim, JJ; Won, S
    View PubMed
  • NPJ PRECIS ONCOL 2024 10.1038/s41698-024-00559-0 Long-term oncologic outcomes of unselected triple-negative breast cancer patients according to BRCA1/2 mutations Park, WK; Chung, SY; Jung, YJ; Ha, C; Kim, JW; Nam, SJ; Kim, SW; Yu, J; Chae, BJ; Lee, JE; Kim, SW; Ryu, JM
    View PubMed
  • J MOL DIAGN 2024 10.1016/j.jmoldx.2024.01.004 Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel Lee, JK; Kwon, H; Park, JH; Jang, MA; Kim, YG; Kim, JW; Choi, BO; Jang, JH
    View PubMed
  • CLIN GENET 2024 10.1111/cge.14523 Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years Hwang, N; Kim, SM; Kim, YG; Ha, C; Lee, J; Choi, BO; Sung, WJ; Kim, SH; Kim, YM; Lee, YW; Kim, J; Kim, JW; Jang, JH; Lee, J; Park, HD
    View PubMed
  • CANCER RES TREAT 2024 10.4143/crt.2023.999 Tandem High-Dose Chemotherapy Increases the Risk of Secondary Malignant Neoplasm in Pediatric Solid Tumors Lim, H; Im, M; Seo, ES; Cho, HW; Ju, HY; Yoo, KH; Cho, SY; Kim, JW; Lim, D; Sung, KW; Lee, JW
    View PubMed
  • J HUM GENET 2024 10.1038/s10038-023-01218-1 CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy Ha, C; Kim, D; Bak, M; Park, JH; Kim, YG; Jang, JH; Kim, JW; Choi, JO; Jang, MA
    View PubMed
  • J CLIN LAB ANAL 2024 10.1002/jcla.25009 Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing Kim, JA; Jang, MA; Jang, SY; Kim, DK; Kim, YG; Kim, JW; Park, TK; Jang, JH
    View PubMed
  • LEUKEMIA 2023 10.1038/s41375-023-02122-5 In vitro evidence of synergistic efficacy with asciminib combined with reduced dose of ATP-binding pocket tyrosine kinase inhibitors according to the ABL1 kinase domain mutation profile Han, HJ; Kim, JJ; Pyne, D; Travas, A; Ambalavanan, A; Kimura, S; Deininger, MW; Kim, JW; Kim, DDH
    View PubMed
  • FRONT PEDIATR 2023 10.3389/fped.2023.1204360 Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important Choi, HB; Na, Y; Lee, J; Lee, J; Jang, JH; Kim, JW; Kwon, JY
    View PubMed
  • FRONT GENET 2023 10.3389/fgene.2023.1283611 Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition Ha, C; Jang, JH; Kim, YG; Kim, JW
    View PubMed
  • PEDIATR NEUROL 2023 10.1016/j.pediatrneurol.2023.09.003 Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing Shin, S; Lee, J; Kim, YG; Ha, C; Park, JH; Kim, JW; Lee, J; Jang, JH
    View PubMed
  • J MED GENET 2023 10.1136/jmg-2023-109433 Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines Yoon, E; Lee, JK; Park, TK; Chang, SA; Huh, J; Kim, JW; Kim, DK; Jang, JH
    View PubMed
  • MOL GENET GENOM MED 2023 10.1002/mgg3.2240 Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome Heo, WY; Jang, SY; Park, TK; Ki, CS; Kim, JW; Kim, DK; Jang, JH
    View PubMed
  • FRONT GENET 2023 10.3389/fgene.2022.1087359 Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency Kim, YG; Ha, C; Shin, S; Park, JH; Jang, JH; Kim, JW
    View PubMed
  • ANN SURG TREAT RES 2022 10.4174/astr.2022.103.6.323 Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant Bang, YJ; Kwon, WK; Kim, JW; Lee, JE; Jung, BY; Kim, M; Kim, J; An, J; Jung, SP; Kim, HK; Kim, Z; Youn, HJ; Ryu, JM; Kim, SW
    View PubMed
  • ALLERGY ASTHMA IMMUN 2022 10.4168/aair.2022.14.5.444 Pathogenic Variants Spectrum and Allele Frequency of the CFTR Gene in Asians Kim, J-W
    View PubMed
  • CANCER RES TREAT 2022 10.4143/crt.2021.791 Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients Bang, YJ; Kwon, WK; Nam, SJ; Kim, SW; Chae, BJ; Lee, SK; Ryu, JM; Kim, JW; Yu, J; Lee, JE
    View PubMed
  • ANN LAB MED 2022 10.3343/alm.2022.42.4.473 Performance Evaluation of the PowerChek SARS-CoV-2, Influenza A & B Multiplex Real-Time PCR Kit in Comparison with the BioFire Respiratory Panel Kim, TY; Kim, JY; Shim, HJ; Yun, SA; Jang, JH; Huh, HJ; Kim, JW; Lee, NY
    View PubMed
  • CANCER GENET-NY 2022 10.1016/j.cancergen.2022.05.042 Discovery of BRCA1/BRCA2 founder variants by haplotype analysis Kwon, WK; Jang, HJ; Lee, JE; Park, YH; Ryu, JM; Yu, J; Jang, JH; Kim, JW
    View PubMed
  • J HUM GENET 2022 10.1038/s10038-022-01044-x Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline Kim, JA; Kwon, WK; Kim, JW; Jang, JH
    View PubMed
  • ANN LAB MED 2022 10.3343/alm.2022.42.3.352 Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel-Lindau Disease Yoon, SJ; Kwon, WK; Hong, G; Jang, JH; Jeong, BC; Kim, JH; Kim, JW
    View PubMed
  • FRONT NEUROL 2022 10.3389/fneur.2022.836954 Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability Lee, JW; Shamim, A; Park, J; Jang, JH; Kim, JH; Kwon, JY; Kim, JW; Kim, KK; Lee, JH
    View PubMed
  • ANN LAB MED 2022 10.3343/alm.2022.42.2.141 Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing Shin, S; Woo, HI; Kim, JW; Kim, Y; Lee, KA
    View PubMed
  • ANN LAB MED 2022 10.3343/alm.2022.42.2.274 Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1 Jang, JH; Yoon, SJ; Kim, SK; Cho, JW; Kim, JW
    View PubMed
  • ANN LAB MED 2022 10.3343/alm.2022.42.2.296 A Case of Next-generation Sequencing Gene Testing : Points to be Considered in Testing and Reporting Kim, NK; Kim, JW
    View PubMed
  • CANCER GENET-NY 2022 10.1016/j.cancergen.2022.02.002 Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients Lee, JK; Kwon, WK; Hong, SN; Chang, DK; Kim, HC; Jang, JH; Kim, JW
    View PubMed
  • J CLIN MED 2022 10.3390/jcm11041144 Clinical Utility of Plasma Cell-Free DNA EGFR Mutation Analysis in Treatment-Naive Stage IV Non-Small Cell Lung Cancer Patients Kim, BG; Jang, JH; Kim, JW; Shin, SH; Jeong, BH; Lee, K; Kim, H; Kwon, OJ; Ahn, MJ; Um, SW
    View PubMed
  • CANCERS 2021 10.3390/cancers13215543 Statins Enhance the Molecular Response in Chronic Myeloid Leukemia when Combined with Tyrosine Kinase Inhibitors Jang, HJ; Woo, YM; Naka, K; Park, JH; Han, HJ; Kim, HJ; Kim, SH; Ahn, JS; Kim, T; Kimura, S; Zarabi, S; Lipton, JH; Minden, MD; Jung, CW; Kim, HJ; Kim, JW; Kim, DDH
    View PubMed
  • CANCER SCI 2021 10.1111/cas.15166 Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer Paik, ES; Heo, EJ; Choi, CH; Kim, JH; Kim, JW; Kim, YM; Park, SY; Lee, JW; Kim, JW; Kim, BG
    View PubMed
  • J VIROL METHODS 2021 10.1016/j.jviromet.2021.114304 Comparison of the PowerChek SARS-CoV-2, Influenza A&B, RSV Multiplex Real-time PCR Kit and BioFire Respiratory Panel 2.1 for simultaneous detection of SARS-CoV-2, influenza A and B, and respiratory syncytial virus Kim, TY; Kim, JY; Shim, HJ; Yun, SA; Jang, JH; Huh, HJ; Kim, JW; Lee, NY
    View PubMed
  • GENES-BASEL 2021 10.3390/genes12091308 Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants Ha, C; Kim, JW; Jang, JH
    View PubMed
  • DIAGNOSTICS 2021 10.3390/diagnostics11061022

    Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of EGFR Mutations

    So1, MK; Park, JH; Kim, JW; Jang, JH

    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

    Park1, KS; Lee, W; Seong, MW; Kong, SY; Lee, KA; Ha, JS; Cho, EH; Han, SH; Park, I; Kim, JW

    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

    Park1, JH; Park, I; Youm, EM; Lee, S; Park, JH; Lee, J; Lee, DY; Byun, MS; Lee, JH; Yi, D; Chung, SJ; Park, KW; Choi, N; Kim, SY; Yoon, W; An, H; Kim, KW; Choi, SH; Jeong, JH; Kim, EJ; Kang, H; Lee, J; Kim, Y; Lee, EA; Seo, SW; Na, DL; Kim, JW

    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

    Park1, JH; Lim, SW; Myung, W; Park, I; Jang, HJ; Kim, S; Lee, MS; Chang, HS; Yum, D; Suh, YL; Kim, JW; Kim, DK

    DIAGNOSTICS 2021 10.3390/diagnostics11020370

    Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea

    Hong1, J; Lee, J; Kwon, M; Kim, JY; Kim, JW; Ahn, JS; Im, YH; Park, YH

    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

    Cho1, H; Kim, YE; Chae, W; Kim, KW; Kim, JW; Kim, HJ; Na, DL; Ki, CS; Seo, SW

    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

    Min1, YK; Lee, YK; Nam, SH; Kim, JK; Park, KS; Kim, JW

    PATHOL RES PRACT 2020 10.1016/j.prp.2020.152941

    CDH1 mutations in gastric cancers are not associated with family history

    Choi1, S; Jang, J; Heo, YJ; Kang, SY; Kim, ST; Lee, J; Kang, WK; Kim, JW; Kim, KM

    ANN LAB MED 2020 10.3343/alm.2020.40.3.232

    Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea

    Kim1, J; Kong, SY; Han, SH; Kim, JW; Jeon, CH; Yoo, J

    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

    Kim1, H; Yun, JW; Lee, ST; Kim, HJ; Kim, SH; Kim, JW

    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

    Yun1, JW; Yoon, J; Jung, CW; Lee, KO; Kim, JW; Kim, SH; Kim, HJ

    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

    Park1, J; Kim, JW; Park, H; Park, SY; Kim, TH; Kim, SW; Oh, YL; Chung, JH

    J AFFECT DISORDERS 2019 10.1016/j.jad.2019.04.011

    Heritability estimates of individual psychological distress symptoms from genetic variation

    Kim1, S; Jang, HJ; Myung, W; Kim, K; Cha, S; Lee, H; Cho, SK; Kim, B; Ha, TH; Kim, JW; Kim, DK; Stahl, EA; Won, HH

    PLoS One 2019 10.1371/journal.pone.0218968

    Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation

    Woo1, YM; Kim, S; Park, JH; Lee, NY; Kim, JW; Kim, DDH

    LEUKEMIA 2019 10.1038/s41375-018-0321-8

    HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia

    Park1, JH; Woo, YM; Youm, EM; Hamad, N; Won, HH; Naka, K; Park, EJ; Park, JH; Kim, HJ; Kim, SH; Kim, HJ; Ahn, JS; Sohn, SK; Moon, JH; Jung, CW; Park, S; Lipton, JH; Kimura, S; Kim, JW; Kim, D

    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

    Park1, JE; Park, S; Jang, SY; Park, SH; Kim, JW; Ki, CS; Kim, DK

    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

    Ryu1, JM; Choi, HJ; Kim, I; Nam, SJ; Kim, SW; Yu, J; Lee, SK; Choi, DH; Park, YH; Kim, JW; Seo, JS; Park, JH; Lee, JE; Kim, SW

    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

    Lee1, ES; Jang, MA; Kim, HD; Park, JE; Kim, JW; Ohn, YH

    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

    Kang1, Y; Nam, SH; Park, KS; Kim, Y; Kim, JW; Lee, E; Ko, JM; Lee, KA; Park, I

    EUR J HAEMATOL 2018 10.1111/ejh.13076

    A novel type of+2-base pair frameshift CALR mutation in a patient with myeloproliferative neoplasm

    Kim1, HY; Kim, JW; Kim, SH; Chang, MH; Kim, HJ

    MENOPAUSE 2018 10.1097/GME.0000000000001140

    Menopausal hormone therapy and mild cognitive impairment: a randomized, placebo-controlled trial

    Yoon1, BK; Chin, J; Kim, JW; Shin, MH; Ahn, S; Lee, DY; Seo, SW; Na, DL

    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

    Ko1, JM; Park, KS; Kang, Y; Nam, SH; Kim, Y; Park, I; Chae, HW; Lee, SM; Lee, KA; Kim, JW

    ANN LAB MED 2018 10.3343/alm.2018.38.4.291

    Principles of Genetic Counseling in the Era of Next-Generation Sequencing

    Yang1, M; Kim, JW

    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

    Yoo1, IY; Song, JS; Ki, CS; Kim, JW; Cha, HS; Min, YK

    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

    Huh1, HJ; Kim, JY; Kwon, HJ; Yun, SA; Lee, MK; Ki, CS; Lee, NY; Kim, JW

    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

    Choi1, R; Lee, J; Park, HD; Park, JE; Kim, YH; Ki, CS; Lee, SY; Song, J; Kim, JW; Lee, DH

    ANN LAB MED 2017 10.3343/alm.2017.37.5.462

    Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome

    Jang1, MS; Lee, YM; Ko, BM; Kang, G; Kim, JW; Hong, YH

    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

    Kim JW1161, Cox DG117, Delattre O118, Mirabeau O118, Skibola CF119, Tang CS120, Garcia-Barcelo M120, Chang KP121, Su WH122, Chang YS123, Martin NG14, Gordon S14, Wade TD124, Lee C125, Kubo M126, Cha PC127, Nakamura Y128, Levy D129, Kimura M6

    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

    Choi R11, Park HD2, Ko JM3, Lee J4, Lee DH4, Hong SJ5, Ki CS1, Lee SY1, Kim JW1, Song J6, Choe YH7.

    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

    Huh HJ11, Park JE1, Kim JY2, Yun SA2, Lee MK1, Lee NY1, Kim JW1, Ki CS3.

    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

    Huh HJ11, Kim JY2, Kwon HJ2, Yun SA2, Lee MK1, Lee NY1, Kim JW1, Ki CS3.

    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

    Huh HJ11, Ko JH2, Kim YE1, Park CH1, Hong G1, Choi R1, Yu S1, Cho SY2,3, Kang JM4, Lee MK1, Ki CS5, Kang ES1, Lee NY1, Kim JW1, Kim YJ3,4, Ha YE2, Kang CI2, Chung DR2, Peck KR2, Song JH2.

    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

    Choi R1, Park HD, Yang M, Ki CS, Lee SY, Kim JW, Song J, Chang YS, Park WS

    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

    Park KJ11, Park JH1, Park JH2, Cho EB3, Kim BJ4, Kim JW1,5.

    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

    Park KJ11, Park HK2, Kim YJ2, Lee KR2, Park JH1, Park JH3, Park HD4, Lee SY4, Kim JW1,5.

    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

    Park KS11, Cho EY2, Nam SJ3, Ki CS4, Kim JW4.

    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

    Huh HJ1, Kim JY, Lee MK, Lee NY, Kim JW, Ki CS

    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

    Yoo EH11, Park KJ2,3, Won HH2,3, Park JH2,3, Park JH2,3, Lee ST4, Kim HJ4, Bang SM5, Chi HS6, Jung CW7, Kim SH4, Yun H8, Sun CH8, Park I8, Lee S8, Lee C9, Merriman B9, Luo R10, Tan EH10, Park KJ11, Yoo NK11, Kang JJ9, Kim JW12.

    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

    Yoon SC11, Jang YL2, Kim JW3, Cho EY4, Park DY5, Hong KS1, Lee YS6.

    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

    Park KJ11, Park S2, Lee E2, Park JH1, Park JH3, Park HD4, Lee SY4, Kim JW1,5.

    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

    Park JE11, Kim JY2, Yun SA2, Lee MK1, Huh HJ3, Kim JW1, Ki CS4.

    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

    Park KJ11, Lee J2, Park JH2, Joh JW3, Kwon CH3, Kim JW1,4.

    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

    Park KJ11, Choi HJ2, Suh SP2, Ki CS3, Kim JW1,4.

    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

    Jang MA11, Kim YE2, Kim SK3, Lee MK3, Kim JW3, Ki CS3.

    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

    Park CH11, Lee KO2, Jang JH3, Jung CW3, Kim JW1, Kim SH1, Kim HJ1.

    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

    Shin SY11, Lee ST2, Kim HJ3, Cho EH4, Kim JW3, Park S5, Jung CW5, Kim SH3.

    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

    Kim TH11, Jeong DJ1, Hahn SY2, Shin JH2, Oh YL3, Ki CS4, Kim JW4, Jang JY1, Cho YY1, Chung JH1, Kim SW1.

    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

    Choi R11, Park HD2, Kang B3, Choi SY3, Ki CS1, Lee SY1, Kim JW1, Song J4, Choe YH5.

    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

    Shin SY11, Ki CS1, Kim HJ1, Kim JW1, Kim SH1, Lee ST1.

    Transl Psychiatry. 2015 Sep 8;5:e633. doi: 10.1038/tp.2015.127.

    A genome-wide association study of antidepressant response in Koreans

    Myung W11,2, Kim J3, Lim SW2,3, Shim S3, Won HH3, Kim S4, Kim S1,2, Lee MS5, Chang HS6, Kim JW2,7, Carroll BJ8, Kim DK9,2.

    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

    Lee J1, Kim Y, Jeong Y, Na DL, Kim JW, Lee KH, Lee D.

    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

    Lee MN11, Kang B, Choi SY, Kim MJ, Woo SY, Kim JW, Choe YH, Lee SY.

    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

    Kim B11, Lee MN1, Park HD1, Kim JW1, Chang YS2, Park WS2, Lee SY3.

    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

    Jung YJ11, Kwon HJ2, Huh HJ3, Ki CS4, Lee NY1, Kim JW1.

    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

    Choi R11, Park KS1, Kim JW1, Ki CS2.

    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

    Yang JS11, Min HK1, Oh HJ2, Woo HI3, Lee SY4, Kim JW3, Song J5, Park HD3.

    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

    Huh HJ11, Jang MA1, Seo JY2, Kim JY3, Ki CS1, Kim JW1, Lee NY1.

    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

    Lee M11, Choi JO2, Yun SH2, Ju ES2, Lee YJ2, Kim JW3, Lim BK4, Jeon ES5.

    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

    Hong G11, Park HD2, Choi R1, Jin DK3, Kim JH4, Ki CS1, Lee SY1, Song J5, Kim JW1.

    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

    Yoon CW11, Kim YE2, Seo SW3, Ki CS4, Choi SH1, Kim JW2, Na DL5.

    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

    Song JS11, Kim KA2, Min JH3, Ki CS4, Kim JW1, Sung DH5, Kim BJ6.

    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

    Park KS11, Oh YL2, Ki CS3, Kim JW1.

    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

    Lee MN11, Kang B, Choi SY, Kim MJ, Woo SY, Kim JW, Choe YH, Lee SY.

    No items found.

    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

    Choi R11, Woo HI2, Choe BH3, Park S4, Yoon Y4, Ki CS1, Lee SY1, Kim JW1, Song J5, Kim DS6, Kwon S6, Park HD7.

    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

    Kang SY11, Park CK, Chang DK, Kim JW, Son HJ, Cho YB, Yun SH, Kim HC, Kwon M, Kim KM.

    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

    Shin SY11, Lee ST1, Kim HJ1, Ki CS1, Jung CW2, Kim JW1, Kim SH1.

    Pharmacogenet Genomics. 2015 Mar;25(3):143-6. doi: 10.1097/FPC.0000000000000117.

    Complete sequence-based screening of TPMT variants in the Korean population

    Kim HY11, Lee SH, Lee MN, Kim JW, Kim YH, Kim MJ, Lee YM, Kang B, Choe YH, Lee NH, Kim DH, Yoo KH, Sung KW, Lee SY, Koo HH.

    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

    Jang MA11, Kim EK2, Now H3, Nguyen NT3, Kim WJ3, Yoo JY3, Lee J4, Jeong YM5, Kim CH5, Kim OH6, Sohn S7, Nam SH8, Hong Y8, Lee YS8, Chang SA2, Jang SY2, Kim JW1, Lee MS9, Lim SY10, Sung KS11, Park KT12, Kim BJ13, Lee JH14, Kim DK2, Kee C15, Ki CS16.

    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

    Yun JW11, Jo KI, Woo HI, Lee SY, Ki CS, Kim JW, Song J, Lee DH, Lee YW, Park HD.

    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

    Choi R1, Jo KI, Ko DH, Lee DH, Song J, Jin DK, Ki CS, Lee SY, Kim JW, Lee YW1, Park HD.

    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

    Huh HJ11, Park KS1, Kim JY2, Kwon HJ2, Kim JW1, Ki CS3, Lee NY1.

    Ann Clin Lab Sci. 2014 Summer;44(3):317-23.

    Two Novel FAH Gene Mutations in a Patient with Hereditary Tyrosinemia Type I

    Choi HJ11, Bang HI2, Ki CS1, Lee SY1, Kim JW1, Song J3, Shin MR4, Lee YW5, Lee DH6, Park HD7.

    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

    Woo HI1, Kim SW, Ki CS, Shin JH, Oh YL, Kim JW, Chung JH.

    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

    Choi R11, Kim GM, Jo IJ, Sim MS, Song KJ, Kim BJ, Na DL, Huh HJ, Kim JW, Ki CS, Lee NY.

    Am J Surg Pathol. 2014 Jun;38(6):784-92. doi: 10.1097/PAS.0000000000000185.

    Pyloric Gland Adenoma in Lynch Syndrome

    Lee SE11, Kang SY, Cho J, Lee B, Chang DK, Woo H, Kim JW, Park HY, Do IG, Kim YE, Kushima R, Lauwers GY, Park CK, Kim KM.

    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

    Jang JH11, Lee K, Cho EH, Lee EH, Kim JW, Ki CS.

    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

    Kim YE11, Yoon CW, Seo SW, Ki CS, Kim YB, Kim JW, Bang OY, Lee KH, Kim GM, Chung CS, Na DL.

    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

    Kim HJ11, Seo JY, Lee KO, Bang SH, Lee ST, Ki CS, Kim JW, Jung CW, Kim DK, Kim SH.

    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

    Kim HY11, Kim JW1, Kim MJ2, Lee YM2, Kang B2, Choe YH3, Lee SY4.

    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

    Jang JH11, Lee JW, Cho EH, Lee EH, Kim JW, Ki CS.

    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

    Seo JY1, Park HD, Kim JW, Oh HJ, Yang JS, Chang YS, Park WS, Lee SY.

    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

    Jun G11, Asai H, Zeldich E, Drapeau E, Chen C, Chung J, Park JH, Kim S, Haroutunian V, Foroud T, Kuwano R, Haines JL, Pericak-Vance MA, Schellenberg GD, Lunetta KL, Kim JW, Buxbaum JD, Mayeux R, Ikezu T, Abraham CR, Farrer LA.

    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

    Lim SW11, Won HH1, Kim H2, Myung W2, Kim S3, Kim KK4, Carroll BJ5, Kim JW4, Kim DK2.

    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

    Choi HJ11, Ki CS2, Suh SP1, Kim JW2.

    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

    Woo HI11, Woo YM2, Kim S3, Lee ST4, Ki CS4, Kim JW5.

    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

    Kim J11, Kim JW, Kim Y, Lee KA.

    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

    Han SH11, Kim JS, Lee Y, Choi H, Kim JW, Na DL, Yang EG, Yu MH, Hwang D, Lee C, Mook-Jung I.

    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

    Park KJ1, Woo YM, Kim K, Lee ST, Ki CS, Kim HJ, Kim SH, Kim JW.

    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)

    Kim HJ11, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW.

    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

    Jee MJ11, Yoon SM, Kim EJ, Choi HJ, Kim JW, Sung RH, Han JH, Chae HB, Park SM, Youn SJ.

    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

    Miyashita A1, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, Higuchi S, Ikeuchi T, Nishizawa M, Suga M, Kawase Y, Akatsu H, Kosaka K, Yamamoto T, Imagawa M, Hamaguchi T, Yamada M, Morihara T, Takeda M, Takao T, Nakata K, Fujisawa Y, Sasaki K, Watanabe K, Nakashima K, Urakami K, Ooya T, Takahashi M, Yuzuriha T, Serikawa K, Yoshimoto S, Nakagawa R, Kim JW, Ki CS, Won HH, Na DL, Seo SW, Mook-Jung I; Alzheimer Disease Genetics Consortium, St George-Hyslop P, Mayeux R, Haines JL, Pericak-Vance MA, Yoshida M, Nishida N, Tokunaga K, Yamamoto K, Tsuji S, Kanazawa I, Ihara Y, Schellenberg GD, Farrer LA, Kuwano R.

    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

    Won HH11, Kim JW, Lee D.

    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

    Yang SJ11, Lee ST, Kim WJ, Park SE, Park SW, Kim JW, Park CY.

    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

    Lee ST11, Kim SW, Ki CS, Jang JH, Shin JH, Oh YL, Kim JW, Chung JH.

    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

    Jang MA1, Lee ST, Oh YL, Kim SW, Chung JH, Ki CS, Kim JW.

    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

    Lee ST11, Ji Y, Kim HJ, Ki CS, Jung CW, Kim JW, Kim SH.

    Hum Mutat. 2012 Apr;33(4):E2332-40. doi: 10.1002/humu.22039.

    KMD: Korean mutation database for genes related to diseases

    Park MH11, Koo SK, Lee JS, Yoo HW, Kim JW, Cheong HI, Park HY.

    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

    Ahn MJ11,?Won HH,?Lee J,?Lee ST,?Sun JM,?Park YH,?Ahn JS,?Kwon OJ,?Kim H,?Shim YM,?Kim J,?Kim K,?Kim YH,?Park JY,?Kim JW,?Park K.

    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

    Jang JH11, Lee JE, Kwon MJ, Ki CS, Kim JW, Nam SJ, Yang JH.

    BMB Rep. 2011 Nov;44(11):725-9.

    Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma

    Kim S11, Ki CS, Kim KM, Lee MG, Kim S, Bae JM, Kim JW.

    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

    Shrif NE11, Won HH, Lee ST, Park JH, Kim KK, Kim MJ, Kim S, Lee SY, Ki CS, Osman IM, Rhman EA, Ali IA, Idris MN, Kim JW.

    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

    Kim JH1, Lim IS, Choi ES, Lee HI, Kim BJ, Kim MN, Lee ST, Kim HJ, Kim JW, Ki CS, Kim BJ.

    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

    Cho EH1, Lee EH, Kim SH, Kim EY, Kim JW.

    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

    Choi BO11, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Z?chner S, Chung KW.

    J Alzheimers Dis. 2011;25(1):77-84. doi: 10.3233/JAD-2011-102145.

    Human Serum Transthyretin Levels Correlate Inversely with Alzheimer's Disease

    Han SH11, Jung ES, Sohn JH, Hong HJ, Hong HS, Kim JW, Na DL, Kim M, Kim H, Ha HJ, Kim YH, Huh N, Jung MW, Mook-Jung I.

    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

    Kim DH11, Lee ST, Won HH, Kim S, Kim MJ, Kim HJ, Kim SH, Kim JW, Kim HJ, Kim YK, Sohn SK, Moon JH, Jung CW, Lipton JH.

    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

    Han SH11, Chang YJ, Jung ES, Kim JW, Na DL, Mook-Jung I.

    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

    Sung HJ11, Ahn JM, Yoon YH, Rhim TY, Park CS, Park JY, Lee SY, Kim JW, Cho JY.

    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

    Um TH11, Lee EH, Chi HS, Kim JW, Hong YJ, Cha YJ.

    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

    Lee MJ11, Chung KH, Park JS, Chung H, Jang HC, Kim JW.

    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

    Kang TW11, Kim HJ, Ju H, Kim JH, Jeon YJ, Lee HC, Kim KK, Kim JW, Lee S, Kim JY, Kim SY, Kim YS.

    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

    Won HH11, Kim JW, Kim MJ, Kim S, Park JH, Lee KA.

    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

    Kim YH11, Lee YW, Jeon BR, Lee YK, Shin HB, Kang DH, Park SK, Hong DS, Lee ST, Kim JW, Ki CS.

    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

    Choe YJ11, Ko JS, Seo JK, Han JJ, Shim JO, Koh YY, Lee R, Ki CS, Kim JW, Kim JH.

    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

    Ko JS11, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW.

    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

    Jung H11, Lee E, Kim JW, Lee D.

    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

    Lee E11, Jung H, Radivojac P, Kim JW, Lee D.

    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

    Kim KK11, Won HH, Cho SS, Park JH, Kim MJ, Kim S, Kim JW.

    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

    Won HH11, Lee S, Jang E, Kim KK, Park YK, Kim YJ, Kim YS, Kim BY, Kim JY, Kim JW.

    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

    Hong KS11, Won HH, Cho EY, Jeun HO, Cho SS, Lee YS, Park DY, Jang YL, Choi KS, Lee D, Kim MJ, Kim S, Han WS, Kim JW.

    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

    Cho HJ11, Ki CS, Kim JW.

    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

    Won HH11, Park I, Lee E, Kim JW, Lee D.

    Front Biosci (Landmark Ed). 2009 Jan 1;14:3879-83.

    Identification of autoantibody against beta-amyloid peptide in the serum of elderly

    Sohn JH11, So JO, Hong HJ, Kim JW, Na DR, Kim M, Kim H, Nam E, Ha HJ, Kim YH, Mook-Jung I.

    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

    Lee E11, Chuang HY, Kim JW, Ideker T, Lee D.

    PLoS One. 2008;3(10):e3575. doi: 10.1371/journal.pone.0003575. Epub 2008 Oct 30.

    Cataloging Coding Sequence Variations in Human Genome Databases

    Won HH11, Kim HJ, Lee KA, Kim JW.

    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

    Won HH11, Kim MJ, Kim S, Kim JW.

    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

    Kong SY11, Ki CS, Yoo BC, Kim JW.

    J Child Neurol. 2007 Nov;22(11):1297-300.

    Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome

    Jong Hee Chae11, Ki Joong Kim, Yong Seung Hwang, Ki CS, Kim JW.

    Pharmacogenomics. 2007 Oct;8(10):1347-57.

    Effectiveness of in silico tagSNP methods: virtual analysis of the pharmacogenetic genes

    Nam MH11, Won HH, Lee KA, Kim JW.

    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)

    Kim HJ11, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW.

    Headache. 2007 Jul-Aug;47(7):1056-62.

    Association between a polymorphism in the lymphotoxin_a promoter region and migraine

    Lee KA11, Jang SY, Sohn KM, Won HH, Kim MJ, Kim JW, Chung CS.

    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

    Lee SY11, Nam MH, Kim JS, Kim JW.

    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

    Lee KA11, Sohn KM, Cho SH, Hwang H, Kim SW, Won HH, Kim HJ, Kim MJ, Cho SS, Park JH, Kim JW.

    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

    Lee SY11, Lee ST, Kim JW.

    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

    Lee KA11, Park JH, Sohn TS, Kim S, Rhee JC, Kim JW.

    Exp Mol Med. 2006 Dec 31;38(6):662-7.

    Heterozygosities of 735 microsatellite markers and background linkage disequilibrium in the Korean population

    Lee KA11, Kim JW.

    J Korean Med Sci. 2006 Oct;21(5):954-7.

    A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis

    Lee JM11, Kim AS, Lee SJ, Cho SM, Lee DS, Choi SM, Kim DK, Ki CS, Kim JW.

    Hum Psychopharmacol. 2006 Aug;21(6):409-12.

    Pharmacokinetic parameters of bromperidol in Korean subjects

    Lee SY11, Kim YG, Kim HG, Kim JW.

    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

    Kim IS1, Kim HJ, Choung HS, Jung CW, Kim JW, Kim SH.

    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)

    Lee SY11, Chun MR, Kim DJ, Kim JW.

    Ther Drug Monit. 2006 Jun;28(3):382-7.

    Sequence-based CYP2D6 genotyping in the Korean population

    Lee SY11, Sohn KM, Ryu JY, Yoon YR, Shin JG, Kim JW.

    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

    Kim JW11, Lee YS, Cho EY, Jang YL, Park DY, Choi KS, Jeun HO, Cho SH, Jang SY, Hong KS.

    Thyroid. 2006 Mar;16(3):237-41.

    Lack of a genetic association between the CTLA-4 gene and Graves' disease in Koreans

    Cho HJ11, Chung JH, Kim IS, Kim HJ, Cho SH, Ki CS, Kim JW.

    Int J Cancer. 2005 Dec 20;117(6):957-60.

    TP53BP2 locus is associated with gastric cancer susceptibility

    Ju H11, Lee KA, Yang M, Kim HJ, Kang CP, Sohn TS, Rhee JC, Kang C, Kim JW.

    J Korean Med Sci. 2005 Dec;20(6):1089-92.

    GSTM1, GSTT1 and GSTP1 polymorphisms in the Korean population

    Cho HJ11, Lee SY, Ki CS, Kim JW.

    Yonsei Med J. 2005 Dec 31;46(6):843-6.

    A case of intolerance to warfarin dosing in an intermediate metabolizer of CYP2C9

    Lee SY11, Kim JS, Kim JW.

    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

    Han SH11, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW.

    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

    Kim HJ11, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW.

    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

    Ensenauer R11, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH.

    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

    Yoon HR11, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH.

    Exp Mol Med. 2005 Feb 28;37(1):11-7.

    Genetic polymorphism of CYP17 and breast cancer risk in Korean women

    Shin MH11, Lee KM, Yang JH, Nam SJ, Kim JW, Yoo KY, Park SK, Noh DY, Ahn SH, Kim B, Kang D.

    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

    Kong SY11, Ki CS, Kim HJ, Lee KO, Bae JC, Kim SH, Kim JW.

    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

    Lee SY11, Ki CS, Hong KS, Kim JW.

    Mol Cells. 2004 Aug 31;18(1):63-70.

    Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia

    Kim JH11, Choi HK, Lee H, Park HY, Kim JH, Kim JW, Kim HJ, Lee ST.

    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

    Ki CS11, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, Choe YH, Seo JK, Chang YJ, Park JY.

    J Gastroenterol. 2004;39(5):429-33.

    Novel interleukin 1 beta polymorphism increased the risk of gastric cancer in a Korean population

    Lee KA11, Ki CS, Kim HJ, Sohn KM, Kim JW, Kang WK, Rhee JC, Song SY, Sohn TS.

    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

    Joo IS11, Ki CS, Joo SY, Huh K, Kim JW.

    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

    Ki CS11, Lee KA, Lee SY, Kim HJ, Cho SS, Park JH, Cho S, Sohn KM, Kim JW.

    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

    Choi YH11, Kim JH, Kim DK, Kim JW, Kim DK, Lee MS, Kim CH, Park SC.

    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

    Kim JS11, Han SR, Chung SW, Kim BS, Lee KS, Kim YI, Yang DW, Kim KS, Kim JW.

    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

    Ki CS11, Kong SY, Seo DW, Hong SB, Kim HJ, Kim JW.

    Clin Chem. 2002 May;48(5):775-7.

    Complete sequencing of a genetic polymorphism in NAT2 in the Korean population

    Lee SY11, Lee KA, Ki CS, Kwon OJ, Kim HJ, Chung MP, Suh GY, Kim JW.

    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

    Ki CS11, Na DL, Kim DK, Kim HJ, Kim JW.

    Clin Chem Lab Med. 2002 Jul;40(7):689-92.

    Frequencies of C28Y and H63D mutations and transferrin saturation indices in the Korean population

    Choi SJ11, Min WK, Chun S, Park H, Kim JW, Park CJ, Chi HS.

    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

    Ki CS11, Lee WY, Han DH, Sung DH, Lee KB, Lee KA, Cho SS, Cho S, Hwang H, Sohn KM, Choi YJ, Kim JW.

    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

    Ki CS11, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW.

    J Biomed Opt. 2002 Jan;7(1):45-50.

    Noninvasive total hemoglobin measurement

    Jeon KJ11, Kim SJ, Park KK, Kim JW, Yoon G.

    Atherosclerosis. 2001 Dec;159(2):381-9.

    Studies on the plasma lipid profiles, and LCAT and CETP activities according to hyperlipoproteinemia phenotypes (HLP)

    Lee M11, Kim JQ, Kim J, Oh H, Park M.

    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

    Ki CS1, Na DL, Kim DK, Kim HJ, Kim JW.

    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

    Ki CS11, Na DL, Kim HJ, Kim JW.

    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

    Kim YJ11, Kim S, Kim JW, Yoon G.

    Ann Clin Biochem. 2001 Mar;38(Pt 2):129-34.

    Apolipoprotein E polymorphism and serum lipoprotein(a) concentrations in a Korean male population

    Chun S11, Min WK, Kim JW, Park H, Jang S, Yang SE, Kim JQ.

    Antimicrob Agents Chemother. 2001 Feb;45(2):480-4.

    Carbapenem resistance mechanisms in Pseudomonas aeruginosa clinical isolates

    Pai H11, Kim J, Kim J, Lee JH, Choe KW, Gotoh N.

    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

    Chey J11, Kim JW, Cho HY.

    J Korean Med Sci. 2000 Feb;15(1):83-7.

    NRAMP1 gene polymorphisms in patients with rheumatoid arthritis in Koreans

    Yang YS11, Kim SJ, Kim JW, Koh EM.

    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

    Pai H11, Lyu S, Lee JH, Kim J, Kwon Y, Kim JW, Choe KW.

    J Chem Inf Comput Sci. 1999 Jan-Feb;39(1):112-20.

    Application of variable selection for prediction of target concentration

    Hasegawa K11, Kimura T, Funatsu K.

    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

    Ki CS11, Na DL, Kim JW, Kim HJ, Kim DK, Yoon BK.

    CLOSE

    Patients' Rights and Responsibilities

    Patients' Rights

    1. Right to receive medical care

    Patients have the right to receive proper care in a safe setting without discrimination nor should their right to care be violated regardless of their gender, age, religion, social status, nationality, language, race, or physical/mental/financial status. Medical teams shall not refuse to provide care without justifiable reason.

    2. Right to be informed and to make an autonomous decision

    Patients have the right to obtain full and complete information from their medical team, to ask questions, and to determine their agreement or refusal concerning: diagnosis, treatment (purpose, plans and methods), outcomes of care (including unanticipated outcomes), discharge plan, participation in medical research studies, organ transplantation/donation, etc. Within ethical boundaries, patients may discontinue or refuse treatment, request that the medical team explain and suggest alternative treatments, and reserve the right to make their own decisions.

    3. Right to confidentiality

    Patients' rights to confidentiality regarding their physical/health status and privacy will not be violated. Patients can expect that all medical records/reports and their personal privacy will be kept confidential unless the patient has given consent or disclosure is permitted by law. To ensure their privacy, patients may be informed that Individuals not directly involved in their care may not be present and that the number of guardians accompanying patients to consultation rooms may be limited.

    4. Right to request consultation and mediation

    In the event of a medical dispute, patients may request consultation and mediation from an internal or external agency (Korea Consumer Agency, Korea Medical Dispute Mediation and Arbitration Agency).

    5. Right to have values and beliefs respected

    Patients will not be discriminated against because of their culture, religious values, or beliefs, and their rights will not be violated.

    6. Right to receive care in a safe setting

    Patients have the right to receive hospital-provided care where the patient’s medical information is protected and patient safety can be assured. In addition, patients have the right to be protected from possible dangers that can occur in a hospital and to have stability of mind and body.

    Patients' Responsibilities

    1. Responsibility to trust and respect the medical team

    Patients must accurately inform the medical team of their health condition and must trust and respect the medical team's treatment plan. Patients may be responsible for consequences that result from not following instructions.

    2. Responsibility to not use dishonest methods for medical treatment

    Patients must reveal their identity before receiving any medical care and must not use false or dishonest methods, such as seeking medical care under disguised ownership.

    3. Responsibility to abide by all hospital regulations

    Patients are expected to treat all hospital staff and other patients with courtesy and respect; to abide by all hospital rules; and to earnestly fulfill their financial obligation to the hospital. Also, patients and their family members are expected to participate in all safety regulations.