삼성서울병원

Ko En
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진단검사의학과 김종원 교수

진료분야
진단분자유전학, 암유전학, 유전상담
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진료일정 05 月
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본원외래 본원클리닉 본원육아상담 암병원외래 암병원클리닉 암병원육아상담

학력

학력
1993.08 서울대학교 대학원 의학과 (의학박사)
1992.08 서강대학교 정보처리학과 (이학석사)
1990.02 서울대학교 대학원 의학과 (의학석사)
1985.02 서울대학교 의과대학 졸업 (의학사)
1981.02 서울대학교 자연과학대 의예과 수료

경력

경력
2021.04 ~현재 삼성서울병원 임상유전체검사 센터장
2006.10 ~현재 성균관대학교 의과대학 진단검사의학과 교수
1994.06 ~현재 삼성서울병원 진단검사의학과 전문의
2012.05 ~ 2017.00 보건복지부지정 희귀대사질환 차세대 진료기술 개발센터 센터장
2008.08 ~ 2011.10 성균관대학교 의과대학 진단검사의학과 과장
2000.09 ~ 2009.09 성균관대학교 의과대학 진단검사의학과 부교수
1997.03 ~ 2000.08 성균관대학교 의과대학 진단검사의학과 조교수
1992.10 ~ 1994.05 미국 신시네티 어린이병원(인간유전학과) 박사 후 연구원
1992.09 ~ 1993.08 충북대학교 의과대학 임상병리과 조교수
1990.09 ~ 1992.08 충북대학교 의과대학 임상병리과 전임강사
1990.03 ~ 1990.08 서울대학교병원 임상병리과 전임의
1990.03 임상병리과 전문의 자격 취득
1986.03 ~ 1990.02 서울대학교병원 임상병리과 레지던트 과정 수료
1985.02 ~ 1986.02 서울대학교병원 인턴과정 수료
논문
  • 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
  • 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.2022.42.2.274 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
  • 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
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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
    View PubMed
  • 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.
    View PubMed
  • 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
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  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • Hum Psychopharmacol. 2006 Aug;21(6):409-12. Pharmacokinetic parameters of bromperidol in Korean subjects Lee SY11, Kim YG, Kim HG, Kim JW.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • J Biomed Opt. 2002 Jan;7(1):45-50. Noninvasive total hemoglobin measurement Jeon KJ11, Kim SJ, Park KK, Kim JW, Yoon G.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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  • 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.
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