2022 | Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer
| Laboratory Medicine Online |
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 |
2018 | SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation. | ANNALS OF HEMATOLOGY |
2019 | Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy
| PLoS One |
2013 | Study of peripheral BRAFV600E mutation as a possible novel marker for papillary thyroid carcinomas | HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK |
2012 | Submicroscopic deletion of FGFR1 gene is recurrently detected in myeloid and lymphoid neoplasms associated with ZMYM2-FGFR1 rearrangements: a case study | ACTA HAEMATOLOGICA |
2016 | Survey of Clinical Laboratory Practices for 2015 Middle East Respiratory Syndrome Coronavirus Outbreak in the Republic of Korea
| ANNALS OF LABORATORY MEDICINE |
2019 | Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
| Scientific Reports |
2016 | t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
2007 | t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma | CANCER GENETICS AND CYTOGENETICS |
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 |
2017 | Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatment | PSYCHONEUROENDOCRINOLOGY |
2009 | The clopidogrel resistance can be attenuated with triple antiplatelet therapy in patients undergoing drug-eluting stents implantation | INTERNATIONAL JOURNAL OF CARDIOLOGY |
2017 | The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma
| SCIENTIFIC REPORTS |
2018 | The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy
| FRONTIERS IN NEUROLOGY |
2009 | The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
| JOURNAL OF KOREAN MEDICAL SCIENCE |
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 |
2013 | The MLL recombinome of acute leukemias in 2013
| LEUKEMIA |
2020 | The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy | EPILEPTIC DISORDERS |
2009 | The relationship between COL3A1 exon 31 polymorphism and pelvic organ prolapse. | JOURNAL OF UROLOGY |
2009 | The role of BRAFV600E mutation and ultrasonography for the surgical management of a thyroid nodule suspicious for papillary thyroid carcinoma on cytology | ANNALS OF SURGICAL ONCOLOGY |
2021 | The Role of Ion Channel-Related Genes in Autism Spectrum Disorder: A Study Using Next-Generation Sequencing
| FRONTIERS IN GENETICS |
2019 | The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
| BMC MEDICAL GENETICS |
2009 | Therapy-related acute lymphoblastic leukemia with t(9;22)(q34;q11.2):a case study and review of the literature | CANCER GENETICS AND CYTOGENETICS |
2009 | Therapy-related myelodysplastic syndrome with der(17)t(12;17)(q13;p13) as a new recurrent cytogenetic abnormality after treatment for chronic lymphocytic leukemia | LEUKEMIA RESEARCH |
2009 | Therapy-related myelodysplastic syndrome/acute myeloid leukemia after treatment with temozolomide in a patient with glioblastoma multiforme. | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
2009 | Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer | CANCER GENETICS AND CYTOGENETICS |
2009 | Three-way Philadelphia variant t(9;22;14)(q34;q11.2;p11) in chronic myeloid leukemia. | CANCER GENETICS AND CYTOGENETICS |
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 |
2000 | Tissue plasminogen activator and plasminogen activator inhibitor-1 in human choledochal bile
| Yonsei Medical Journal |
2022 | Trajectory of genetic alterations associated with colistin resistance in Acinetobacter baumannii during an in-hospital outbreak of infection | JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY |
2008 | Trisomy 8 in an elderly patient with acute lymphoblastic leukemia as a sole abnormality | CANCER GENETICS AND CYTOGENETICS |
2009 | Two case reports of 1q triplication in myeloproliferative neoplasms. | CANCER GENETICS AND CYTOGENETICS |
2010 | Two childhood cases of acute leukemia with t(16;21)(p11.2;q22): second case report of infantile acute lymphoblastic leukemia with unusual type of FUS-ERG chimeric transcript | CANCER GENETICS AND CYTOGENETICS |
2024 | Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights
| FRONTIERS IN ONCOLOGY |
2017 | Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing
| ONCOTARGET |
1999 | von Willebrand disease with G4022A mutation (vWd Sungnam): a case report
| Journal of Korean Medical Science |
2020 | Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma
| HAEMATOLOGICA |
2017 | Whole genome and transcriptome analysis reveal MALDI-TOF MS and SDS-PAGE have limited performance for the detection of the key outer membrane protein in carbapenem-resistant Klebsiella pneumoniae isolates
| ONCOTARGET |
1998 | 골수이형성 증후군과 Epstein-Barr Virus 및 Human Parvovirus B19 감염의 관련성 검토
| Korean Journal of Clinical Pathology (대한임상병리학회지) |
2008 | 듀센형근이영양증 유전자의 결실 돌연변이 검출을 위한 Dual Priming Oligonucleotide 다중 PCR법의 평가
| KOREAN JOURNAL OF LABORATORY MEDICINE |
1997 | 산전 태아 이상 선별 검사인 Triple Marker의 유용성 | Korean Journal of Clinical Pathology (대한임상병리학회지) |
1998 | 상대적 게놈 보합법(Comparative Genomic Hybridization, CGH)으로 확인된 1번 염색체 장완부 일부에서 중복 및 삼중복 염색체 이상을 보인 골수 이형성 증후군 1례
| Korean Journal of Hematology (대한혈액학회지) |
2007 | 자동혈구분석기 Cell-Dyn Sapphire의 평가
| KOREAN JOURNAL OF LABORATORY MEDICINE |
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 |
1996 | 한국인 듀센형 근디스트로피 가계에서의 보인지 진단을 위한 DNA 제한효소 단편 장다형에 관한 연구
| Korean Journal of Clinical Pathology(대한임상병리학회지) |