2018 | Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development.
| ANNALS OF LABORATORY MEDICINE |
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 |
2018 | Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-Gene Panels: Beyond BRCA1/2
| CANCER RESEARCH AND TREATMENT |
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 |
2016 | Detection of MYD88 L265P in patients with lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia and other B-cell non-Hodgkin lymphomas
| BLOOD RESEARCH |
2020 | Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next-generation sequencing approaches | HEMATOLOGICAL ONCOLOGY |
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 |
2018 | Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단
| Journal of the Korean Child Neurology Society |
2023 | Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
| BMC MEDICAL GENOMICS |
2018 | Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers. | CLINICAL BREAST CANCER |
2022 | Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
| HUMAN GENETICS |
2021 | Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome | EPILEPSIA |
2018 | Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' Exons | Anticancer Research |
2021 | DYNC2H1 variants cause Leber congenital amaurosis without syndromic features | CLINICAL GENETICS |
2018 | Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
| JOURNAL OF CLINICAL NEUROLOGY |
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 |
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 |
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 |
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 |
2016 | Genome-wide CpG island methylation and intergenic demethylation propensities vary among different tumor sites
| NUCLEIC ACIDS RESEARCH |
2020 | Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea
| ANNALS OF LABORATORY MEDICINE |
2017 | Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls
| CANCER RESEARCH AND TREATMENT |
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 |
2022 | Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer
| CANCER RESEARCH AND TREATMENT |
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 |
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 |
2017 | KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예
| Journal of the Korean Child Neurology Society |
2021 | Low CtBP2 expression is associated with a stem cell-like signature and adverse clinical outcome in childhood B-cell lymphoblastic leukemia | LEUKEMIA |
2022 | Metabolic subtype reveals potential therapeutic vulnerability in acute promyelocytic leukaemia
| CLINICAL AND TRANSLATIONAL MEDICINE |
2019 | Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome
| JAMA OPHTHALMOLOGY |
2017 | Mowat-Wilson syndrome presenting with fever-associated seizures | EPILEPTIC DISORDERS |
2019 | Mutant Thr95Ile Transthyretin-Related Cardiac Amyloidosis With Polyneuropathy
| CIRCULATION JOURNAL |
2016 | Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations
| ONCOTARGET |
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 |
2023 | Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation
| INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE |
2019 | Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
| BMC Medical Genomics |
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 |
2022 | Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample
| CANCER CELL INTERNATIONAL |
2022 | Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort
| GENES |
2020 | Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
| SCIENTIFIC REPORTS |