| 2014 | Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations. | LARYNGOSCOPE |
| 2009 | JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature | CANCER GENETICS AND CYTOGENETICS |
| 2017 | Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2021 | Lineage switch of B-lymphoblastic leukemia into acute myeloid leukemia with residual lymphoblasts in a patient with previous breast cancer | INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY |
| 2008 | Linear relationship between ADAMTS13 activity and platelet dynamics even before severe thrombocytopenia | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2008 | MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities. | CANCER GENETICS AND CYTOGENETICS |
| 2010 | Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia. | CANCER GENETICS AND CYTOGENETICS |
| 2010 | Multiplex Ligation-dependent Probe Amplification (MLPA) 방법에 의한 디스트로핀 유전자 돌연변이 분자학적 진단의 유용성
| Journal of the Korean Neurological Association |
| 2017 | Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects
| YONSEI MEDICAL JOURNAL |
| 2018 | Multiplex Ligation-dependent Probe Amplification 방법을 이용한 정신지체와 수면장애를 가진 Smith-Magenis Syndrome 환자의 진단
| Laboratory Medicine Online |
| 2015 | Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2016 | Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2012 | Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax | GENE |
| 2004 | Novel interleukin 1β polymorphism increased the risk of gastric cancer in a Korean population | JOURNAL OF GASTROENTEROLOGY |
| 2023 | Outstanding Characteristics of Birt–Hogg–Dube Syndrome in Korea
| DIAGNOSTICS |
| 2008 | Paracentric inversion-associated t(8;21) variant in de novo acute myelogenous leukemia: characteristic patterns of conventional cytogenetics, FISH, and multicolor banding analysis. | CANCER GENETICS AND CYTOGENETICS |
| 2011 | PARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD
| ANNALS OF DERMATOLOGY |
| 2014 | Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies
| Case Reports in Genetics |
| 2014 | Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients
| JOURNAL OF BREAST CANCER |
| 2020 | Performance comparison of platelet function analyzers in cardiology patients: VerifyNow and Anysis-200 aspirin assays | CLINICAL HEMORHEOLOGY AND MICROCIRCULATION |
| 2018 | Performance evaluation of cobas HBV real-time PCR assay on Roche cobas 4800 System in comparison with COBAS AmpliPrep/COBAS TaqMan HBV Test | CLINICAL CHEMISTRY AND LABORATORY MEDICINE |
| 2021 | Performance Evaluation of the KRYPTOR Compact PLUS Analyzer-Based B.R.A.H.M.S. CgA Ⅱ KRYPTOR Assay for Chromogranin A Measurement
| DIAGNOSTICS |
| 2024 | Poor Mobilization-Associated Factors in Autologous Hematopoietic Stem Cell Harvest
| CANCERS |
| 2012 | Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. | CLINICAL GENETICS |
| 2008 | Preceding orbital granulocytic sarcoma in an adult patient with acute myelogenous leukemia with t(8;21): a case study and review of the literature. | CANCER GENETICS AND CYTOGENETICS |
| 2014 | Prevalence of Sexually Transmitted Infections in Korean Healthy Women; Implications of Multiplex PCR pathogen detection on antibiotic therapy | JOURNAL OF INFECTION AND CHEMOTHERAPY |
| 2022 | Primary endocrine resistance of ER+ breast cancer with ESR1 mutations interrogated by droplet digital PCR
| NPJ BREAST CANCER |
| 2017 | Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients
| ONCOTARGET |
| 2016 | PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
| ANNALS OF LABORATORY MEDICINE |
| 2011 | Rapid identification of thrombocytopenia-associated multiple organ failure using red blood cell parameters and a volume/hemoglobin concentration cytogram
| YONSEI MEDICAL JOURNAL |
| 2016 | Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2008 | Rare translocations involving chromosome band 8p11 in myeloid neoplasms. | CANCER GENETICS AND CYTOGENETICS |
| 2012 | Refractory anemia with ring sideroblasts associated with marked thrombocytosis harboring cytogenetic abnormality dup(2)(p15p22) treated with decitabine | LEUKEMIA & LYMPHOMA |
| 2015 | Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder
| ANNALS OF LABORATORY MEDICINE |
| 2019 | Selecting short length nucleic acids localized in exosomes improves plasma EGFR mutation detection in NSCLC patients
| Cancer Cell International |
| 2013 | Spectrum of EGFR Gene Copy Number Changes and KRAS Gene Mutation Status in Korean Triple Negative Breast Cancer Patients
| PLOS ONE |
| 2007 | t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma | CANCER GENETICS AND CYTOGENETICS |
| 2001 | Tandem translocation of chromosomes 22 and 15 with two preserved satellite stalk regions and deletion 22q13.3–qter | AMERICAN JOURNAL OF MEDICAL GENETICS |
| 2009 | The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 2009 | Therapy-related acute lymphoblastic leukemia with t(9;22)(q34;q11.2):a case study and review of the literature | CANCER GENETICS AND CYTOGENETICS |
| 2011 | Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy.
| YONSEI MEDICAL JOURNAL |
| 2009 | Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer | CANCER GENETICS AND CYTOGENETICS |
| 2009 | Three-way Philadelphia variant t(9;22;14)(q34;q11.2;p11) in chronic myeloid leukemia. | CANCER GENETICS AND CYTOGENETICS |
| 2010 | Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23). | CANCER GENETICS AND CYTOGENETICS |
| 2005 | TP53BP2 locus is associated with gastric cancer susceptibility | INTERNATIONAL JOURNAL OF CANCER |
| 2008 | Trisomy 8 in an elderly patient with acute lymphoblastic leukemia as a sole abnormality | CANCER GENETICS AND CYTOGENETICS |
| 2009 | Two case reports of 1q triplication in myeloproliferative neoplasms. | CANCER GENETICS AND CYTOGENETICS |
| 2022 | Validation and clinical application of a novel platelet function analyzer (ANYSIS 200) in cardiology patients | CLINICA CHIMICA ACTA |
| 2017 | Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing
| ONCOTARGET |
| 2007 | VERSANT Hepatitis B Virus DNA 3.0 검사와 Digene Hybrid Capture II Hepatitis B Virus DNA 검사의 비교 및 B형 간염 임상상과의 관련성
| KOREAN JOURNAL OF LABORATORY MEDICINE |
| 1996 | Vibrio cholerae non-O1 중이염 1예
| Korean Journal of Clinical Pathology(대한임상병리학회지) |
| 1996 | 건강인에서 연령,성별 및 ABO 혈액형에 따른 혈장 von Willebrand Factor 항원 농도의 차이 | Korean Journal of Hematosis and Thrombosis(한국지혈혈전학회지) |
| 2016 | 고시트룰린혈증의 신생아 선별검사 후 진단 알고리즘
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
| 1998 | 골수이형성 증후군과 Epstein-Barr Virus 및 Human Parvovirus B19 감염의 관련성 검토
| Korean Journal of Clinical Pathology (대한임상병리학회지) |
| 2001 | 급성백혈병 환자에서 거핵구 이형성과 염색체 3q 이상과의 관련성 분석.
| Korean Journal of Clinical Pathology (대한임상병리학회지) |
| 2008 | 듀센형근이영양증 유전자의 결실 돌연변이 검출을 위한 Dual Priming Oligonucleotide 다중 PCR법의 평가
| KOREAN JOURNAL OF LABORATORY MEDICINE |
| 2015 | 디스트로핀 유전자에 새로이 발견된 불연속적 엑손 중복을 보이는 Duchenne형 근디스트로피 환자 5예
| Laboratory Medicine Online |
| 1996 | 만성 신부전 환자에서 혈액투석 전후의 혈장 von Willebrand factor 항원 변화 | Korean Journal of Hematosis and Thrombosis(한국지혈혈전학회지) |
| 2004 | 복부전산화단층촬영에서 악성림프종 유사 소견을 보인 골수섬유증 2예 : 광범위한 림프절병을 동반한 전신성홍반성낭창 연관성 자가면역성골수섬유증 및 비장내 국소성 골수외조혈을 보인 만성원발성골수섬유증
| KOREAN JOURNAL OF LABORATORY MEDICINE |
| 1998 | 복합적 염색체 이상을 보인 비분비형 형질세포백 혈병 1례
| Korean Journal of Hematology (대한혈액학회지) |
