| 2009 | De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
| Korean Journal of Pediatrics |
| 2018 | Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development.
| ANNALS OF LABORATORY MEDICINE |
| 2012 | Delta neutrophil index: a promising diagnostic and prognostic marker for sepsis | SHOCK |
| 2009 | der(1)t(1;19)(p13;p13.1) in two elderly patients with myeloid neoplasms: new case reports and review of the literature. | LEUKEMIA RESEARCH |
| 2022 | Derivation of YCMi005-A, a human-induced pluripotent stem cell line, from a patient with dilated cardiomyopathy carrying missense variant in TPM1 (p. Glu192Lys)
| STEM CELL RESEARCH |
| 2023 | Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders | JOURNAL OF MOLECULAR DIAGNOSTICS |
| 2009 | Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits | CANCER GENETICS AND CYTOGENETICS |
| 2003 | Detection of an Ala601Thr Mutation of Plasminogen Gene in 3 out of 36 Korean Patients with Deep Vein Thrombosis
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 2009 | Detection of FUS-ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11.2;q22) with unusual characteristics. | CANCER GENETICS AND CYTOGENETICS |
| 2017 | Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2020 | Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next-generation sequencing approaches | HEMATOLOGICAL ONCOLOGY |
| 2012 | Detection of SET-NUP214 rearrangement using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) in acute leukemias: a case report and literature review on a Korean case series | ANNALS OF HEMATOLOGY |
| 2010 | Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature | CANCER GENETICS AND CYTOGENETICS |
| 2016 | Development and comparison of warfarin dosing algorithms for stroke patients
| YONSEI MEDICAL JOURNAL |
| 2023 | Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing
| CANCER CELL INTERNATIONAL |
| 2023 | Development of a Next-generation Sequencing-based Gene Panel Test to Detect Measurable Residual Disease in Acute Myeloid Leukemi
| ANNALS OF LABORATORY MEDICINE |
| 2017 | Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
| MOLECULAR VISION |
| 1995 | Diagnostic efficacy of plasma urokinase-type plasminogen activator and plasminogen activator inhibitor-2 in differentiation of hepatocellular carcinoma from cirrhosis | THROMBOSIS AND HAEMOSTASIS |
| 2018 | Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단
| Journal of the Korean Child Neurology Society |
| 2011 | Diagnostic standardization of leukemia fusion gene detection system using multiplex reverse transcriptase-polymerase chain reaction in Korea
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 2011 | Diagnostic value of BRAF(V600E) mutation analysis of thyroid nodules according to ultrasonographic features and the time of aspiration. | ANNALS OF SURGICAL ONCOLOGY |
| 2023 | Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
| BMC MEDICAL GENOMICS |
| 2012 | Difference in serum nephrin expression between normal and preeclamptic pregnancies: A preliminary study.
| Korean Journal of Obstetrics and Gynecology |
| 2021 | Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome | EPILEPSIA |
| 2010 | Dual priming oligonucleotide-based multiplex PCR analysis for detection of BRAFV600E mutation in FNAB samples of thyroid nodules in BRAFV600E mutation-prevalent area | HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK |
| 2005 | Effectiveness of Real-Time Quantitative PCR Compare to Repeat PCR for the Diagnosis of Charcot-Marie-Tooth Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies
| YONSEI MEDICAL JOURNAL |
| 2017 | Effects of Neutralization by Soluble ABH Antigens Produced by Transplanted Kidneys From ABO-Incompatible Secretor Donors
| ANNALS OF LABORATORY MEDICINE |
| 2018 | Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
| BMC MEDICAL GENOMICS |
| 2021 | Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish | HUMAN MOLECULAR GENETICS |
| 2004 | Epidemiological characteristics and molecular basis of fluoroquinolone-resistant Neisseria gonorrhoeae strains isolated in Korea and nearby countries
| JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY |
| 2021 | Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His
| STEM CELL RESEARCH |
| 2016 | Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants | BREAST CANCER RESEARCH AND TREATMENT |
| 2002 | Evaluation of HER2/neu Status by Real-Time Quantitative PCR in Breast Cancer
| YONSEI MEDICAL JOURNAL |
| 2021 | Expanding the Non-Invasive Diagnosis of Acute Rejection in Kidney Transplants Through Detection of Donor-Derived DNA in Urine: Proof-of-Concept Study
| ANNALS OF LABORATORY MEDICINE |
| 2023 | Exploring the Characteristics of Circulating Tumor DNA in Pt1a Clear Cell Renal Cell Carcinoma: A Pilot Study
| CANCERS |
| 2022 | Feasibility and clinical applicability of genomic profiling based on cervical smear samples in patients with endometrial cancer
| FRONTIERS IN ONCOLOGY |
| 2012 | Fibrinogen residue γAla341 is necessary for calcium binding and 'A-a' interactions | THROMBOSIS AND HAEMOSTASIS |
| 2006 | Fibrinogen Seoul (FGG Ala341Asp): A novel mutation associated with hypodysfibrinogenemia | CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS |
| 2017 | First report of blaOXA-499 as a carbapenemase 1 gene from Acinetobacter pittii | ANTIMICROBIAL AGENTS AND CHEMOTHERAPY |
| 2019 | FLT3 Internal Tandem Duplication in Patients With Acute Myeloid Leukemia Is Readily Detectable in a Single Next-Generation Sequencing Assay Using the Pindel Algorithm
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2020 | Fusobacterium nucleatum in biopsied tissues from colorectal cancer patients and alcohol consumption in Korea
| SCIENTIFIC REPORTS |
| 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 |
