전북대학교병원 전북권역희귀질환전문기관

Copy number variation analysis using next-generation sequencing identifies the CFHR3/CFHR1 deletion in atypical hemolytic uremic syndrome: a case report. Hematology. 2022 Dec;27(1):603-608.

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1. Genes (Basel). 2022 Aug 17;13(8):1465.

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy. Clin Chim Acta. 2022 Aug 1;533:15-21.

Comparative Evaluation of Three Immunoassays for the Simultaneous Detection of Clostridioides difficile Glutamate Dehydrogenase and Toxin A/B. Microorganisms. 2022 Apr 30;10(5):947.

Analyzing Genetic Differences Between Sporadic Primary and Secondary/Tertiary Hyperparathyroidism by Targeted Next-Generation Panel Sequencing. Endocr Pathol. 2021 Dec;32(4):501-512.

A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review. Genes (Basel). 2021 Sep 7;12(9):1388.

3D Printed Personalized External Aortic Root Model in Marfan Syndrome with Isolated Sinus of Valsalva Aneurysm Caused by a Novel Pathogenic FBN1 p.Gly1127Cys Variant. Diagnostics (Basel). 2021 Jun 8;11(6):1057.

Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review. Genes (Basel). 2021 Jun 29;12(7):1001.

Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients. J Clin Med. 2021 May 10;10(9):2038.

Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression. Diagnostics (Basel). 2021 Mar 1;11(3):416.

Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review. Diagnostics (Basel). 2021 Apr 19;11(4):722.

Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction. Front Pediatr. 2021 Mar 30;9:609389.

A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report. Hematology. 2020 Dec;25(1):321-326.

Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms. Mol Diagn Ther. 2020 Oct;24(5):579-592.

Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy. Clin Chim Acta. 2020 Sep;508:28-32.

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay. Front Pediatr. 2020 Sep 1;8:461.

A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy. Clin Chim Acta. 2020 Jul;506:50-54.

Cytokine clusters as potential diagnostic markers of disease activity and renal involvement in systemic lupus erythematosus. J Int Med Res. 2020 Jun;48(6):0300060520926882.

Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors. J Gastric Cancer. 2020 Mar;20(1):29-40.

Seizure duration may increase thyroid-stimulating hormone levels in children experiencing a seizure. J Int Med Res . 2020 May;48(5):300060519888401.

Clonal Cell Proliferation in Paroxysmal Nocturnal Hemoglobinuria: Evaluation of PIGA Mutations and T-cell Receptor Clonality. Ann Lab Med. 2019 Sep;39(5):438-446.

Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family. Mol Genet Genomic Med. 2019 Sep;7(9):e862.

Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience. Ann Hum Genet. 2019 May;83(3):115-123.

Performance Evaluation of the Beckman Coulter DxN VERIS Hepatitis B Virus (HBV) Assay in Comparison With the Abbott RealTime HBV Assay. Ann Lab Med. 2019 Jan;39(1):86-90.

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability. Front Pediatr. 2018 Dec 17;6:391.

Comparison of Four Automated Carcinoembryonic Antigen Immunoassays: ADVIA Centaur XP, ARCHITECT I2000sr, Elecsys E170, and Unicel Dxi800. Ann Lab Med. 2018 Jul;38(4):355-361.

Determining Genotypic Drug Resistance by Ion Semiconductor Sequencing With the Ion AmpliSeq™ TB Panel in Multidrug-Resistant Mycobacterium tuberculosis Isolates. Ann Lab Med. 2018 Jul;38(4):316-323.

Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing. Pediatr Blood Cancer. 2018 Jul;65(7):e27053.

Molecular drug resistance profiles of Mycobacterium tuberculosis from sputum specimens using ion semiconductor sequencing. J Microbiol Methods. 2018 Feb;145:1-6.

BCR/ABL 음성 골수증식종양 관련 유전자변이 다중검출용 펩티드핵산 프로브, 다중검출 조성물, 다중검출 키트 및 유전자변이 다중검출방법(특허등록 제10-1953092호)