| 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
|
| 2024-05 |
Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays |
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 |
Association Between Aortic Valve Sclerosis and Clonal Hematopoiesis of Indeterminate Potential |
Annals of Laboratory Medicine
|
| 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
|
| 2023-11 |
Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation |
Investigative ophthalmology & visual science
|
| 2023-11 |
Application of precision medicine based on next-generation sequencing and immunohistochemistry in ovarian cancer: a real-world experience |
Journal of Gynecologic Oncology
|
| 2023-09 |
Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia |
BMC Medical Genomics
|
| 2023-08 |
Utility of Plasma Microbial Cell-Free DNA Whole-Genome Sequencing for Diagnosis of Invasive Aspergillosis in Patients With Hematologic Malignancy or COVID-19 |
Journal of Infectious Diseases
|
| 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 |
RAD51/geminin/γH2AX immunohistochemical expression predicts platinum-based chemotherapy response in ovarian high-grade serous carcinoma |
Journal of Gynecologic Oncology
|
| 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
|
| 2023-02 |
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 |
A Case of Spontaneous Regression and Recurrence of Primary Vitreoretinal Lymphoma |
Ocular Immunology and Inflammation
|
| 2022-11 |
Rare Gene Rearrangement t(11;22)(q23;q13)/KMT2AEP300 in Therapy-related Acute Myeloid Leukemia: A Case Report |
ANNALS OF LABORATORY MEDICINE
|
| 2022-10 |
Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer |
Cancer Research and Treatment
|
| 2022-10 |
순환종양핵산 검사의 임상 적용 |
Laboratory Medicine Online
|
| 2022-10 |
Recommendations for the Verification of Quantitative Molecular Hemato-Oncology Tests |
Laboratory Medicine Online
|
| 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
|
| 2022-09 |
Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia |
Journal of Cancer
|
| 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 |
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation |
Diseases of the Colon and Rectum
|
| 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 |
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation |
HUMAN GENETICS
|
| 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
|
| 2022-02 |
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
|
| 2022-02 |
Changes in DNA methylation after 6-week exercise training in colorectal cancer survivors: A preliminary study |
ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY
|
| 2022-01 |
식도암 환자에서 액체생검을 통해 확인된 이차 생식세포 CDKN2A 돌연변이: 증례보고 |
Laboratory Medicine Online
|
| 2022-01 |
A comparative study of next-generation sequencing and fragment analysis for the detection and allelic ratio determination of FLT3 internal tandem duplication |
DIAGNOSTIC PATHOLOGY
|
| 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
|
| 2021-11 |
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers |
SCIENTIFIC REPORTS
|
| 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 |
Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease Monitoring |
OCULAR IMMUNOLOGY AND INFLAMMATION
|
| 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
|
| 2021-09 |
Low CtBP2 expression is associated with a stem cell-like signature and adverse clinical outcome in childhood B-cell lymphoblastic leukemia |
LEUKEMIA
|
| 2021-07 |
Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome |
EPILEPSIA
|
| 2021-07 |
DYNC2H1 variants cause Leber congenital amaurosis without syndromic features |
CLINICAL GENETICS
|
| 2021-06 |
In Silico identification of a common mobile element insertion in exon 4 of RP1 |
SCIENTIFIC REPORTS
|
| 2021-05 |
Real-world data on the survival outcome of patients with newly diagnosed Waldenstrom macroglobulinemia |
KOREAN JOURNAL OF INTERNAL MEDICINE
|
| 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 |
TUBB3 M323V Syndrome Presents with Infantile Nystagmus |
Genes
|
| 2021-04 |
Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study |
SCIENTIFIC REPORTS
|
| 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
|
| 2021-01 |
혈액종양 분야의 차세대염기서열분석법 국내 실태 조사(2017-2018) |
Laboratory Medicine Online
|
| 2021-01 |
급성백혈병 진단검사 결과보고서의 표준 및 지침: 골수검사, 유세포검사, 세포/분자유전검사 |
Laboratory Medicine Online
|
| 2020-12 |
Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population |
Endocrinology and Metabolism
|
| 2020-11 |
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization |
HUMAN MOLECULAR GENETICS
|
| 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
|
| 2020-09 |
Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea |
ANNALS OF LABORATORY MEDICINE
|
| 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
|
| 2019-12 |
Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients with Infantile Nystagmus Syndrome |
JAMA OPHTHALMOLOGY
|
| 2019-12 |
Genetic and clinical features of SCN8A developmental and epileptic encephalopathy |
EPILEPSY RESEARCH
|
| 2019-10 |
Mutant Thr95Ile Transthyretin-Related Cardiac Amyloidosis With Polyneuropathy |
CIRCULATION JOURNAL
|