| 2019 | A Child With Lymphangioma Due to Somatic Mutation in PIK3CA Successfully Treated With Everolimus | PEDIATRIC NEUROLOGY |
| 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 |
| 2022 | Analysis of trio test in neurodevelopmental disorders
| FRONTIERS IN PEDIATRICS |
| 2017 | BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients | GYNECOLOGIC ONCOLOGY |
| 2021 | Clinical characteristics of KCNQ2 encephalopathy | BRAIN & DEVELOPMENT |
| 2019 | Clinical features and treatment efficacy in cdkl5 mutation-related epileptic encephalopathy in the infant
| Annals of Child Neurology |
| 2020 | Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development | PEDIATRIC NEUROLOGY |
| 2017 | Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients
| CANCER RESEARCH AND TREATMENT |
| 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 |
| 2020 | Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next-generation sequencing approaches | HEMATOLOGICAL ONCOLOGY |
| 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 |
| 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 |
| 2016 | Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 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 |
| 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 | Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer
| CANCER RESEARCH AND TREATMENT |
| 2017 | KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예
| Journal of the Korean Child Neurology Society |
| 2017 | Mowat-Wilson syndrome presenting with fever-associated seizures | EPILEPTIC DISORDERS |
| 2020 | Newborn hereditary elliptocytosis confirmed by familial genetic testing | INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY |
| 2019 | Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities | PEDIATRIC NEUROLOGY |
| 2020 | Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
| FRONTIERS IN NEUROLOGY |
| 2016 | t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2018 | Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
| 2020 | Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy | BRAIN & DEVELOPMENT |
| 2019 | Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neopla는
| PLOS ONE |
| 2018 | The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy
| FRONTIERS IN NEUROLOGY |
| 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 |
| 2019 | Trends in contralateral prophylactic mastectomy rate according to clinicopathologic and socioeconomic status
| ANNALS OF SURGICAL TREATMENT AND RESEARCH |
| 2018 | Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer
| BMC CANCER |
| 2016 | 유전체 의학 시대를 맞이한 유전성 유방암-난소암 증후군 유전 검사의 임상적 함의: 임상의사가 바라본 전망
| Journal of Breast Disease |
| 2022 | 조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고
| Laboratory Medicine Online |
