| 2024-07 |
Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies |
Annals of Laboratory Medicine
|
| 2024-07 |
NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution |
Annals of Laboratory Medicine
|
| 2024-03 |
Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights |
Frontiers in Oncology
|
| 2024-03 |
Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy |
Epilepsia
|
| 2024-02 |
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
|
| 2024-02 |
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
|
| 2024-01 |
Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes |
Cancer Research and Treatment
|
| 2023-12 |
PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans–Like Nystagmus |
JOURNAL OF NEURO-OPHTHALMOLOGY
|
| 2023-09 |
Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia |
BMC Medical Genomics
|
| 2023-08 |
Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression |
Cancers
|
| 2023-08 |
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
|
| 2023-07 |
Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian Cancer |
Clinical Cancer Research
|
| 2023-07 |
Clinical relevance of clonal hematopoiesis and its interference in cell-free DNA profiling of patients with gastric cancer |
Clinical Chemistry and Laboratory Medicine
|
| 2023-07 |
Exploring the Characteristics of Circulating Tumor DNA in Pt1a Clear Cell Renal Cell Carcinoma: A Pilot Study |
Cancers
|
| 2023-07 |
Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With <i>BRCA</i>-Mutated Ovarian Cancer |
Clinical Cancer Research
|
| 2023-07 |
Development of a Next-generation Sequencing-based Gene Panel Test to Detect Measurable Residual Disease in Acute Myeloid Leukemia |
Annals of Laboratory Medicine
|
| 2023-05 |
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing |
Frontiers in Immunology
|
| 2023-05 |
Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing |
Cancer Cell International
|
| 2023-03 |
Comparative Analysis of the Molecular Characteristics of Group B Streptococcus Isolates Collected from Pregnant Korean Women Using Whole-genome Sequencing |
Annals of laboratory medicine
|
| 2023-02 |
The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective |
International Journal of Molecular Sciences
|
| 2023-02 |
In-depth circulating tumor DNA sequencing for prognostication and monitoring in natural killer/T-cell lymphomas |
Frontiers in Oncology
|
| 2023-01 |
Copy-number analysis by base-level normalization: An intuitive visualization tool for evaluating copy number variations |
Clinical Genetics
|
| 2022-12 |
Analysis of trio test in neurodevelopmental disorders |
Frontiers in Pediatrics
|
| 2022-12 |
Analytical and Clinical Validation of Cell-Free Circulating Tumor DNA Assay for the Estimation of Tumor Mutational Burden |
Clinical chemistry
|
| 2022-11 |
Prevalence and Genetic Analysis of Resistance Mechanisms of Linezolid-Nonsusceptible Enterococci in a Tertiary Care Hospital Examined via Whole-Genome Sequencing |
Antibiotics
|
| 2022-10 |
Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample |
CANCER CELL INTERNATIONAL
|
| 2022-10 |
Applications of molecular barcode sequencing for the detection of low-frequency variants in circulating tumour DNA from hepatocellular carcinoma |
Liver International
|
| 2022-08 |
An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met |
Stem Cell Research
|
| 2022-08 |
Feasibility and clinical applicability of genomic profiling based on cervical smear samples in patients with endometrial cancer |
Frontiers in Oncology
|
| 2022-08 |
Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy |
Frontiers in Neurology
|
| 2022-08 |
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
|
| 2022-07 |
Metabolic subtype reveals potential therapeutic vulnerability in acute promyelocytic leukaemia |
Clinical and translational medicine
|
| 2022-06 |
Amplification of the Chromosomal blaCTX-M-14 Gene in Escherichia coli Expanding the Spectrum of Resistance under Antimicrobial Pressure |
Microbiology spectrum
|
| 2022-06 |
Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus |
Translational Vision Science and Technology
|
| 2022-05 |
Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma |
SCIENTIFIC REPORTS
|
| 2022-04 |
A Single-Center Experience on HLA Typing with 11 Loci Next Generation Sequencing in Korean Patients with Hematologic Disease |
Diagnostics
|
| 2022-04 |
조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고 |
Laboratory Medicine Online
|
| 2022-04 |
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
|
| 2022-03 |
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
|
| 2022-01 |
Trajectory of genetic alterations associated with colistin resistance in Acinetobacter baumannii during an in-hospital outbreak of infection |
Journal of Antimicrobial Chemotherapy
|
| 2022-01 |
식도암 환자에서 액체생검을 통해 확인된 이차 생식세포 CDKN2A 돌연변이: 증례보고 |
Laboratory Medicine Online
|
| 2022-01 |
Precision medicine through next-generation sequencing in inherited eye diseases in a Korean cohort |
Genes
|
| 2022-01 |
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
|
| 2021-10 |
The Role of Ion Channel-Related Genes in Autism Spectrum Disorder: A Study Using Next-Generation Sequencing |
FRONTIERS IN GENETICS
|
| 2021-10 |
Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His. |
STEM CELL RESEARCH
|
| 2021-09 |
Concomitant Diagnosis of Primary Bone Marrow B-Cell Non-Hodgkin Lymphoma and Essential Thrombocythemia: A Case Report |
ANNALS OF LABORATORY MEDICINE
|
| 2021-09 |
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
|
| 2021-07 |
Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome |
EPILEPSIA
|
| 2021-06 |
In Silico identification of a common mobile element insertion in exon 4 of RP1 |
SCIENTIFIC REPORTS
|
| 2021-04 |
Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients |
SCIENTIFIC REPORTS
|
| 2021-04 |
Chimerism Assay Using Single Nucleotide Polymorphisms Adjacent and in Linkage-Disequilibrium Enables Sensitive Disease Relapse Monitoring after Hematopoietic Stem-Cell Transplantation |
CLINICAL CHEMISTRY
|
| 2021-04 |
Impact of maternal engrafted cytomegalovirus-specific CD8<sup>+</sup> T cells in a patient with severe combined immunodeficiency |
Clinical & Translational Immunology
|
| 2021-03 |
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish |
HUMAN MOLECULAR GENETICS
|
| 2021-02 |
Clinical characteristics of KCNQ2 encephalopathy |
BRAIN & DEVELOPMENT
|
| 2020-12 |
Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population |
Endocrinology and Metabolism
|
| 2020-11 |
Fusobacterium nucleatum in biopsied tissues from colorectal cancer patients and alcohol consumption in Korea |
SCIENTIFIC REPORTS
|
| 2020-11 |
Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy |
CLINICA CHIMICA ACTA
|
| 2020-10 |
A Novel KPC Variant KPC-55 in Klebsiella pneumoniae ST307 of Reinforced Meropenem-Hydrolyzing Activity |
FRONTIERS IN MICROBIOLOGY
|
| 2020-10 |
Beneficial Chromosomal Integration of the Genes for CTX-M Extended-Spectrum -Lactamase in Klebsiella pneumoniae for Stable Propagation |
mSystems
|
| 2020-09 |
Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma |
HAEMATOLOGICA
|
| 2020-08 |
Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study |
SCIENTIFIC REPORTS
|
| 2020-08 |
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia |
SCIENTIFIC REPORTS
|
| 2020-07 |
genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern |
EPILEPSY RESEARCH
|
| 2020-06 |
Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy |
BRAIN & DEVELOPMENT
|
| 2020-06 |
Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations |
FRONTIERS IN NEUROLOGY
|
| 2020-05 |
Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy |
FRONTIERS IN PHARMACOLOGY
|
| 2020-02 |
Copy number variations and multiallelic variants in Korean patients with leber congenital amaurosis |
MOLECULAR VISION
|
| 2020-02 |
Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next-generation sequencing approaches |
HEMATOLOGICAL ONCOLOGY
|
| 2020-02 |
Newborn hereditary elliptocytosis confirmed by familial genetic testing |
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
|
| 2020-02 |
Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development |
PEDIATRIC NEUROLOGY
|
| 2019-12 |
Genetic and clinical features of SCN8A developmental and epileptic encephalopathy |
EPILEPSY RESEARCH
|
| 2019-12 |
Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia |
LEUKEMIA & LYMPHOMA
|
| 2019-10 |
Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities |
PEDIATRIC NEUROLOGY
|
| 2019-07 |
Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis |
BMC MEDICAL GENOMICS
|
| 2019-06 |
Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy |
PLOS ONE
|
| 2019-04 |
The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report |
BMC MEDICAL GENETICS
|
| 2019-03 |
Phenotypic and genotypic characterization of Acinetobacter spp. panel strains: A cornerstone to facilitate antimicrobial development |
FRONTIERS IN MICROBIOLOGY
|
| 2019-03 |
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency |
SCIENTIFIC REPORTS
|
| 2019-03 |
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms |
PLOS ONE
|
| 2019-03 |
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
|
| 2019-01 |
Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies |
JOURNAL OF MOLECULAR DIAGNOSTICS
|
| 2018-12 |
Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing |
Journal of the Korean Child Neurology Society(대한소아신경학회지)
|
| 2018-09 |
SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation |
ANNALS OF HEMATOLOGY
|
| 2018-08 |
A patient with B-cell acute lymphoblastic leukemia with PAX5-ETV6 rearrangement with dic(9;12)(p13;p13) identified by chromosomal microarray |
ANNALS OF HEMATOLOGY
|
| 2018-07 |
The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy |
FRONTIERS IN NEUROLOGY
|
| 2018-03 |
Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy |
EPILEPSY RESEARCH
|
| 2018-02 |
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing |
BMC MEDICAL GENOMICS
|
| 2018-01 |
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development |
ANNALS OF LABORATORY MEDICINE
|
| 2018-01 |
Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population |
ANNALS OF LABORATORY MEDICINE
|
| 2017-12 |
Mowat-Wilson syndrome presenting with fever-associated seizures. |
EPILEPTIC DISORDERS
|
| 2017-12 |
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome |
JAMA OPHTHALMOLOGY
|
| 2017-09 |
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis |
MOLECULAR VISION
|