| 2001 | A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition
| YONSEI MEDICAL JOURNAL |
| 2007 | A der(1;15)(q10;q10) is a rare nonrandom whole-arm translocation in patients with acute lymphoblastic leukemia | CANCER GENETICS AND CYTOGENETICS |
| 2013 | A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis | BLOOD COAGULATION & FIBRINOLYSIS |
| 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 |
| 2010 | An SRY-deleted XXY female resulting from a paternally inherited t(Y;22) | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2022 | Analysis of trio test in neurodevelopmental disorders
| FRONTIERS IN PEDIATRICS |
| 2009 | BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia. | CANCER GENETICS AND CYTOGENETICS |
| 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 |
| 2024 | Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes
| CANCER CELL INTERNATIONAL |
| 2009 | De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
| Korean Journal of Pediatrics |
| 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 |
| 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 |
| 2021 | Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome | EPILEPSIA |
| 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 |
| 2010 | Identification of adenovirus, influenza virus, parainfluenza virus, and respiratory syncytial virus by two kinds of multiplex polymerase chain reaction (PCR) and a shell vial culture in pediatric patients with viral pneumonia
| YONSEI MEDICAL JOURNAL |
| 2021 | Impact of maternal engrafted cytomegalovirus-specific CD8 + T cells in a patient with severe combined immunodeficiency
| CLINICAL & TRANSLATIONAL IMMUNOLOGY |
| 2015 | Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots
| ANNALS OF LABORATORY MEDICINE |
| 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 |
| 2011 | Pharmacokinetic comparison of sustained- and immediate-release oral formulations of cilostazol in healthy Korean subjects: a randomized, open-label, 3-part, sequential, 2-period, crossover, single-dose, food-effect, and multiple-dose study | CLINICAL THERAPEUTICS |
| 2012 | Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. | CLINICAL GENETICS |
| 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 |
| 2020 | The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy | EPILEPTIC DISORDERS |
| 2010 | Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23). | CANCER GENETICS AND CYTOGENETICS |
| 2024 | Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights
| FRONTIERS IN ONCOLOGY |
| 2024 | 저신장 환아에서 발견한 TRAPPC2 유전자 돌연변이의 기능 검사를 통한 해석 1예 보고
| Laboratory Medicine Online |
| 2022 | 조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고
| Laboratory Medicine Online |
| 2015 | 천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예
| ALLERGY ASTHMA & RESPIRATORY DISEASE |
