| 2022 | Generation of a human induced pluripotent stem cell line YCMi004-A from a patient with dilated cardiomyopathy carrying a protein-truncating mutation of the Titin gene and its differentiation towards cardiomyocytes
| STEM CELL RESEARCH |
| 2020 | Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
| Endocrinology and Metabolism (대한내분비학회지) |
| 2019 | Genetic and clinical features of SCN8A developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
| 2020 | Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern | EPILEPSY RESEARCH |
| 2023 | Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
| FRONTIERS IN IMMUNOLOGY |
| 2020 | Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study
| SCIENTIFIC REPORTS |
| 2022 | Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy
| FRONTIERS IN NEUROLOGY |
| 2006 | GnRH (Gonadotropin-Releasing Hormone)에 의한 자궁내막암 유래 세포주의 세포 증식 억제 기전에 있어서 Integrin, FAK (FocalAdhesion Kinase) 및 ERK (Extracellular Signal Regulated Kinase)의 역할
| Korean Journal of the Fertility and Sterility |
| 2016 | Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea
| INFECTION AND CHEMOTHERAPY |
| 1998 | Hereditary Protein C Deficiency with Recurrent Thrombosis Identification of a Missense Mutation (C6218T)
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 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 |
| 2005 | Homozygous type I Protein C deficiency in neonatal purpura fulminans with a novel frame-shift deletion of 10 base pairs in exon 8 of PROC gene | JOURNAL OF THROMBOSIS AND HAEMOSTASIS |
| 2001 | Homozygous V/V (677C to T) and D/D (2756G to A) variants in the methylenetetrahydrofolate and methionine synthase genes in a case of hyperhomocysteinemia with stroke at young age
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2010 | Identification of adenovirus, influenza virus, parainfluenza virus, and respiratory syncytial virus by two kinds of multiplex polymerase chain reaction (PCR) and a shell vial culture in pediatric patients with viral pneumonia
| YONSEI MEDICAL JOURNAL |
| 2017 | Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization
| PLOS ONE |
| 2022 | Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients
| JOURNAL OF MOLECULAR DIAGNOSTICS |
| 2021 | Impact of maternal engrafted cytomegalovirus-specific CD8 + T cells in a patient with severe combined immunodeficiency
| CLINICAL & TRANSLATIONAL IMMUNOLOGY |
| 2021 | In Silico identification of a common mobile element insertion in exon 4 of RP1
| SCIENTIFIC REPORTS |
| 2023 | In-depth circulating tumor DNA sequencing for prognostication and monitoring in natural killer/T-cell lymphomas
| FRONTIERS IN ONCOLOGY |
| 2023 | Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian Cancer | CLINICAL CANCER RESEARCH |
| 2007 | Investigation of von Willebrand factor gene mutations in Korean von Willebrand disease patients
| KOREAN JOURNAL OF LABORATORY MEDICINE |
| 2015 | Isochromosome 1q in childhood Burkitt lymphoma: the first reported case in Korea
| ANNALS OF LABORATORY MEDICINE |
| 2015 | Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray
| ANNALS OF LABORATORY MEDICINE |
| 2009 | JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature | CANCER GENETICS AND CYTOGENETICS |
| 2017 | KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예
| Journal of the Korean Child Neurology Society |
| 2016 | Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015
| ANNALS OF LABORATORY MEDICINE |
| 2010 | Leukemic transformation associated with massive hyperdiploidy in myelodysplastic syndrome (MDS) with der(1;7)(q10;p10): a novel case study | LEUKEMIA RESEARCH |
| 2008 | Linear relationship between ADAMTS13 activity and platelet dynamics even before severe thrombocytopenia | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2020 | Low-Dose Triple Antihypertensive Combination Therapy in Patients with Hypertension: A Randomized, Double-Blind, Phase II Study
| DRUG DESIGN DEVELOPMENT AND THERAPY |
| 2022 | Metabolic subtype reveals potential therapeutic vulnerability in acute promyelocytic leukaemia
| CLINICAL AND TRANSLATIONAL MEDICINE |
| 2015 | MicroRNA-30d and microRNA-181a regulate HOXA11 expression in the uterosacral ligaments and are overexpressed in pelvic organ prolapse
| JOURNAL OF CELLULAR AND MOLECULAR MEDICINE |
| 2016 | Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication
| ANNALS OF LABORATORY MEDICINE |
| 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 |
| 2017 | Molecular epidemiology and resistome analysis of multidrug-resistant ST11 Klebsiella pneumoniae strain containing multiple copies of extended-spectrum β-lactamase genes using whole-genome sequencing
| NEW MICROBIOLOGICA |
| 2017 | Mowat-Wilson syndrome presenting with fever-associated seizures | EPILEPTIC DISORDERS |
| 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 |
