| 2020 | Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
| Endocrinology and Metabolism (대한내분비학회지) |
| 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 | 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 | 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 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 |
| 2019 | The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
| BMC MEDICAL GENETICS |
| 2019 | Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies | JOURNAL OF MOLECULAR DIAGNOSTICS |
| 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 |
| 2018 | Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' Exons | Anticancer Research |
| 2018 | Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단
| Journal of the Korean Child Neurology Society |
| 2018 | SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation. | ANNALS OF HEMATOLOGY |
| 2018 | Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development.
| ANNALS OF LABORATORY MEDICINE |
| 2018 | A patient with B-cell acute lymphoblastic leukemia with PAX5-ETV6 rearrangement with dic(9;12)(p13;p13) identified by chromosomal microarray. | ANNALS OF HEMATOLOGY |
| 2018 | Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers. | CLINICAL BREAST CANCER |
| 2018 | The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy
| FRONTIERS IN NEUROLOGY |
| 2018 | Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
| 2018 | Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
| BMC MEDICAL GENOMICS |
| 2018 | Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer
| BMC CANCER |
| 2018 | Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population
| ANNALS OF LABORATORY MEDICINE |
| 2018 | Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
| JOURNAL OF CLINICAL NEUROLOGY |
| 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 |
| 2017 | Mowat-Wilson syndrome presenting with fever-associated seizures | EPILEPTIC DISORDERS |
| 2017 | Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome | JAMA OPHTHALMOLOGY |
| 2017 | Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
| MOLECULAR VISION |
http://orcid.org/0000-0003-1047-1415
(22135530900)
