| 2020 | Newborn hereditary elliptocytosis confirmed by familial genetic testing | INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY |
| 2020 | Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy
| FRONTIERS IN PHARMACOLOGY |
| 2017 | Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
| ANNALS OF SURGICAL TREATMENT AND RESEARCH |
| 2022 | Next-generation sequencing of molecular tagged circulating cell free DNA of hepatocellular carcinoma | CLINICA CHIMICA ACTA |
| 2019 | Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
| BMC Medical Genomics |
| 2009 | Non-age related Y chromosome loss in an elderly patient with acute promyelocytic leukemia. | LEUKEMIA RESEARCH |
| 2022 | Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus
| TRANSLATIONAL VISION SCIENCE & TECHNOLOGY |
| 2015 | NOTCH2 missplicing can occur in relation to apoptosis | BLOOD |
| 2021 | Novel indel mutation in the N gene of SARS-CoV-2 clinical samples that were diagnosed positive in a commercial RT-PCR assay | VIRUS RESEARCH |
| 2022 | Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample
| CANCER CELL INTERNATIONAL |
| 2011 | Osteolytic mandible presenting as an initial manifestation of an adult acute lymphoblastic leukaemia | INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY |
| 2009 | Oxidative status in iron-deficiency anemia. | JOURNAL OF CLINICAL LABORATORY ANALYSIS |
| 2017 | Panel strain of Klebsiella pneumoniae for beta-lactam antibiotic evaluation: their phenotypic and genotypic characterization
| PEERJ |
| 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 | Pharmacokinetic comparison of sustained- and immediate-release oral formulations of cilostazol in healthy Korean subjects: a randomized, open-label, 3-part, sequential, 2-period, crossover, single-dose, food-effect, and multiple-dose study | CLINICAL THERAPEUTICS |
| 2019 | Phenotypic and genotypic characterization of Acinetobacter spp. panel strains: A cornerstone to facilitate antimicrobial development
| FRONTIERS IN MICROBIOLOGY |
| 2006 | Plasma factor XIII activity in patients with disseminated intravascular coagulation
| YONSEI MEDICAL JOURNAL |
| 2006 | Plasma level of IL-6 and its relationship to procoagulant and fibrinolytic markers in acute ischemic stroke
| YONSEI MEDICAL JOURNAL |
| 2009 | Polymorphism of a COLIA1 gene Sp1 binding site in Korean women with pelvic organ prolapse.
| YONSEI MEDICAL JOURNAL |
| 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 |
| 2022 | Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort
| GENES |
| 2001 | Presence of 844ins68 in the cystathionine beta-synthase gene in Asians (Koreans) | THROMBOSIS AND HAEMOSTASIS |
| 2020 | Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
| SCIENTIFIC REPORTS |
| 2022 | Prevalence and Genetic Analysis of Resistance Mechanisms of Linezolid-Nonsusceptible Enterococci in a Tertiary Care Hospital Examined via Whole-Genome Sequencing
| ANTIBIOTICS-BASEL |
| 1998 | Prevalence of Arg306 Mutation of the Factor V Gene in Korean Patients With Thrombosis | HAEMOSTASIS |
| 2019 | Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities | PEDIATRIC NEUROLOGY |
| 2010 | Prognostic significance of trisomy 6 in an adult acute myeloid leukemia with t(8;21). | CANCER GENETICS AND CYTOGENETICS |
| 2013 | Proper Indication of BRAFV600E Mutation Testing in Fine-Needle Aspirates of Thyroid Nodules
| PLOS ONE |
| 1998 | Protein C 결핍증에서 유전자 점돌연변이(C6218T) 검색 | Korean Journal of Hematosis and Thrombosis (한국지혈혈전학회지) |
| 1999 | Protein C 유전자의 Novel Splice Site Polymorphism (G3223T) 검색 가계의 유전양상과 변이 대립유전자 비율 | Korean Journal of Hematosis and Thrombosis (한국지혈혈전학회지) |
| 2011 | Rapid identification of thrombocytopenia-associated multiple organ failure using red blood cell parameters and a volume/hemoglobin concentration cytogram
| YONSEI MEDICAL JOURNAL |
| 2008 | Rare translocations involving chromosome band 8p11 in myeloid neoplasms. | CANCER GENETICS AND CYTOGENETICS |
| 2022 | Real-world data on prognostic value of measurable residual disease assessment by fragment analysis or next-generation sequencing in multiple myeloma | BRITISH JOURNAL OF HAEMATOLOGY |
| 2020 | Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
| FRONTIERS IN NEUROLOGY |
| 2021 | Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
| SCIENTIFIC REPORTS |
| 2003 | Rifampin 내성 결핵의 진단에서 INNO-LiPA 검사법의 임상적 의미
| TUBERCULOSIS AND RESPIRATORY DISEASES |
| 2015 | Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder
| ANNALS OF LABORATORY MEDICINE |
| 2022 | Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer
| Laboratory Medicine Online |
| 2024 | Serial Circulating Tumor DNA Analysis with a Tumor-Naïve Next-Generation Sequencing Panel Detects Minimal Residual Disease and Predicts Outcome in Ovarian Cancer | CANCER RESEARCH |
| 2018 | SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation. | ANNALS OF HEMATOLOGY |
| 2019 | Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy
| PLoS One |
| 2013 | Study of peripheral BRAFV600E mutation as a possible novel marker for papillary thyroid carcinomas | HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK |
| 2012 | Submicroscopic deletion of FGFR1 gene is recurrently detected in myeloid and lymphoid neoplasms associated with ZMYM2-FGFR1 rearrangements: a case study | ACTA HAEMATOLOGICA |
| 2016 | Survey of Clinical Laboratory Practices for 2015 Middle East Respiratory Syndrome Coronavirus Outbreak in the Republic of Korea
| ANNALS OF LABORATORY MEDICINE |
| 2019 | Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
| Scientific Reports |
| 2016 | t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2007 | t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma | CANCER GENETICS AND CYTOGENETICS |
| 2018 | Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
| 2020 | Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy | BRAIN & DEVELOPMENT |
| 2019 | Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neopla는
| PLOS ONE |
| 2017 | Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatment | PSYCHONEUROENDOCRINOLOGY |
| 2009 | The clopidogrel resistance can be attenuated with triple antiplatelet therapy in patients undergoing drug-eluting stents implantation | INTERNATIONAL JOURNAL OF CARDIOLOGY |
| 2017 | The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma
| SCIENTIFIC REPORTS |
| 2018 | The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy
| FRONTIERS IN NEUROLOGY |
| 2009 | The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 2023 | The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective
| INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
| 2013 | The MLL recombinome of acute leukemias in 2013
| LEUKEMIA |
| 2009 | The relationship between COL3A1 exon 31 polymorphism and pelvic organ prolapse. | JOURNAL OF UROLOGY |
| 2009 | The role of BRAFV600E mutation and ultrasonography for the surgical management of a thyroid nodule suspicious for papillary thyroid carcinoma on cytology | ANNALS OF SURGICAL ONCOLOGY |
