| 2008 | 8번 염색체 사체성을 보인 급성단구성백혈병 1예
| KOREAN JOURNAL OF LABORATORY MEDICINE |
| 2013 | A Case of Late-Onset Li-Fraumeni-like Syndrome with Unilateral Breast Cancer
| ANNALS OF LABORATORY MEDICINE |
| 2010 | A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis
| KOREAN JOURNAL OF LABORATORY MEDICINE |
| 2018 | A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories
| BIOMED RESEARCH INTERNATIONAL |
| 2007 | A der(1;15)(q10;q10) is a rare nonrandom whole-arm translocation in patients with acute lymphoblastic leukemia | CANCER GENETICS AND CYTOGENETICS |
| 2012 | A Gly1609Arg missense mutation in the vWF gene in a Korean patient with von Willebrand disease type 2A | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2011 | A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2014 | A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene
| Korean Journal of Ophthalmology |
| 2018 | A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases
| YONSEI MEDICAL JOURNAL |
| 2020 | A novel approach for tuberculosis diagnosis using exosomal DNA and droplet digital PCR | CLINICAL MICROBIOLOGY AND INFECTION |
| 2017 | A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization
| PLOS ONE |
| 2008 | A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
| BMC MEDICAL GENETICS |
| 2013 | A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis | BLOOD COAGULATION & FIBRINOLYSIS |
| 2008 | A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. | CANCER GENETICS AND CYTOGENETICS |
| 2002 | A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia | JOURNAL OF HUMAN GENETICS |
| 2009 | A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2011 | A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies
| ACTA DERMATO-VENEREOLOGICA |
| 2013 | A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss | BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS |
| 2012 | A novel three-way variant t(4;17;5)(p16;q23;q31) in a case of secondary plasma cell leukemia. | LEUKEMIA RESEARCH |
| 2021 | A Population-Based Analysis of BRCA1/ 2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study
| CANCERS |
| 2009 | A tandem triplication, trp(1)(q21q32), in a patient with follicular lymphoma: a case study and review of the literature | CANCER GENETICS AND CYTOGENETICS |
| 2008 | Acute erythroleukemia with der(1;7)(q10;p10) as a sole acquired abnormality after treatment with azathioprine. | CANCER GENETICS AND CYTOGENETICS |
| 2009 | Acute promyelocytic leukemia in early pregnancy with translocation t(15;17) and variant PML/RARA fusion transcripts | CANCER GENETICS AND CYTOGENETICS |
| 2009 | Acute promyelocytic leukemia with insertion of PML exon 7a and partial deletion of exon 3 of RARA: a novel variant transcript related to aggressive course and not detected with real-time polymerase chain reaction analysis | CANCER GENETICS AND CYTOGENETICS |
| 2011 | Acute promyelocytic leukemia with trisomy 8 and del(9)(q22) after treatment of cervical cancer with concurrent chemoradiotherapy: a case report. | ONKOLOGIE |
| 2012 | ALK-positive anaplastic large cell lymphoma with TPM3-ALK translocation. | LEUKEMIA RESEARCH |
| 2010 | Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2). | JOURNAL OF DERMATOLOGICAL SCIENCE |
| 2020 | An optimized BRCA1/2 next-generation sequencing for different clinical sample types
| JOURNAL OF GYNECOLOGIC ONCOLOGY |
| 2010 | An SRY-deleted XXY female resulting from a paternally inherited t(Y;22) | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2013 | Analysis of mutations in the XPD gene in a patient with brittle hair | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2015 | Analytical Performance of Multiplex Real-Time PCR for Six Sexually Transmitted Pathogens | CLINICAL LABORATORY |
| 2020 | Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy | CLINICA CHIMICA ACTA |
| 2022 | Application of CRISPR/Cas9-based mutant enrichment technique to improve the clinical sensitivity of plasma EGFR testing in patients with non-small cell lung cancer
| CANCER CELL INTERNATIONAL |
| 2017 | Assessment of real-time PCR method for detection of EGFR mutation using both supernatant and cell pellet of malignant pleural effusion samples from non-small-cell lung cancer patients | CLINICAL CHEMISTRY AND LABORATORY MEDICINE |
| 2007 | Association Between a Polymorphism in the Lymphotoxin−a Promoter Region and Migraine | HEADACHE |
| 2010 | Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population. | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2022 | Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer
| NPJ BREAST CANCER |
| 1996 | Autoanti-Ce에 의한 자가면역성 용혈성 빈혈 1예
| Korean Journal of Blood Transfusion(대한수혈학회지) |
| 2010 | Automated detection of malaria-associated pseudoeosinophilia and abnormal WBC scattergram by the Sysmex XE-2100 hematology analyzer: a clinical study with 1,801 patients and real-time quantitative PCR analysis in vivax malaria-endemic area
| AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE |
| 2009 | BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia. | CANCER GENETICS AND CYTOGENETICS |
| 2008 | Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion | PEDIATRIC NEUROLOGY |
| 2009 | Biphenotypic acute leukemia with b2a2 fusion transcript and trisomy 21 | CANCER GENETICS AND CYTOGENETICS |
| 2017 | Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans
| PLOS ONE |
| 2014 | Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma
| BLOOD RESEARCH |
| 2015 | Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.
| JOURNAL OF MEDICAL GENETICS |
| 2020 | Burden of premature ventricular contractions beyond nonsustained ventricular tachycardia is related to the myocardial extracellular space expansion in patients with hypertrophic-cardiomyopathy
| CLINICAL CARDIOLOGY |
| 2009 | CASP8AP2 is a novel partner gene of MLL rearrangement with t(6;11)(q15;q23) in acute myeloid leukemia | CANCER GENETICS AND CYTOGENETICS |
| 2022 | Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death
| JOURNAL OF AUTOIMMUNITY |
| 2008 | Cataloging coding sequence variations in human genome databases
| PLOS ONE |
| 2004 | CD34음성 비아세포성 성숙골수계 세포에서 비정상적인 N-CAM (CD56)항원 발현을 보인 만성골수성백혈병 1예
| KOREAN JOURNAL OF LABORATORY MEDICINE |
| 2012 | CD5-negative blastoid variant mantle cell lymphoma with complex CCND1/IGH and MYC aberrations
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients | JOURNAL OF HUMAN GENETICS |
| 2023 | Characteristic Chest Computed Tomography Findings for Birt-Hogg-Dube Syndrome Indicating Requirement for Genetic Evaluation
| DIAGNOSTICS |
| 2002 | Chromosomal Abnormalities at 11q23 after Topoisomerase Ⅱ Inhibitor Treatment : A Report of Three Cases
| Korean Journal of Clinical Pathology (대한임상병리학회지) |
| 2018 | Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
| ANNALS OF LABORATORY MEDICINE |
| 2017 | Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines
| ANNALS OF LABORATORY MEDICINE |
| 2022 | Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing
| ANNALS OF LABORATORY MEDICINE |
| 2009 | Clinical Significance of von Willebrand Factor-Cleaving Protease (ADAMTS13) Deficiency in Patients with Sepsis-Induced Disseminated Intravascular Coagulation
| INFECTION AND CHEMOTHERAPY (감염과 화학요법) |
| 2021 | Comparison of antinuclear antibody profiles obtained using line immunoassay and fluorescence enzyme immunoassay | JOURNAL OF INTERNATIONAL MEDICAL RESEARCH |
| 2023 | Comparison of Homologous Recombination Repair Gene Next-Generation Sequencing Analysis in Patients With Metastatic Castration-Resistant Prostate Cancer Between Local and Central Laboratories in Korea
| ANNALS OF LABORATORY MEDICINE |
