삼성서울병원

Ko En
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진단검사의학과 김희진 교수

진료분야
진단혈액, 혈액유전학, 응고유전, 유전상담
진료일정 04 月
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오전
오후
진료일정 05 月
날짜
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목
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토
04
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05
월
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오후
본원외래 본원클리닉 본원육아상담 암병원외래 암병원클리닉 암병원육아상담

학력

학력
2007.08 성균관대학교 대학원 의학과(의학 박사)
2001.02 서울대학교 대학원 의학과 (석사)
1996.02 서울대학교 의과대학 졸업 (의학사)
1992.02 서울대학교 자연과학대학 의예과 수료

경력

경력
2018.03 ~현재 삼성서울병원 진단검사의학과 교수
2012.04 ~ 2018.02 삼성서울병원 진단검사의학과 부교수
2012.08 ~ 2013.07 미국국립보건원(NIH) Research Scholar
2008.03 ~ 2013.03 삼성서울병원 진단검사의학과 조교수
2005.11 ~ 2008.02 삼성서울병원 진단검사의학과 임상조교수
2004.10 ~ 2005.10 삼성서울병원 진단검사의학과 임상전임의
2003.09 ~ 2004.08 미국 시카고대학/대학병원 Research Associate
2003.03 ~ 2003.08 삼성서울병원 진단검사의학과 연구전임의
2002.03 ~ 2003.02 삼성서울병원 진단검사의학과 임상전임의
2002.02 임상병리과 (現 진단검사의학과) 전문의자격 취득
1998.03 ~ 2002.02 서울대학교병원 임상병리과 레지던트과정 수료
1996.03 ~ 1997.02 서울대학교병원 인턴과정 수료

학회활동

학회활동
대한조혈모세포이식학회 정회원
대한진단검사의학회 정회원
대한혈액학회 정회원
세계혈전지혈학회 정회원
한국혈전지혈학회 정회원

수상이력

수상이력
2014.05 대한혈액학회 학술상
2013.10 대한진단검사의학회 우수연구자상
2013.09 한국혈전지혈학회 추계학술대회 최우수연제상
2011.05 대한혈액학회지 우수심사자상
2007.11 대한의학회주관 분쉬의학상 젊은의학자상
2006.09 아시아태평양 혈전지혈학회 젊은연구자상
논문
  • J CLIN MED 2023 10.3390/jcm12247651 Genetic Characteristics of Patients with Young-Onset Myelodysplastic Neoplasms Kim, HY; Yoo, KH; Jung, CW; Kim, HJ; Kim, SH
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  • ANN LAB MED 2023 10.3343/alm.2023.43.3.310 The First Case of Acute Myeloid Leukemia With t(10;11)(p13;q21);PICALM-MLLT10 Rearrangement Presenting With Extensive Skin Involvement Park, MS; Kim, HY; Lee, JJ; Cho, DC; Jung, CW; Kim, HJ; Kim, SH
    View PubMed
  • ANN LAB MED 2023 10.3343/alm.2023.43.2.204 The First Case of Acute Myeloid Leukemia With Underlying Fanconi Anemia due to FANCF Variants Suh, E; Shin, S; Ju, HY; Yoo, KH; Kim, HY; Cho, DC; Kim, SH; Kim, HJ
    View PubMed
  • FRONT ONCOL 2023 10.3389/fonc.2023.1109715 In-depth circulating tumor DNA sequencing for prognostication and monitoring in natural killer/T-cell lymphomas Kim, JJ; Kim, HY; Choi, Z; Hwang, SY; Jeong, H; Choi, JR; Yoon, SE; Kim, WS; Kim, SH; Kim, HJ; Shin, SY; Lee, ST; Kim, SJ
    View PubMed
  • DIAGNOSTICS 2022 10.3390/diagnostics12112570 Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms Kim, HY; Han, Y; Jang, JH; Jung, CW; Kim, SH; Kim, HJ
    View PubMed
  • ANN LAB MED 2022 10.3343/alm.2022.42.5.558 Clinical Utility of Next-Generation Flow-Based Minimal Residual Disease Assessment in Patients with Multiple Myeloma Kim, HY; Yoo, IY; Lim, DJ; Kim, HJ; Kim, SH; Yoon, SE; Kim, SJ; Cho, D; Kim, K
    View PubMed
  • CLIN TRANSL MED 2022 10.1002/ctm2.964 Metabolic subtype reveals potential therapeutic vulnerability in acute promyelocytic leukaemia Sung, JY; Yun, WB; Kim, HY; Kim, HJ; Choi, JR; Kim, SH; Jung, CW; Lee, ST
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  • MEDICINE 2022 10.1097/MD.0000000000029013 Severe dysplasminogenemia due to homozygous PLG Ala620Thr variant in a Korean woman without a history of venous thromboembolism A case report and literature review Lee, B; Kim, S; Lee, JJ; Heo, SH; Chung, S; Jang, SY; Kim, SH; Kim, DK; Kim, HJ
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  • RETINA-J RET VIT DIS 2022 10.1097/IAE.0000000000003296 OCULAR MANIFESTATIONS OF ASP38ALA AND THR59LYS FAMILIAL TRANSTHYRETIN AMYLOIDOSIS Choi, KJ; Son, KY; Kang, SW; Kim, D; Choi, JO; Kim, HJ; Kim, JS; Jeon, ES; Kim, AY; Kang, MC; Kim, SJ
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  • J CLIN MED 2022 10.3390/jcm11010123 The Role of Factor Xa-Independent Pathway and Anticoagulant Therapies in Cancer-Related Stroke Kim, HJ; Chung, JW; Bang, OY; Cho, YH; Lim, YJ; Hwang, J; Seo, WK; Kim, GM; Kim, HJ; Ahn, MJ
    View PubMed
  • ANN LAB MED 2021 10.3343/alm.2021.41.6.593 A Case of Burkitt-Like Lymphoma With 11q Aberration With HIV Infection in East Asia and Literature Review Kim, JA; Kim, HY; Kim, SJ; Kim, HJ; Kim, SH
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  • ANN LAB MED 2021 10.3343/alm.2021.41.6.598 Aberrant Loss of Surface CD3 and TCR gamma delta Expression in Relapsed Hepatosplenic T-cell Lymphoma Lee, B; Lim, DJ; Heo, WY; Yoon, SE; Kim, HY; Kim, HJ; Kim, SH; Cho, D
    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
  • KOREAN J INTERN MED 2021 10.3904/kjim.2019.367 Real-world data on the survival outcome of patients with newly diagnosed Waldenstrom macroglobulinemia Cho1, JH; Shim, JH; Yoon, SE; Kim, HJ; Kim, SH; Ko, YH; Lee, ST; Kim, K; Kim, WS; Kim, SJ
    View PubMed
  • ANN LAB MED 2021 10.3343/alm.2021.41.3.342 LSAMP Rearrangement in Acute Myeloid Leukemia With a Jumping Translocation Involving 3q13.31 Yoon1, J; Cho, EH; Yun, JW; Kim, HY; Jang, JH; Kim, HJ; Kim, SH
    View PubMed
  • BMC NEPHROLOGY 2021 10.1186/s12882-021-02293-2 Eculizumab therapy on a patient with co-existent lupus nephritis and C3 mutation-related atypical haemolytic uremic syndrome: a case report Kim1, MJ; Lee, H; Kim, YH; Jin, SY; Kim, HJ; Oh, D; Jeon, JS
    View PubMed
  • LEUKEMIA 2021 10.1038/s41375-021-01151-2 Low CtBP2 expression is associated with a stem cell-like signature and adverse clinical outcome in childhood B-cell lymphoblastic leukemia Chun1, SJ; Kim, HY; Kim, HJ; Koo, HH; Yoo, KH; Kim, SH; Zhou, M; Lee, ST; Wiemels, JL
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  • ANN TRANSL MED 2021 10.21037/atm-20-3789 Atypical hemolytic uremic syndrome after childbirth: a case report Choi1, HS; Yun, JW; Kim, HJ; Oh, D; Kim, NI; Kim, CS; Kwon, S; Kim, SW; Bae, EH
    View PubMed
  • KOREAN J INTERN MED 2021 10.3904/kjim.2020.319 The 2020 revision of the guidelines for the management of myeloproliferative neoplasms Kim1, SY; Bae, SH; Bang, SM; Eom, KS; Hong, J; Jang, S; Jung, CW; Kim, HJ; Kim, HY; Kim, MK; Kim, SJ; Mun, YC; Nam, SH; Park, J; Won, JH; Choi, CW
    View PubMed
  • INT J LAB HEMATOL 2020 10.1111/ijlh.13396 Performance evaluation of platelet counting of Abbott Alinity hq and Sysmex XN-9000 automated hematology analyzer compared with international reference method Kim1, HY; Bang, SH; Cho, D; Kim, HJ; Kim, SH
    View PubMed
  • THROMB RES 2020 10.1016/j.thromres.2020.06.016 Distinct genetic profile with recurrent population-specific missense variants in Korean adult atypical hemolytic uremic syndrome Yun1, JW; Oh, J; Lee, KO; Lee, SJ; Kim, JO; Kim, NK; Kim, JS; Koh, Y; Yoon, SS; Yhim, HY; Jo, SK; Park, Y; Lee, JE; Park, J; Lee, JW; Kim, SH; Kim, HJ; Oh, D
    View PubMed
  • ANN LAB MED 2020 10.3343/alm.2020.40.5.409 Prevalence and Immunophenotypic Characteristics of Monoclonal B-Cell Lymphocytosis in Healthy Korean Individuals With Lymphocytosis Yoo1, IY; Bang, SH; Lim, DJ; Kim, SJ; Kim, K; Kim, HJ; Kim, SH; Cho, D
    View PubMed
  • ANN LAB MED 2020 10.3343/alm.2020.40.5.361 Diagnostic Approach for Double-Hit and Triple-Hit Lymphoma Based on Immunophenotypic and Cytogenetic Characteristics of Bone Marrow Specimens Kim1, H; Kim, HJ; Kim, SH
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  • TRANSPLANTATION 2020 10.1097/TP.0000000000003006 Inducing Transient Mixed Chimerism for Allograft Survival Without Maintenance Immunosuppression With Combined Kidney and Bone Marrow Transplantation Protocol Optimization Lee1, KW; Park, JB; Park, H; Kwon, Y; Lee, JS; Kim, KS; Chung, YJ; Rhu, JS; Choi, S; Kwon, GY; Kim, HJ; Kang, ES; Jung, CW; Shin, EC; Kawai, T; Kim, SJ; Joh, JW
    View PubMed
  • J PEDIAT HEMATOL ONC 2020 10.1097/MPH.0000000000001353 Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue Park1, CH; Park, S; Kim, YJ; Kim, SH; Kim, HJ
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  • ALLERGY ASTHMA IMMUNOL RES 2020 10.4168/aair.2020.12.2.292 Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience Kwon1, WK; Choi, S; Kim, HJ; Huh, HJ; Kang, JM; Kim, YJ; Yoo, KH; Ahn, K; Cho, HK; Peck, KR; Jang, JH; Ki, CS; Kang, ES
    View PubMed
  • CLIN CANCER RES 2020 10.1158/1078-0432.CCR-19-0694 Alterations in the Transcriptional Programs of Myeloma Cells and the Microenvironment during Extramedullary Progression Affect Proliferation and Immune Evasion Ryu1, D; Kim, SJ; Hong, Y; Jo, A; Kim, N; Kim, HJ; Lee, HO; Kim, K; Park, WY
    View PubMed
  • KOREAN JOURNAL OF INTERNAL MEDICINE 2020 10.3904/kjim.2019.388 Consensus regarding diagnosis and management of atypical hemolytic uremic syndrome Lee1, H; Kang, E; Kang, HG; Kim, YH; Kim, JS; Kim, HJ; Moon, KC; Ban, TH; Oh, SW; Jo, SK; Cho, H; Choi, BS; Hong, J; Cheong, HI; Oh, D
    View PubMed
  • MEDICINE 2020 10.1097/MD.0000000000018947 Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs2) in the F5 gene: A case report Park1, CH; Park, MS; Lee, KO; Kim, SH; Park, YS; Kim, HJ
    View PubMed
  • EUR J NUCL MED MOL I 2019 10.1007/s00259-019-04663-3 Staging and quantification of florbetaben PET images using machine learning: impact of predicted regional cortical tracer uptake and amyloid stage on clinical outcomes Kim1, JP; Kim, J; Kim, Y; Moon, SH; Park, YH; Yoo, S; Jang, H; Kim, HJ; Na, DL; Seo, SW; Seong, JK
    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
  • GENE CHROMOSOME CANC 2019 10.1002/gcc.22825 Molecular characteristics of terminal deoxynucleotidyl transferase negative precursor B-cell phenotype Burkitt leukemia with IGH-MYC rearrangement Yoon1, J; Yun, JW; Jung, CW; Ju, HY; Koo, HH; Kim, SH; Kim, HJ
    View PubMed
  • ANN LAB MED 2019 10.3343/alm.2019.39.6.545 Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses Kim1, HJ; Kim, SK; Yoo, KY; Lee, KO; Yun, JW; Kim, SH; Kim, HJ; Park, SK
    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
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  • J ALZHEIMERS DIS 2019 10.3233/JAD-190469 Dopa Responsive Parkinsonism in an Early Onset Alzheimer's Disease Patient with a Presenilin 1 Mutation (A434T) Jo1, H; Kim, M; Park, S; Park, JE; Cho, SH; Kim, SJ; Jang, H; Jung, YH; Kim, J; Na, DL; Seo, SW; Cho, JW; Kim, HJ
    View PubMed
  • J CLIN LAB ANAL 2019 10.1002/jcla.22951 Clonal dominance of a donor-derived del(20q) clone after allogeneic hematopoietic stem cell transplantation in an acute myeloid leukemia patient with del(20q) Yoon1, J; Yun, JW; Jung, CW; Kim, HJ; Kim, SH
    View PubMed
  • ANN LAB MED 2019 10.3343/alm.2019.39.5.430 Flow Cytometric Analysis of T Cells in Hemophagocytic Lymphohistiocytosis Park1, MS; Yoo, IY; Kim, HJ; Kim, SH; Kim, SJ; Cho, D
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  • BMC NEUROL 2019 10.1186/s12883-019-1434-z THK5351 and flortaucipir PET with pathological correlation in a Creutzfeldt-Jakob disease patient: a case report Kim1, HJ; Cho, H; Park, S; Jang, H; Ryu, YH; Choi, JY; Moon, SH; Oh, SJ; Oh, M; Na, DL; Lyoo, CH; Kim, EJ; Seeley, WW; Kim, JS; Choi, KC; Seo, SW
    View PubMed
  • Neuroimage Clin 2019 10.1016/j.nicl.2019.101941 Prediction of fast decline in amyloid positive mild cognitive impairment patients using multimodal biomarkers Jang1, H; Park, J; Woo, S; Kim, S; Kim, HJ; Na, DL; Lockhart, SN; Kim, Y; Kim, KW; Cho, SH; Kim, SJ; Seong, JK; Seo, SW
    View PubMed
  • J CLIN NEUROL 2019 10.3988/jcn.2019.15.3.292 Association of Nutritional Status with Cognitive Stage in the Elderly Korean Population: The Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's Disease Jang1, JW; Kim, Y; Choi, YH; Lee, JM; Yoon, B; Park, KW; Kim, SE; Kim, HJ; Yoon, SJ; Jeong, JH; Kim, EJ; Jung, NY; Hwang, J; Kang, JH; Hong, JY; Choi, SH
    View PubMed
  • Exp Neurobiol 2019 10.5607/en.2019.28.3.329 The First Generation of iPSC Line from a Korean Alzheimer's Disease Patient Carrying APP-V715M Mutation Exhibits a Distinct Mitochondrial Dysfunction Li1, L; Roh, JH; Kim, HJ; Park, HJ; Kim, M; Koh, W; Heo, H; Chang, JW; Nakanishi, M; Yoon, T; Na, DL; Song, J
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  • EUR J NUCL MED MOL I 2019 10.1007/s00259-019-04314-7 Clinical significance of amyloid positivity in patients with probable cerebral amyloid angiopathy markers Jang1, H; Jang, YK; Kim, HJ; Werring, DJ; Lee, JS; Choe, YS; Park, S; Lee, J; Kim, KW; Kim, Y; Cho, SH; Kim, SE; Kim, SJ; Charidimou, A; Na, DL; Seo, SW
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  • 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
  • Front Aging Neurosci 2019 10.3389/fnagi.2019.00147 Distinct Brain Regions in Physiological and Pathological Brain Aging Lee1, JS; Park, YH; Park, S; Yoon, U; Choe, Y; Cheon, BK; Hahn, A; Cho, SH; Kim, SJ; Kim, JP; Jung, YH; Park, KC; Kim, HJ; Jang, H; Na, DL; Seo, SW
    View PubMed
  • J ALZHEIMERS DIS 2019 10.3233/JAD-190007 Clinical Effects of Frontal Behavioral Impairment: Cortical Thickness and Cognitive Decline in Individuals with Subjective Cognitive Decline and Amnestic Mild Cognitive Impairment Kim1, SJ; Jung, NY; Kim, YJ; Park, SB; Kim, K; Kim, Y; Jang, H; Kim, SE; Cho, SH; Kim, JP; Jung, YH; Woo, SY; Kim, SW; Lockhart, SN; Kim, EJ; Kim, HJ; Lee, JM; Chin, J; Na, DL; Seo, SW
    View PubMed
  • HAEMATOL-HEMATOL J 2019 10.3324/haematol.2019.218487 Hereditary platelet function disorder from RASGRP2 gene mutations encoding CalDAG-GEFI identified by whole-exome sequencing in a Korean woman with severe bleeding Yun1, JW; Lee, KO; Jung, CW; Oh, SY; Kim, SH; Choi, CW; Kim, HJ
    View PubMed
  • INT J MOL SCI 2019 10.3390/ijms20071717 Elucidation of Novel Therapeutic Targets for Acute Myeloid Leukemias with RUNX1-RUNX1T1 Fusion Yun1, JW; Bae, YK; Cho, SY; Koo, H; Kim, HJ; Nam, DH; Kim, SH; Chun, S; Joo, KM; Park, WY
    View PubMed
  • Neuroimage Clin 2019 10.1016/j.nicl.2019.101811 Machine learning based hierarchical classification of frontotemporal dementia and Alzheimer's disease Kim1, JP; Kim, J; Park, YH; Park, SB; Lee, JS; Yoo, S; Kim, EJ; Kim, HJ; Na, DL; Brown, JA; Lockhar, SN; Seo, SW; Seong, JK
    View PubMed
  • BRAIN 2019 10.1093/brain/awz026 Functional connectivity associated with tau levels in ageing, Alzheimer's, and small vessel disease Franzmeier1, N; Rubinski, A; Neitzel, J; Kim, Y; Damm, A; Na, DL; Kim, HJ; Lyoo, CH; Cho, H; Finsterwalder, S; Duering, M; Seo, SW; Ewers, M
    View PubMed
  • ANN NEUROL 2019 10.1002/ana.25421 Development of the clinical assessment scale in autoimmune encephalitis Lim1, JA; Lee, ST; Moon, J; Jun, JS; Kim, TJ; Shin, YW; Abdullah, S; Byun, JI; Sunwoo, JS; Kim, KT; Yang, TW; Lee, WJ; Moon, HJ; Kim, DW; Lim, BC; Cho, YW; Yang, TH; Kim, HJ; Kim, YS; Koo, YS; Park, B; Jung, KH; Kim, M; Park, K; Jung, KY; Chu, K; Lee, SK
    View PubMed
  • J CLIN MED 2019 10.3390/jcm8030341 Clinical and Biomarker Characteristics According to Clinical Spectrum of Alzheimer's Disease (AD) in the Validation Cohort of Korean Brain Aging Study for the Early Diagnosis and Prediction of AD Hwang1, J; Jeong, JH; Yoon, SJ; Park, KW; Kim, EJ; Yoon, B; Jang, JW; Kim, HJ; Hong, JY; Lee, JM; Park, H; Kang, JH; Choi, YH; Park, G; Hong, J; Byun, MS; Yi, D; Kim, YK; Lee, DY; Choi, SH
    View PubMed
  • NEUROBIOL AGING 2019 10.1016/j.neurobiolaging.2018.11.017 F-18-flortaucipir uptake patterns in clinical subtypes of primary progressive aphasia Cho1, H; Kim, HJ; Choi, JY; Ryu, YH; Lee, MS; Na, DL; Seo, SW; Lyoo, CH
    View PubMed
  • SCI REP-UK 2019 10.1038/s41598-018-38357-x Non-alcoholic fatty liver disease and cerebral small vessel disease in Korean cognitively normal individuals Jang1, H; Kang, D; Chang, Y; Kim, Y; Lee, JS; Kim, KW; Jang, YK; Kim, HJ; Na, DL; Shin, HY; Kang, M; Guallar, E; Cho, J; Seo, SW
    View PubMed
  • NEUROBIOL AGING 2019 10.1016/j.neurobiolaging.2018.10.010 Cortical atrophy pattern-based subtyping predicts prognosis of amnestic MCI: an individual-level analysis Kim1, HJ; Park, JY; Seo, SW; Jung, YH; Kim, Y; Jang, H; Kim, ST; Seong, JK; Na, DL
    View PubMed
  • J KOREAN MED SCI 2019 10.3346/jkms.2019.34.e46 Impact of Day 14 Peripheral Blood Chimerism after Allogeneic Hematopoietic Stem Cell Bone Transplantation on the Treatment Outcome of Non-Malignant Disease Choi1, YB; Lee, JW; Sung, KW; Koo, HH; Kim, HJ; Yoo, KH
    View PubMed
  • SCI REP-UK 2019 10.1038/s41598-018-36580-0 Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease Kim1, KW; Kwon, H; Kim, YE; Yoon, CW; Kim, YJ; Kim, YB; Lee, JM; Yoon, WT; Kim, HJ; Lee, JS; Jang, YK; Kim, Y; Jang, H; Ki, CS; Youn, YC; Shin, BS; Bang, OY; Kim, GM; Chung, CS; Kim, SJ; Na, DL; Duering, M; Cho, H; Seo, SW
    View PubMed
  • Alzheimers Res Ther 2019 10.1186/s13195-018-0462-z Data-driven prognostic features of cognitive trajectories in patients with amnestic mild cognitive impairments Kim1, YJ; Cho, SK; Kim, HJ; Lee, JS; Lee, J; Jang, YK; Vogel, JW; Na, DL; Kim, C; Seo, SW
    View PubMed
  • ANN LAB MED 2019 10.3343/alm.2019.39.1.96 First Case of Plasma Cell Myeloma With Brown Tumor Features Unrelated to Hyperparathyroidism Kim1, H; Kim, K; Cho, SR; Kim, HJ; Kim, SH
    View PubMed
  • JAMA NEUROL 2019 10.1001/jamaneurol.2018.3887 On Mediation Models in Clinical Neurology Studies Reply Kim1, HJ; Kim, S; Seo, SW
    View PubMed
  • J NEUROL SCI 2019 10.1016/j.jns.2018.10.025 Retinal microvasculature changes in amyloid-negative subcortical vascular cognitive impairment compared to amyloid-positive Alzheimer's disease Jung1, NY; Han, JC; Ong, YT; Cheung, CYL; Chen, CP; Wong, TY; Kim, HJ; Kim, YJ; Lee, J; Lee, JS; Jang, YK; Kee, C; Lee, KH; Kim, EJ; Seo, SW; Na, DL
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  • Ann Hematol.?2014 Apr;93(4):603-8. doi: 10.1007/s00277-013-1915-x. Epub 2013 Oct 19. Clinical significance of SF3B1 mutations in Korean patients with myelodysplastic syndromes and myelodysplasia/myeloproliferative neoplasms with ring sideroblasts Seo JY11,?Lee KO,?Kim SH,?Kim K,?Jung CW,?Jang JH,?Kim HJ.
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  • Haematologica. 2014 Apr;99(4):e49-51. doi: 10.3324/haematol.2013.102798. Epub 2014 Feb 21. Molecular characterization and clinical course of MLL-ACTN4 rearrangement in therapy-related hematologic malignancies Yang JJ11, Park TS, Lee ST, Seo JY, Oh SH, Cho EH, Burmeister T, Ludwig WD, Meyer C, Marschalek R, Kim HJ, Kim SH.
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  • Ann Lab Med. 2014 Mar;34(2):166-9. doi: 10.3343/alm.2014.34.2.166. Epub 2014 Feb 13. Acute Lymphoblastic Leukemia with Mature B-Cell Phenotype and t(9;11;11)(p22;q23;p11.2): A Case Study and Literature Review Kim B11, Lee ST1, Kim HJ1, Lee SH2, Yoo KH2, Koo HH2, Kim SH1.
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  • Gene. 2014 Mar 10;537(2):343-7. doi: 10.1016/j.gene.2013.12.056. Epub 2014 Jan 4. Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter Park CH11, Kim HJ1, Lee ST1, Seo JM2, Kim SH3.
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  • 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.
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  • Haematologica. 2014 Jan;99(1):e11-3. doi: 10.3324/haematol.2013.095638. Molecular characterization and clinical impact of t(11;15)(q23;q14-15) MLL-CASC5 rearrangement Yang JJ11, Park TS, Lee ST, Seo JY, Oh SH, Cho EH, Strehl S, Muhlegger N, Dworzak MN, Zuna J, Pospisilova D, Meyer C, Marschalek R, Kim HJ, Kim SH.
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  • 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.
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  • Acta Haematol. 2014;131(1):18-27. doi: 10.1159/000351060. Epub 2013 Sep 10. Clinical Features and Treatment Outcomes of Intravascular Large B-Cell Lymphoma: A Single-Center Experience in Korea Hong JY11, Kim HJ, Ko YH, Choi JY, Jung CW, Kim SJ, Kim WS.
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  • 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.
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  • Blood Coagul Fibrinolysis. 2013 Oct;24(7):746-8. doi: 10.1097/MBC.0b013e3283631e04. Low intraindividual variability of activated partial thromboplastin time revealed in a population of 10 487 control individuals Ma Y11, Huh HJ, Kim SH, Kim HJ.
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  • Ann Clin Lab Sci. 2013 Fall;43(4):450-6. Cryptic Microdeletion of the CREBBP Gene from t(1;16) (p36.2;p13.3) as a Novel Genetic Defect Causing Rubinstein-Taybi Syndrome Kim SR11, Kim HJ, Kim YJ, Kwon JY, Kim JW, Kim SH.
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  • Blood Coagul Fibrinolysis. 2013 Jul;24(5):544-6. doi: 10.1097/MBC.0b013e32835ee0f8. Mild haemophilia B from a novel missense mutation Ser350Ala of the F9 gene Park CH11, Seo JY, Kim SH, Koo HH, Kim HJ.
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  • Clin Exp Otorhinolaryngol. 2013 Jun;6(2):99-102. doi: 10.3342/ceo.2013.6.2.99. Epub 2011 Feb 7. Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome Chu HS11, Chung HS, Ko MH, Kim HJ, Ki CS, Chung WH, Cho YS, Hong SH.
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  • Ann Hematol. 2013 May;92(5):635-44. doi: 10.1007/s00277-012-1664-2. Epub 2013 Jan 25. Gene mutation profiles and prognostic implications in Korean patients with T-lymphoblastic leukemia Huh HJ11, Lee SH, Yoo KH, Sung KW, Koo HH, Jang JH, Kim K, Kim SJ, Kim WS, Jung CW, Lee KO, Kim SH, Kim HJ.
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  • Ann Hematol. 2013 Apr;92(4):459-69. doi: 10.1007/s00277-012-1635-7. Epub 2012 Dec 23. Genome-wide single-nucleotide polymorphism array-based karyotyping in myelodysplastic syndrome and chronic myelomonocytic leukemia and its impact on treatment outcomes following decitabine treatment Yi JH11, Huh J, Kim HJ, Kim SH, Kim SH, Kim KH, Do YR, Mun YC, Kim H, Kim MK, Kim HJ, Kim T, Kim DD.
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  • Ann Hematol. 2013 Mar;92(3):357-64. doi: 10.1007/s00277-012-1628-6. Epub 2012 Nov 24. Founder effects in two predominant intronic mutations of UNC13D, c.118-308C > T and c.754-1G > C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea Seo JY11, Song JS, Lee KO, Won HH, Kim JW, Kim SH, Lee SH, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Han DK, Kook H, Hwang TJ, Lyu CJ, Lee MJ, Kim JY, Park SS, Lim YT, Kim BE, Koh KN, Im HJ, Seo JJ, Kim HJ; Korea Histiocytosis Working Party.
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  • Ann Lab Med. 2013 Mar;33(2):97-104. doi: 10.3343/alm.2013.33.2.97. Epub 2013 Feb 21. Therapy-Related Myeloid Neoplasms in 39 Korean Patients: A Single Institution Experience Huh HJ11, Lee SH, Yoo KH, Sung KW, Koo HH, Kim K, Jang JH, Jung C, Kim SH, Kim HJ.
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  • Clin Exp Otorhinolaryngol. 2013 Mar;6(1):41-4. doi: 10.3342/ceo.2013.6.1.41. Epub 2011 Oct 1. A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II Boo SH11, Song MJ, Kim HJ, Cho YS, Chu H, Ko MH, Chung WH, Kim JW, Hong SH.
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  • Int J Hematol. 2013 Mar;97(3):403-8. doi: 10.1007/s12185-013-1286-z. Epub 2013 Feb 12. Chronic lymphocytic leukemia in Korean patients: frequent atypical immunophenotype and relatively aggressive clinical behavior Jang MA11, Yoo EH, Kim K, Kim WS, Jung CW, Kim SH, Kim HJ.
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  • Ann Hematol. 2013 Jan;92(2):163-71. doi: 10.1007/s00277-012-1580-5. Epub 2012 Sep 28. KIT D816 mutation associates with adverse outcomes in core binding factor acute myeloid leukemia, especially in the subgroup with RUNX1/RUNX1T1 rearrangement Kim HJ11, Ahn HK, Jung CW, Moon JH, Park CH, Lee KO, Kim SH, Kim YK, Kim HJ, Sohn SK, Kim SH, Lee WS, Kim KH, Mun YC, Kim H, Park J, Min WS, Kim HJ, Kim DH; L/MDS working party, Korean Society of Hematology.
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  • Haemophilia. 2012 Nov;18(6):1008-13. doi: 10.1111/j.1365-2516.2012.02895.x. Epub 2012 Jun 29. Mutation spectrum and inhibitor risk in 100 Korean patients with severe haemophilia A Kim HJ11, Chung HS, Kim SK, Yoo KY, Jung SY, Park IA, Lee KO, Kim SH, Kim HJ.
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  • Am J Hematol. 2012 Oct;87(10):961-8. doi: 10.1002/ajh.23281. Epub 2012 Aug 7. A genome-wide single-nucleotide polymorphism-array can improve the prognostic stratification of the core binding factor acute myeloid leukemia Huh J11, Kim HJ, Jung CW, Kim HJ, Kim SH, Kim YK, Kim HJ, Shin MG, Moon JH, Sohn SK, Kim SH, Lee WS, Won JH, Mun YC, Kim H, Park J, Min WS, Kim DH; AML/MDS working party, Korean Society of Hematology.
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  • Thromb Res. 2012 Oct;130(4):e199-202. doi: 10.1016/j.thromres.2012.07.019. Epub 2012 Aug 15. Seasonal variation in the occurrence of venous thromboembolism: A report from the Korean Venous Thromboembolism Working Party Jang MJ11, Kim HJ, Bang SM, Lee JO, Yhim HY, Kim YK, Kim YK, Choi WI, Lee EY, Kim IH, Park S, Sohn HJ, Kim DK, Kim M, Oh D.
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  • Pediatr Blood Cancer. 2012 Aug;59(2):335-8. doi: 10.1002/pbc.24041. Epub 2011 Dec 20. Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia Park KJ11, Chung HS, Lee KO, Park IA, Kim SH, Kim HJ.
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  • Ann Lab Med. 2012 Jul;32(4):289-93. doi: 10.3343/alm.2012.32.4.289. Epub 2012 Jun 20. MYC Rearrangement Involving a Novel Non-immunoglobulin Chromosomal Locus in Precursor B-cell Acute Lymphoblastic Leukemia Seo JY11, Lee SH, Kim HJ, Yoo KH, Koo HH, Cho YG, Choi SI, Kim SH.
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  • Blood Coagul Fibrinolysis. 2012 Jul;23(5):355-8. doi: 10.1097/MBC.0b013e32834fa81e. Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes Woo HI11, Park IA, Lee KO, Kim SH, Kim HJ.
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  • Br J Dermatol. 2012 Jun;166(6):1370-3. doi: 10.1111/j.1365-2133.2012.10816.x. Epub 2012 Mar 14. N822K c-kit mutation in CD30-positive cutaneous pleomorphic mastocytosis after germ cell tumour of the ovary Baek JO1, Kang HK, Na SY, Lee JR, Roh JY, Lee JH, Kim HJ, Park S.
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  • Yonsei Med J. 2012 May;53(3):662-6. doi: 10.3349/ymj.2012.53.3.662. A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly Jang MJ11, Park HJ, Chong SY, Huh JY, Kim IH, Jang JH, Kim HJ, Oh D.
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  • Yonsei Med J. 2012 May;53(3):571-7. doi: 10.3349/ymj.2012.53.3.571. Hereditary Thrombophilia in Korean Patients with Idiopathic Pulmonary Embolism Lee M11, No HJ, Jang SY, Kim N, Choi SH, Kim H, Kim SH, Kim HJ, Kim DK.
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  • J Pediatr Hematol Oncol. 2012 May;34(4):e152-4. doi: 10.1097/MPH.0b013e3182422a20. Hemophagocytic Lymphohistiocytosis can Mimic the Superior Vena Cava Syndrome Park M11, Choi JW, Park HJ, Kim HJ, Hi Son M, Yoon JH, Kim SJ, Park WS, Park BK.
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  • Am J Rhinol Allergy. 2012 May-Jun;26(3):177-82. doi: 10.2500/ajra.2012.26.3753. Down-regulation of gelsolin may play a role in the progression of inverted papilloma through an antiapoptotic mechanism Cho JE11, Park Wi, Kim DC, Kim HJ, Kim SW, Kang JM, Cho JH.
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  • Pediatr Blood Cancer. 2012 Apr;58(4):640-2. doi: 10.1002/pbc.23190. Epub 2011 May 25. A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia Choi HS11, Yang HR, Song SH, Seo JY, Lee KO, Kim HJ.
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  • Thromb Haemost. 2012 Apr;107(4):799-801. doi: 10.1160/TH11-11-0762. Epub 2012 Mar 8. ABO blood types are associated with risk of idiopathic venous thromboembolism in the Korean population A report from the Korean Venous Thromboembolism Working Party (KVTEWP) Jang MJ1, Yhim HY, Lee JO, Kim YK, Kim YK, Kim IH, Park S, Choi WI, Oh D, Kim DK, Kim HJ.
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  • Ann Hematol. 2012 Apr;91(4):511-7. doi: 10.1007/s00277-011-1326-9. Epub 2011 Sep 8. Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia Park HD11, Lee SH, Sung KW, Koo HH, Jung NG, Cho B, Kim HK, Park IA, Lee KO, Ki CS, Kim SH, Yoo KH, Kim HJ.
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  • Ann Lab Med. 2012 Mar;32(2):153-7. doi: 10.3343/alm.2012.32.2.153. Epub 2012 Feb 23. Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype Kim S11, Kim DH, Jang JH, Jung CW, Jang MA, Ki CS, Kim JW, Kim SH, Kim HJ.
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  • Diagn Mol Pathol. 2012 Mar;21(1):40-4. doi: 10.1097/PDM.0b013e3182319ebe. Diagnostic Utility of a Multiplex RT-PCR Assay in Detecting Fusion Transcripts From Recurrent Genetic Abnormalities of Acute Leukemia by WHO 2008 Classification Song MJ11, Kim HJ, Park CH, Kim SK, Ki CS, Kim JW, Kim SH.
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  • Pediatr Blood Cancer. 2012 Feb;58(2):297-9. doi: 10.1002/pbc.23377. Epub 2011 Oct 28. IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family Yoon SH11, Cho T, Kim HJ, Kim SY, Ko JH, Baek HS, Lee HJ, Lee CH.
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  • Haematologica. 2012 Feb;97(2):304-9. doi: 10.3324/haematol.2011.052324. Epub 2011 Oct 11. Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array Kim HJ11, Kim DK, Yoo KY, You CW, Yoo JH, Lee KO, Park IA, Choung HS, Kim HJ, Song MJ, Kim SH.
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  • Am J Hematol. 2012 Jan;87(1):37-41. doi: 10.1002/ajh.22193. Epub 2011 Nov 25. Monosomal karyotype in acute myeloid leukemia predicts adverse treatment outcome and associates with high functional multidrug resistance activity Ahn HK11, Jang JH, Kim K, Kim HJ, Kim SH, Jung CW, Kim DH.
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  • Blood Coagul Fibrinolysis. 2012 Jan;23(1):35-8. doi: 10.1097/MBC.0b013e32834a6136. Significantly different coagulation factor activities underlying the variability of 'normal' activated partial thromboplastin time Park KJ11, Kwon EH, Ma Y, Park IA, Kim SW, Kim SH, Kim HJ.
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  • Ann Clin Lab Sci. 2012 Winter;42(1):98-102. A Gly1609Arg Missense Mutation in the vWF Gene in a Korean Patient with von Willebrand Disease Type 2A Choi SJ11, Lee EY, Kim HJ, Lee KA, Song J, Choi JR, Yoo JH.
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  • J Korean Med Sci. 2011 Dec;26(12):1646-9. doi: 10.3346/jkms.2011.26.12.1646. Epub 2011 Nov 29. Novel ELANE Gene Mutation in a Korean Girl with Severe Congenital Neutropenia Shim YJ11, Kim HJ, Suh JS, Lee KS.
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  • Blood Coagul Fibrinolysis. 2011 Dec;22(8):742-5. doi: 10.1097/MBC.0b013e32834a7e17. A novel splice-site mutation c.42-2A > T (IVS1-2A > T) of SERPINC1 in a Korean family with inherited antithrombin deficiency Jang MJ11, Lee JG, Chong SY, Huh JY, Jang MA, Kim HJ, Oh D.
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  • 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.
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  • Ann Clin Lab Sci. 2011 Fall;41(4):397-400. A Rare Splicing Mutation in the PROS1 Gene of a Korean Patient with Type I Hereditary Protein S Deficiency Choi J11, Kim HJ, Chang MH, Choi JR, Yoo JH.
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  • Int J Lab Hematol. 2011 Oct;33(5):471-6. doi: 10.1111/j.1751-553X.2011.01308.x. Epub 2011 Mar 24. Prevalence of overt myeloproliferative neoplasms and JAK2 V617F mutation in Korean patients with splanchnic vein thrombosis Yoo EH11, Jang JH, Park KJ, Gwak GY, Kim HJ, Kim SH, Kim DK.
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  • Korean J Lab Med. 2011 Oct;31(4):290-3. doi: 10.3343/kjlm.2011.31.4.290. Epub 2011 Oct 3. A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency Lee JH11, Cho HS, Hyun MS, Kim HY, Kim HJ.
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  • J Korean Med Sci. 2011 Sep;26(9):1247-9. doi: 10.3346/jkms.2011.26.9.1247. Epub 2011 Sep 1. The First Case of Postpartum Acquired Hemophilia A in Korea Lee JH11, Kim DH, Yoo K, Choi Y, Kim SH, Kim HJ.
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  • No items found. Development of simple and rapid HLA-C genotyping method using an oligonucleotide microarray
  • Ann Hematol. 2011 Aug;90(8):975-8. doi: 10.1007/s00277-010-1108-9. Epub 2010 Oct 30. Neutropenia in parvovirus B19-associated pure red cell aplasia Seo JY1, Kim HJ, Kim SH.
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  • Korean J Lab Med. 2011 Jul;31(3):154-6. doi: 10.3343/kjlm.2011.31.3.154. Epub 2011 Jun 28. Acquired Factor X Deficiency in Light Chain Amyloidosis: A Report of 2 Korean Cases Ma Y11, Kwon EH, Lee JE, Kim K, Kim HJ, Kim SH.
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  • Korean J Lab Med. 2011 Jul;31(3):143-7. doi: 10.3343/kjlm.2011.31.3.143. Epub 2011 Jun 28. Evaluation of the Diagnostic Performance of Fibrin Monomer in Disseminated Intravascular Coagulation Park KJ11, Kwon EH, Kim HJ, Kim SH.
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  • Ann Clin Lab Sci. 2011 Spring;41(2):138-43. Underestimation of recipient DNA in bone marrow by post-transplant chimerism analyses using DNA extracted from EDTA-collected aspirate samples in pediatric acute myeloid leukemia Park CH11, Song MJ, Kim HJ, Ki CS, Lee SH, Yoo KH, Sung KW, Koo HH, Kim SH.
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  • Ann Clin Lab Sci. 2011 Spring;41(2):193-6. CKIT mutation in therapy-related acute myeloid leukemia with MLLT3/MLL chimeric transcript from t(9;11)(p22;q23) Jung CL11, Kim HJ, Kim DH, Huh H, Song MJ, Kim SH.
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  • Blood Coagul Fibrinolysis. 2011 Apr;22(3):211-4. doi: 10.1097/MBC.0b013e328343f873. Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study Song MJ11, Kim HJ, Yoo KY, Park IA, Lee KO, Ki CS, Kim SH.
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  • Blood Coagul Fibrinolysis. 2011 Mar;22(2):102-5. doi: 10.1097/MBC.0b013e328343641a. Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea Kwon MJ11, Yoo KY, Lee KO, Kim SH, Kim HJ.
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  • Thromb Res. 2011 Feb;127(2):176-8. doi: 10.1016/j.thromres.2010.07.019. Epub 2010 Aug 21. A novel insertion mutation 718dupG in the PROC gene in a Korean thrombophilic family Park HJ1, Chong SY, Oh D, Huh JY, Kim HJ, Yun-Choi HS, Park S.
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  • Pediatr Blood Cancer. 2011 Feb;56(2):304-6. doi: 10.1002/pbc.22842. A Novel Nonsense Mutation in the MPL Gene in Congenital Amegakaryocytic Thrombocytopenia Chung HS11, Koh KN, Kim HJ, Kim HJ, Lee KO, Park CJ, Chi HS, Kim SH, Seo JJ, Im HJ.
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  • No items found. Diagnostic and therapeutic guideline for myeloproliferative neoplasm
  • Ann Clin Lab Sci. 2011 Fall;41(1):89-92. Case Report: A Heparin Binding Site Arg79Cys Missense Mutation in the SERPINC1 Gene in a Korean Patient with Hereditary Antithrombin Deficiency Yoo JH11, Maeng HY, Kim HJ, Lee KA, Choi JR, Song J.
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  • Ann Clin Lab Sci. 2011 Fall;41(1):66-70. Acute Myeloid Leukemia with Complex Hypodiploidy and Loss of Heterozygosity of 17p in a Boy with Fanconi Anemia Woo HI11, Kim HJ, Lee SH, Yoo KH, Koo HH, Kim SH.
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  • J Korean Med Sci. 2010 Dec;25(12):1818-20. doi: 10.3346/jkms.2010.25.12.1818. Epub 2010 Nov 24. Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica Park CH11, Lee MJ, Kim HJ, Lee G, Park JW, Cinn YW.
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  • Korean J Lab Med. 2010 Dec;30(6):559-66. doi: 10.3343/kjlm.2010.30.6.559. Current Status and Proposal of a Guideline for Manual Slide Review of Automated Complete Blood Cell Count and White Blood Cell Dfferential Woo HY11, Shin SY, Park H, Kim YJ, Kim HJ, Lee YK, Chae SL, Chang YH, Choi JR, Han K, Cho SR, Kwon KC.
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  • J Dermatol Sci. 2010 Nov;60(2):120-2. doi: 10.1016/j.jdermsci.2010.08.007. Epub 2010 Aug 27. A novel mutation of the WAS gene in a patient with Wiskott-Aldrich syndrome presenting with recalcitrant viral warts Kim JK1, Yoon MS, Huh JY, Kim HJ, Kim DH.
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  • Blood Coagul Fibrinolysis. 2010 Oct;21(7):683-6. doi: 10.1097/MBC.0b013e32833e429c. Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency Kim HJ11, Kim HJ, Kwon EH, Lee KO, Park IA, Kim SH.
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  • Korean J Lab Med. 2010 Oct;30(5):451-9. doi: 10.3343/kjlm.2010.30.5.451. Immature Platelet Fraction: Establishment of a Reference Interval and Diagnostic Measure for Thrombocytopenia Jung H11, Jeon HK, Kim HJ, Kim SH.
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  • Korean J Lab Med. 2010 Oct;30(5):474-6. doi: 10.3343/kjlm.2010.30.5.474. JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia Kim HJ11, Jang JH, Yoo EH, Kim HJ, Ki CS, Kim JW, Kim SH.
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  • Pediatr Transplant. 2010 Sep 1;14(6):735-40. doi: 10.1111/j.1399-3046.2009.01284.x. Epub 2010 Jan 24. The outcome of hematopoietic stem cell transplantation in Korean children with hemophagocytic lymphohistiocytosis Yoon HS11, Im HJ, Moon HN, Lee JH, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Cho B, Kim HK, Lyu CJ, Lee MJ, Kook H, Hwang TJ, Seo JJ.
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  • Blood Coagul Fibrinolysis. 2010 Jun;21(4):368-71. doi: 10.1097/MBC.0b013e3283367946. A diagnostic challenge: mild hemophilia B with normal activated partial thromboplastin time Park CH11, Seo JY, Kim HJ, Jang JH, Kim SH.
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  • Blood Coagul Fibrinolysis. 2010 Jun;21(4):308-12. doi: 10.1097/MBC.0b013e32833449df. Molecular genetic analysis of Korean patients with coagulation factor XII deficiency Kwon MJ11, Kim HJ, Lee KO, Jung CW, Kim SH.
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  • Clin Exp Otorhinolaryngol. 2010 Jun;3(2):65-9. doi: 10.3342/ceo.2010.3.2.65. Epub 2010 Jun 30. Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea Kim HJ11, Park CH, Kim HJ, Lee KO, Won HH, Ko MH, Chu H, Cho YS, Chung WH, Kim JW, Hong SH.
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  • Int J Hematol. 2010 Jun;91(5):784-91. doi: 10.1007/s12185-010-0593-x. Epub 2010 Jun 10. Mutation analysis of factor VIII in Korean patients with severe hemophilia A You CW11, Son HS, Kim HJ, Woo EJ, Kim SA, Baik HW.
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  • Pediatr Blood Cancer. 2010 Apr;54(4):629-31. doi: 10.1002/pbc.22316. A Novel Initiation Codon Mutation in the Ribosomal Protein S17 Gene (RPS17) in a Patient With Diamond-Blackfan Anemia Song MJ11, Yoo EH, Lee KO, Kim GN, Kim HJ, Kim SY, Kim SH.
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  • Haematologica. 2010 Apr;95(4):622-6. doi: 10.3324/haematol.2009.016949. Epub 2009 Dec 16. UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis Yoon HS11, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Kim JY, Lim YT, Bae KW, Lee KO, Shin JS, Lee ST, Chung HS, Kim SH, Park CJ, Chi HS, Im HJ, Seo JJ.
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  • Blood Coagul Fibrinolysis. 2010 Apr;21(3):251-5. doi: 10.1097/MBC.0b013e3283367931. Establishment of reference intervals for von Willebrand factor antigen and eight coagulation factors in a Korean population following the Clinical and Laboratory Standards Institute guidelines Jang JH11, Seo JY, Bang SH, Park IA, Kim HJ, Kim SH.
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  • J Korean Med Sci. 2009 Dec;24(6):1203-6. doi: 10.3346/jkms.2009.24.6.1203. Epub 2009 Nov 9. Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution Park E11, Park G, Park R, Kim HJ, Lee SJ, Cha YJ.
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  • Ann Hematol. 2009 Jun;88(6):593-5. doi: 10.1007/s00277-008-0629-y. Epub 2008 Oct 23. A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia Lee ST1, Yoon HS, Kim HJ, Lee JH, Park JH, Kim SH, Seo JJ, Im HJ.
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  • J Allergy Clin Immunol. 2009 Apr;123(4):956-8. doi: 10.1016/j.jaci.2009.01.068. A novel mutation in the linker domain of the signal transducer and activator of transcription 3 gene, p.Lys531Glu, in hyper-IgE syndrome Kim HJ1, Kim JH, Shin YK, Lee SI, Ahn KM.
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  • Thromb Res. 2009 Mar;123(5):793-5. doi: 10.1016/j.thromres.2008.12.003. Epub 2009 Jan 24. Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA) Yoo JH11, Kim HJ, Maeng HY, Kim YA, Sun YK, Song JW, Choi JR, Kim SH, Lee KA.
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  • Acta Otolaryngol. 2009 Jun;129(6):688-93. doi: 10.1080/00016480802342432. A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome Kwon MJ11, Boo SH, Kim HJ, Cho YS, Chung WH, Hong SH.
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  • Thromb Res. 2008;123(2):412-7. doi: 10.1016/j.thromres.2008.04.014. Epub 2008 Jun 24. Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients Kim HJ11, Kim DK, Koh KC, Kim JY, Kim SH.
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  • Blood Coagul Fibrinolysis. 2008 Oct;19(7):679-83. doi: 10.1097/MBC.0b013e32830ef8f9. Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene Kwon MJ11, Kim HJ, Bang SH, Kim SH.
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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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  • Haemophilia. 2008 Sep;14(5):1069-75. doi: 10.1111/j.1365-2516.2008.01796.x. Epub 2008 Jul 8. Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B Kwon MJ11, Yoo KY, Kim HJ, Kim SH.
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  • J Thromb Haemost. 2008 Aug;6(8):1430-2. doi: 10.1111/j.1538-7836.2008.03026.x. Epub 2008 May 17. Inherited protein S deficiency as a reszult of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification Choung HS1, Kim HJ, Gwak GY, Kim SH, Kim DK.
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  • Korean J Lab Med. 2008 Aug;28(4):258-61. doi: 10.3343/kjlm.2008.28.4.258. A case of type 2N von Willebrand disease with homozygous R816W mutation of the VWF gene in a Nepalese woman Lee SY11, Nam EM, Lee SN, Kim HJ, Hong KS.
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  • Breast Cancer Res Treat. 2008 Jul;110(2):367-76. Epub 2007 Oct 2. Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans Huo D11, Kim HJ, Adebamowo CA, Ogundiran TO, Akang EE, Campbell O, Adenipekun A, Niu Q, Sveen L, Fackenthal JD, Fackenthal DL, Das S, Cox N, Di Rienzo A, Olopade OI.
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  • J Thromb Haemost. 2008 Apr;6(4):701-3. doi: 10.1111/j.1538-7836.2008.02905.x. Epub 2008 Jan 15. Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA) Lee ST1, Kim HJ, Kim DK, Schuit RJ, Kim SH.
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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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  • Mod Pathol. 2006 Aug;19(8):1139-47. Epub 2006 Jun 16. Enhanced expression of hedgehog signaling molecules in squamous cell carcinoma of uterine cervix and its precursor lesions Xuan YH11, Jung HS, Choi YL, Shin YK, Kim HJ, Kim KH, Kim WJ, Lee YJ, Kim SH.
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  • Int J Hematol. 2006 Jun;83(5):426-8. A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome Kim HJ11, Yoo EH, Ki CS, Yoo GH, Koo HH, Kim JW, Kim SH.
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  • Mod Pathol. 2006 May;19(5):675-83. Increased expression of sonic hedgehog and altered methylation of its promoter region in gastric cancer and its related lesions Wang LH11, Choi YL, Hua XY, Shin YK, Song YJ, Youn SJ, Yun HY, Park SM, Kim WJ, Kim HJ, Choi JS, Kim SH.
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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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  • Clin Genet. 2004 Oct;66(4):368-72. Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized Kim HJ1, Cho HJ, Jin DK, Kwon EK, Ki CS, Kim JW, Kim SH.
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  • Clin Lab Haematol. 2004 Aug;26(4):287-90. Pseudobasophilia as an erroneous white blood cell differential count with a discrepancy between automated cell counters: report of two cases Hur M11, Lee YK, Lee KM, Kim HJ, Cho HI.
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  • Am J Hematol. 2004 Aug;76(4):360-3. ABL oncogene amplification with p16(INK4a) gene deletion in precursor T-Cell acute lymphoblastic leukemia/lymphoma: Report of the first case Kim HJ11, Woo HY, Koo HH, Tak EY, Kim SH.
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  • Genes Chromosomes Cancer. 2003 Sep;38(1):8-12. MLL/SEPTIN6 chimeric transcript from inv ins(X;11 )(q24;q23q13) in acute monocytic leukemia: Report of a case and review of the literature Kim HJ11, Ki CS, Park Q, Koo HH, Yoo KH, Kim EJ, Kim SH.
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