| 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 | 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 |
| 2020 | SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization
| HUMAN MOLECULAR GENETICS |
| 2020 | Fusobacterium nucleatum in biopsied tissues from colorectal cancer patients and alcohol consumption in Korea
| SCIENTIFIC REPORTS |
| 2020 | Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy | CLINICA CHIMICA ACTA |
| 2020 | The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy | EPILEPTIC DISORDERS |
| 2020 | Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma
| HAEMATOLOGICA |
| 2020 | Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea
| ANNALS OF LABORATORY MEDICINE |
| 2020 | Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study
| SCIENTIFIC REPORTS |
| 2020 | Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
| SCIENTIFIC REPORTS |
| 2020 | Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern | EPILEPSY RESEARCH |
| 2020 | Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy | BRAIN & DEVELOPMENT |
| 2020 | Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
| FRONTIERS IN NEUROLOGY |
| 2020 | Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy
| FRONTIERS IN PHARMACOLOGY |
| 2020 | Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis
| MOLECULAR VISION |
| 2020 | Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next-generation sequencing approaches | HEMATOLOGICAL ONCOLOGY |
| 2020 | Newborn hereditary elliptocytosis confirmed by familial genetic testing | INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY |
| 2020 | Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development | PEDIATRIC NEUROLOGY |
| 2019 | Clinical features and treatment efficacy in cdkl5 mutation-related epileptic encephalopathy in the infant
| Annals of Child Neurology |
| 2019 | Clinical Significance of Revised Banff Criteria in the Diagnosis of Antibody-Mediated Rejection
| TRANSPLANTATION PROCEEDINGS |
| 2019 | Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome
| JAMA OPHTHALMOLOGY |
| 2019 | Trends in contralateral prophylactic mastectomy rate according to clinicopathologic and socioeconomic status
| ANNALS OF SURGICAL TREATMENT AND RESEARCH |
| 2019 | Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia | LEUKEMIA & LYMPHOMA |
| 2019 | Mutant Thr95Ile Transthyretin-Related Cardiac Amyloidosis With Polyneuropathy
| CIRCULATION JOURNAL |
| 2019 | Genetic and clinical features of SCN8A developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
| 2019 | Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities | PEDIATRIC NEUROLOGY |
| 2019 | Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome | Ophthalmic Genetics |
| 2019 | 진단상의 어려움: 전신성 자가면역 질환의 증상을 모방하는 원발성 골수 광범위큰B세포림프종 진단
| Laboratory Medicine Online |
| 2019 | Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
| Scientific Reports |
| 2019 | A Somatic p.Phe29del Mutation of Connexin 26 (GJB2) Manifesting as Acantholytic Dyskeratotic Epidermal Nevus | JAMA Dermatology |
| 2019 | Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
| BMC Medical Genomics |
| 2019 | Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy
| PLoS One |
| 2019 | A Child With Lymphangioma Due to Somatic Mutation in PIK3CA Successfully Treated With Everolimus | PEDIATRIC NEUROLOGY |
| 2019 | Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neopla는
| PLOS ONE |
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