2015 | First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome
| ANNALS OF LABORATORY MEDICINE |
2023 | FLT3-ITD 검사의 국내 현황 조사(2021)
| Laboratory Medicine Online |
2020 | Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M Mutation
| JOURNAL OF CANCER |
2020 | Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
| Endocrinology and Metabolism (대한내분비학회지) |
2023 | Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
| FRONTIERS IN IMMUNOLOGY |
2022 | Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy
| FRONTIERS IN NEUROLOGY |
2020 | Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)
| JOURNAL OF CLINICAL NEUROLOGY |
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 |
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 |
2023 | Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian Cancer | CLINICAL CANCER RESEARCH |
2015 | Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots
| ANNALS OF LABORATORY MEDICINE |
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 |
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 |
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 |
2016 | PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
| ANNALS OF LABORATORY MEDICINE |
2023 | RAB29-NUCKS1 유전자재배열을 동반한 공격성NK세포백혈병: 증례보고
| Laboratory Medicine Online |
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 | 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 | Recommendations for the Verification of Quantitative Molecular Hemato-Oncology Tests
| Laboratory Medicine Online |
2015 | Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder
| ANNALS OF LABORATORY MEDICINE |
2022 | Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer
| Laboratory Medicine Online |
2019 | Selecting short length nucleic acids localized in exosomes improves plasma EGFR mutation detection in NSCLC patients
| Cancer Cell International |
2024 | 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 |
2021 | Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease Monitoring | OCULAR IMMUNOLOGY AND INFLAMMATION |
2016 | t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
2020 | Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy | BRAIN & DEVELOPMENT |
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 | Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia
| JOURNAL OF CANCER |
2023 | 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 |
2017 | Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing
| ONCOTARGET |
2022 | 순환종양핵산 검사의 임상 적용
| Laboratory Medicine Online |
2022 | 유전성 암 유전자에서 검출된 염기 변이의 해석을 위한 기능 연구 근거의 적용
| Laboratory Medicine Online |
2022 | 조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고
| Laboratory Medicine Online |
2022 | 체액세포분석 수기검사: 국내 실태조사 및 임상검사실 지침(2021)
| Laboratory Medicine Online |
2015 | 치료적 혈장교환술에 사용하는 치환용액의 선택과 주의사항
| Korean Journal of Blood Transfusion (대한수혈학회지) |