| 2015 | First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome
| ANNALS OF LABORATORY MEDICINE |
| 2020 | Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M Mutation
| JOURNAL OF CANCER |
| 2008 | Functional haplotype Frequencies of the Interleukin-1B Promoter in the Korean Population
| Genomics & Informatics |
| 2020 | Genetic Spectrum of UGT1A1 in Korean Patients With Unconjugated Hyperbilirubinemia
| ANNALS OF LABORATORY MEDICINE |
| 2003 | Haplotype Structure of the UDP-Glucuronosyltransferase 1A1 (UGT1A1) Gene and Its Relationship to Serum Total Bilirubin Concentration in a Male Korean Population
| CLINICAL CHEMISTRY |
| 2021 | Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer
| JOURNAL OF CANCER |
| 2009 | Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA). | THROMBOSIS RESEARCH |
| 2006 | Heterozygosities of 735 microsatellite markers and background linkage disequilibrium in the Korean population
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2012 | Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients
| YONSEI MEDICAL JOURNAL |
| 2021 | Identification of a novel HLA-C*03:04 allele, HLA-C*03:04:84, in a Korean individual | HLA |
| 2017 | Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization
| PLOS ONE |
| 2024 | Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer
| ANNALS OF LABORATORY MEDICINE |
| 2001 | Increased frequencies of glutathione S-transferase(GSTM1 and GSTT1) gene deletions in Korean patients with acquired aplastic anemia
| BLOOD |
| 2007 | Interaction of polymorphisms in the Interleukin 1B-31 and general transcription factor 2A1 genes on the susceptibility to gastric cancer | CYTOKINE |
| 2010 | Interleukin 10 polymorphisms differentially influence the risk of gastric cancer in East Asians and Caucasians | CYTOKINE |
| 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 |
