| 2023 | The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective
| INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
| 2022 | Analysis of trio test in neurodevelopmental disorders
| FRONTIERS IN PEDIATRICS |
| 2022 | Analytical and Clinical Validation of Cell-Free Circulating Tumor DNA Assay for the Estimation of Tumor Mutational Burden | CLINICAL CHEMISTRY |
| 2022 | Rare Gene Rearrangement t(11;22)(q23;q13)/ KMT2A-EP300 in Therapy-related Acute Myeloid Leukemia: A Case Report
| ANNALS OF LABORATORY MEDICINE |
| 2022 | Applications of molecular barcode sequencing for the detection of low-frequency variants in circulating tumour DNA from hepatocellular carcinoma | LIVER INTERNATIONAL |
| 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 |
| 2022 | Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample
| CANCER CELL INTERNATIONAL |
| 2022 | Recommendations for the Verification of Quantitative Molecular Hemato-Oncology Tests
| Laboratory Medicine Online |
| 2022 | 순환종양핵산 검사의 임상 적용
| Laboratory Medicine Online |
| 2022 | Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia
| JOURNAL OF CANCER |
| 2022 | 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 | Feasibility and clinical applicability of genomic profiling based on cervical smear samples in patients with endometrial cancer
| FRONTIERS IN ONCOLOGY |
| 2022 | Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy
| FRONTIERS IN NEUROLOGY |
| 2022 | 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 | Metabolic subtype reveals potential therapeutic vulnerability in acute promyelocytic leukaemia
| CLINICAL AND TRANSLATIONAL MEDICINE |
| 2022 | 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 & RECTUM |
| 2022 | Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus
| TRANSLATIONAL VISION SCIENCE & TECHNOLOGY |
| 2022 | Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma
| SCIENTIFIC REPORTS |
| 2022 | Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
| HUMAN GENETICS |
| 2022 | 조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고
| Laboratory Medicine Online |
| 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 |
| 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 |
| 2022 | Concomitant Diagnosis of Primary Bone Marrow B-Cell Non-Hodgkin Lymphoma and Essential Thrombocythemia: A Case Report
| ANNALS OF LABORATORY MEDICINE |
| 2022 | Changes in DNA methylation after 6-week exercise training in colorectal cancer survivors: A preliminary study | ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY |
| 2022 | 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 | Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer
| Laboratory Medicine Online |
| 2022 | 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 | Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort
| GENES |
| 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 | The Role of Ion Channel-Related Genes in Autism Spectrum Disorder: A Study Using Next-Generation Sequencing
| FRONTIERS IN 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 |
| 2021 | Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease Monitoring | OCULAR IMMUNOLOGY AND INFLAMMATION |
| 2021 | Low CtBP2 expression is associated with a stem cell-like signature and adverse clinical outcome in childhood B-cell lymphoblastic leukemia | LEUKEMIA |
| 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 |
| 2021 | Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome | EPILEPSIA |
| 2021 | Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers
| SCIENTIFIC REPORTS |
| 2021 | DYNC2H1 variants cause Leber congenital amaurosis without syndromic features | CLINICAL GENETICS |
| 2021 | In Silico identification of a common mobile element insertion in exon 4 of RP1
| SCIENTIFIC REPORTS |
| 2021 | Real-world data on the survival outcome of patients with newly diagnosed Waldenström macroglobulinemia
| KOREAN JOURNAL OF INTERNAL MEDICINE |
| 2021 | Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish | HUMAN MOLECULAR GENETICS |
| 2021 | Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
| SCIENTIFIC REPORTS |
| 2021 | Chimerism Assay Using Single Nucleotide Polymorphisms Adjacent and in Linkage-Disequilibrium Enables Sensitive Disease Relapse Monitoring after Hematopoietic Stem-Cell Transplantation | CLINICAL CHEMISTRY |
| 2021 | TUBB3 M323V Syndrome Presents with Infantile Nystagmus
| GENES |
| 2021 | Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study
| SCIENTIFIC REPORTS |
| 2021 | Clinical characteristics of KCNQ2 encephalopathy | BRAIN & DEVELOPMENT |
| 2021 | Corrigendum to 'Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy' [Brain Dev. 42(6) (2020) 438-448] | BRAIN & DEVELOPMENT |
| 2021 | 혈액종양 분야의 차세대염기서열분석법 국내 실태 조사 (2017-2018)
| Laboratory Medicine Online |
| 2021 | 급성백혈병 진단검사 결과보고서의 표준 및 지침: 골수검사, 유세포검사, 세포/분자유전검사
| Laboratory Medicine Online |
| 2020 | Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
| Endocrinology and Metabolism (대한내분비학회지) |
| 2020 | The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome
| NATURE CANCER |
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