| 2024-07 |
Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies |
Annals of Laboratory Medicine
|
| 2024-05 |
Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines |
Annals of Laboratory Medicine
|
| 2024-03 |
Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer |
Annals of Laboratory Medicine
|
| 2024-02 |
Evaluation of diagnostic performance of SARS-CoV-2 infection using digital droplet polymerase chain reaction in individuals with or without COVID-19 symptoms |
Clinica Chimica Acta
|
| 2023-11 |
Cost-Effectiveness Analysis of Three Diagnostic Strategies for the Detection of EGFR Mutation in Advanced Non-Small Cell Lung Cancer |
Annals of laboratory medicine
|
| 2023-06 |
Outstanding Characteristics of Birt–Hogg–Dube Syndrome in Korea |
Diagnostics
|
| 2023-01 |
Characteristic Chest Computed Tomography Findings for Birt-Hogg-Dube Syndrome Indicating Requirement for Genetic Evaluation |
DIAGNOSTICS
|
| 2023-01 |
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
|
| 2023-01 |
Cost-Effectiveness Analysis of Germline and Somatic BRCA Testing in Patients With Advanced Ovarian Cancer |
Annals of Laboratory Medicine
|
| 2022-12 |
Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death |
JOURNAL OF AUTOIMMUNITY
|
| 2022-07 |
Applying Functional Assay Evidence to Interpret Sequence Variants Identified in Hereditary Cancer Genes |
Laboratory Medicine Online
|
| 2022-05 |
Primary endocrine resistance of ER+ breast cancer with ESR1 mutations interrogated by droplet digital PCR |
NPJ BREAST CANCER
|
| 2022-03 |
Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing |
ANNALS OF LABORATORY MEDICINE
|
| 2022-02 |
Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer |
NPJ BREAST CANCER
|
| 2022-02 |
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
|
| 2022-01 |
Comparison of IL-6 measurement methods with a special emphasis on COVID-19 patients according to equipment and sample type |
JOURNAL OF CLINICAL LABORATORY ANALYSIS
|
| 2021-12 |
Performance Evaluation of the KRYPTOR Compact PLUS Analyzer-Based B.R.A.H.M.S. CgA II KRYPTOR Assay for Chromogranin A Measurement |
Diagnostics
|
| 2021-10 |
Evaluation of a hybridization capture-based hereditary cancer panel for the ion semiconductor-next-generation sequencing system |
CLINICA CHIMICA ACTA
|
| 2021-08 |
De novo cancer incidence after kidney transplantation in south korea from 2002 to 2017 |
Journal of Clinical Medicine
|
| 2021-07 |
한국인 췌장암 환자에서 발견한 UGT1A1*37 대립유전자 1예 보고 |
Laboratory Medicine Online
|
| 2021-07 |
팬더시스템을 이용한 Aptima HBV 및 HCV 바이러스 검사의 진단 성능 평가 |
Laboratory Medicine Online
|
| 2021-06 |
Comparison of antinuclear antibody profiles obtained using line immunoassay and fluorescence enzyme immunoassay |
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
|
| 2021-05 |
A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study |
Cancers
|
| 2021-05 |
Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer |
JOURNAL OF CANCER
|
| 2021-04 |
Detection of EGFR-SEPT14 fusion in a cell-free DNA of a patient with advanced gastric cancer |
World journal of clinical cases
|
| 2021-03 |
Effect of sarcomere and mitochondria-related mutations on myocardial fibrosis in patients with hypertrophic cardiomyopathy |
JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
|
| 2021-01 |
Exosome-based detection of EGFR T790M in plasma and pleural fluid of prospectively enrolled NSCLC patients after first-line TKI therapy |
CANCER CELL INTERNATIONAL
|
| 2021-01 |
Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy |
CARDIOVASCULAR ULTRASOUND
|
| 2020-12 |
Establishment of Reference Intervals for Serum Insulin-Like Growth Factor I in Korean Adult Population |
Endocrinology and Metabolism
|
| 2020-11 |
Burden of premature ventricular contractions beyond nonsustained ventricular tachycardia is related to the myocardial extracellular space expansion in patients with hypertrophic-cardiomyopathy |
CLINICAL CARDIOLOGY
|
| 2020-11 |
Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy |
CLINICA CHIMICA ACTA
|
| 2020-10 |
Performance comparison of platelet function analyzers in cardiology patients: VerifyNow and Anysis-200 aspirin assays |
CLINICAL HEMORHEOLOGY AND MICROCIRCULATION
|
| 2020-07 |
A novel approach for tuberculosis diagnosis using exosomal DNA and droplet digital PCR |
CLINICAL MICROBIOLOGY AND INFECTION
|
| 2020-07 |
Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy |
MITOCHONDRION
|
| 2020-05 |
Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia |
ANNALS OF LABORATORY MEDICINE
|
| 2020-01 |
An optimized BRCA1/2 next-generation sequencing for different clinical sample types |
JOURNAL OF GYNECOLOGIC ONCOLOGY
|
| 2020-01 |
Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M Mutation |
JOURNAL OF CANCER
|
| 2020-01 |
Detection of Anti-Extractable Nuclear Antigens in Patients with Systemic Rheumatic Disease via Fluorescence Enzyme Immunoassay and Its Clinical Utility |
YONSEI MEDICAL JOURNAL
|
| 2019-10 |
CYP2C19 Polymorphisms and Smoking Status Affects Responsiveness to the Platelet P2Y12 Receptor Antagonist Clopidogrel |
Cardiovascular Prevention and Pharmacotherapy
|
| 2019-10 |
Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy |
CARDIOVASCULAR ULTRASOUND
|
| 2019-10 |
Diagnostic challenge: Primary bone marrow diffuse large B-cell lymphoma mimicking systemic autoimmune disorders |
Laboratory Medicine Online
|
| 2019-10 |
Selecting short length nucleic acids localized in exosomes improves plasma EGFR mutation detection in NSCLC patients |
CANCER CELL INTERNATIONAL
|
| 2019-02 |
Low PR in ER(+)/HER2(-) breast cancer: high rates of TP53 mutation and high SUV |
ENDOCRINE-RELATED CANCER
|
| 2019-01 |
Diagnostic performance of CA 125, HE4, and risk of Ovarian Malignancy Algorithm for ovarian cancer |
JOURNAL OF CLINICAL LABORATORY ANALYSIS
|
| 2018-11 |
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases |
ANNALS OF LABORATORY MEDICINE
|
| 2018-10 |
DeviCNV: Detection and Visualization of Exon-Level Copy Number Variants in Targeted Next Generation Sequencing Data |
BMC BIOINFORMATICS
|
| 2018-10 |
Electrocardiography based prediction of hypertrophy pattern and fibrosis amount in hypertrophic cardiomyopathy: comparative study with cardiac magnetic resonance imaging |
INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
|
| 2018-07 |
A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases |
YONSEI MEDICAL JOURNAL
|
| 2018-06 |
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
|
| 2018-05 |
A comparative study for detection of EGFR mutations in plasma cell-free DNA in Korean clinical diagnostic laboratories |
BIOMED RESEARCH INTERNATIONAL
|
| 2018-01 |
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development |
ANNALS OF LABORATORY MEDICINE
|
| 2017-12 |
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
|
| 2017-09 |
Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients |
ONCOTARGET
|
| 2017-09 |
Effects of Triflusal and Clopidogrel on the Secondary Prevention of Stroke Based on Cytochrome P450 2C19 Genotyping |
JOURNAL OF STROKE
|
| 2017-07 |
Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia |
ANNALS OF LABORATORY MEDICINE
|
| 2017-06 |
A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization |
PLOS ONE
|
| 2017-05 |
Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing |
ONCOTARGET
|
| 2017-05 |
Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects |
YONSEI MEDICAL JOURNAL
|
| 2017-03 |
Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines |
ANNALS OF LABORATORY MEDICINE
|
| 2017-03 |
Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization |
PLOS ONE
|
| 2017-03 |
Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia |
ANNALS OF LABORATORY MEDICINE
|
| 2017-02 |
Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans |
PLOS ONE
|
| 2016-11 |
Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation |
Neonatal medicine
|
| 2016-11 |
PRSS1, SPINK1,CFTR, and CTRC pathogenic variants in Korean patients with idiopathic pancreatitis |
ANNALS OF LABORATORY MEDICINE
|
| 2016-11 |
Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation |
ANNALS OF CLINICAL AND LABORATORY SCIENCE
|
| 2016-10 |
임상약물유전학 검사와 적용 : 진단검사의학 임상검사 지침-2부 |
Laboratory Medicine Online
|
| 2016-08 |
선천성 부신 과형성증(21-hydroxylase 결핍)의 신생아 선별 검사 후 진단 알고리즘 |
대한 유전성 대사질환 학회지
|
| 2016-08 |
고시트룰린혈증의 신생아 선별검사 후 진단 알고리즘 |
대한 유전성 대사질환 학회지
|
| 2016-08 |
아이소발레릭산혈증의 신생아선별검사 후 진단 및 치료 전략 |
대한 유전성 대사질환 학회지
|
| 2016-07 |
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
|
| 2016-06 |
임상약물유전학 검사와 적용: 진단검사의학 임상검사 지침 - 1부 |
Laboratory Medicine Online
|
| 2016-05 |
Development and comparison of warfarin dosing algorithms for stroke patients |
YONSEI MEDICAL JOURNAL
|
| 2016-03 |
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients |
JOURNAL OF HUMAN GENETICS
|
| 2015-11 |
Analytical Performance of Multiplex Real-Time PCR for Six Sexually Transmitted Pathogens. |
CLINICAL LABORATORY
|
| 2015-10 |
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
|
| 2015-09 |
Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder. |
ANNALS OF LABORATORY MEDICINE
|
| 2015-07 |
Novel Non-contiguous Duplications in the DMD Gene in Five Patients with Duchenne Muscular Dystrophy |
Laboratory Medicine Online
|
| 2015-06 |
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 (Korean journal of biochemistry)
|
| 2015-03 |
First Korean case of SATB2-associated 2q32-q33 deletion syndrome |
ANNALS OF LABORATORY MEDICINE
|
| 2014-11 |
Partial gene deletions of PMP22 causing hereditary neuropathy with liability to pressure palsies |
Case Reports in Genetics[electronic resource]
|
| 2014-09 |
Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma |
Blood Research
|
| 2014-07 |
Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency |
ANNALS OF LABORATORY MEDICINE
|
| 2014-05 |
Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations. |
LARYNGOSCOPE
|
| 2014-04 |
Evaluation of three automated nucleic acid extraction systems for identification of respiratory viruses in clinical specimens by multiplex real-time PCR |
BIOMED RESEARCH INTERNATIONAL
|
| 2014-04 |
Ethnic Differences in Genetic Susceptibility to Gastric Cancer : Allele Flips of Interleukin Gene between Asians and Non-Asians |
WORLD JOURNAL OF GASTROENTEROLOGY
|
| 2014-04 |
Differential association of RANTES-403 and IL-1B-1464 polymorphisms on histological subtypes in male Korean patients with gastric cancer |
TUMOR BIOLOGY
|
| 2014-03 |
Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients |
JOURNAL OF BREAST CANCER
|
| 2014-02 |
A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene |
Korean Journal of Ophthalmology
|
| 2014-01 |
Prevalence of sexually transmitted infections among healthy Korean women: Implications of multiplex PCR pathogen detection on antibiotic therapy |
JOURNAL OF INFECTION AND CHEMOTHERAPY
|
| 2014-01 |
Delta neutrophil index discriminates true bacteremia from blood culture contamination |
CLINICA CHIMICA ACTA
|
| 2013-10 |
Spectrum of EGFR Gene Copy Number Changes and KRAS Gene Mutation Status in Korean Triple Negative Breast Cancer Patients |
PLOS ONE
|
| 2013-07 |
Analysis of mutations in the XPD gene in a patient with brittle hair |
ANNALS OF CLINICAL AND LABORATORY SCIENCE
|
| 2013-06 |
A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis |
BLOOD COAGULATION & FIBRINOLYSIS
|
| 2013-05 |
A Case of Late-Onset Li-Fraumeni?like Syndrome with Unilateral Breast Cancer |
ANNALS OF LABORATORY MEDICINE
|