All Stories

  1. Refining Dynamic Risk Stratification and Prognostic Groups for Differentiated Thyroid Cancer With TERT Promoter Mutations

    Article • The Journal of Clinical Endocrinology & Metabolism, February 2017, Endocrine Society

    Dr Chang-Seok Ki

  2. Performance Evaluation of Allplex Respiratory Panels 1, 2, and 3 for Detection of Respiratory Viruses and Influenza A Virus Subtypes

    Article • Journal of Clinical Microbiology, November 2016, ASM Journals

    Dr Chang-Seok Ki

  3. De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis

    Article • Neurobiology of Aging, March 2015, Elsevier

    Dr Chang-Seok Ki

  4. Comparison of the Genedia MTB Detection Kit and the Cobas TaqMan MTB Assay for Detection of Mycobacterium tuberculosis in Respiratory Specimens

    Article • Journal of Clinical Microbiology, January 2015, ASM Journals

    Dr Chang-Seok Ki

  5. Evaluation of the iNtRON VRE vanA/vanB Real-Time PCR Assay for Detection of Vancomycin-Resistant Enterococci

    Article • Annals of Laboratory Medicine, January 2015, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  6. Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease

    Article • BMC Medical Genetics, December 2014, Springer Science + Business Media

    Dr Chang-Seok Ki

  7. Evaluation of the Cobas TaqMan MTB Test for the Detection of Mycobacterium tuberculosis Complex According to Acid-Fast-Bacillus Smear Grades in Respiratory Specimens

    Article • Journal of Clinical Microbiology, November 2014, ASM Journals

    Dr Chang-Seok Ki

  8. Performance evaluation of the Xpert MTB/RIF assay according to its clinical application

    Article • BMC Infectious Diseases, November 2014, Springer Science + Business Media

    Dr Chang-Seok Ki

  9. Evaluation of the illumigene C. difficile assay for toxigenic Clostridium difficile detection: a prospective study of 302 consecutive clinical fecal samples

    Article • Diagnostic Microbiology and Infectious Disease, November 2014, Elsevier

    Dr Chang-Seok Ki

  10. Evaluation of Performance of the Real-Q NTM-ID Kit for Rapid Identification of Eight Nontuberculous Mycobacterial Species

    Article • Journal of Clinical Microbiology, August 2014, ASM Journals

    Dr Chang-Seok Ki

  11. Comparison of the AnyplexTM II RV16 and Seeplex® RV12 ACE assays for the detection of respiratory viruses

    Article • Diagnostic Microbiology and Infectious Disease, August 2014, Elsevier

    Dr Chang-Seok Ki

  12. Distribution of Nontuberculous Mycobacteria by Multigene Sequence-Based Typing and Clinical Significance of Isolated Strains

    Article • Journal of Clinical Microbiology, February 2014, ASM Journals

    Dr Chang-Seok Ki

  13. Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene

    Article • Annals of Laboratory Medicine, January 2014, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  14. Comparison of the Digene HPV Genotyping LQ Test and the PANArray HPV Genotyping Chip for Detection of High-Risk or Probable High-Risk Human Papillomavirus Genotypes

    Article • Annals of Laboratory Medicine, January 2014, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  15. Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing

    Article • Annals of Laboratory Medicine, January 2014, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  16. Clinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Proline-Rich Transmembrane Protein 2 Gene Mutation

    Article • Journal of Clinical Neurology, January 2014, Korean Neurological Association (KAMJE)

    Dr Chang-Seok Ki

  17. Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing

    Article • Annals of Laboratory Medicine, January 2014, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  18. A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation

    Article • Pflügers Archiv - European Journal of Physiology, August 2013, Springer Science + Business Media

    Dr Chang-Seok Ki

  19. Comparison of the Xpert MTB/RIF and Cobas TaqMan MTB Assays for Detection of Mycobacterium tuberculosis in Respiratory Specimens

    Article • Journal of Clinical Microbiology, July 2013, ASM Journals

    Dr Chang-Seok Ki

  20. Identification of DCX Gene Mutation in Lissencephaly Spectrum With Subcortical Band Heterotopia Using Whole Exome Sequencing

    Article • Pediatric Neurology, May 2013, Elsevier

    Dr Chang-Seok Ki

  21. Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis

    Article • Journal of Human Genetics, March 2013, Springer Science + Business Media

    Dr Chang-Seok Ki

  22. The proportion of uniparental disomy is increased in Prader–Willi syndrome due to an advanced maternal childbearing age in Korea

    Article • Journal of Human Genetics, January 2013, Springer Science + Business Media

    Dr Chang-Seok Ki

  23. Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia

    Article • Annals of Laboratory Medicine, January 2013, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  24. Novel c.300_301delinsT Mutation inPITX2in a Korean Family with Axenfeld-Rieger Syndrome

    Article • Annals of Laboratory Medicine, January 2013, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  25. A Novel UMOD Mutation (c.187T>C) in a Korean Family with Juvenile Hyperuricemic Nephropathy

    Article • Annals of Laboratory Medicine, January 2013, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  26. Evaluation of the Xpert Flu for the Detection of Influenza A Virus and Influenza A/H1N1/2009 Strain

    Article • Annals of Clinical Microbiology, January 2013, The Korean Society of Clinical Microbiology (KAMJE)

    Dr Chang-Seok Ki

  27. Clinical Implication of Highly Sensitive Detection of theBRAFV600E Mutation in Fine-Needle Aspirations of Thyroid Nodules: A Comparative Analysis of Three Molecular Assays in 4585 Consecutive Cases in aBRAFV600E Mutation-Prevalent Area

    Article • The Journal of Clinical Endocrinology & Metabolism, July 2012, Endocrine Society

    Dr Chang-Seok Ki

  28. Erratum: Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome

    Article • Journal of Human Genetics, June 2012, Springer Science + Business Media

    Dr Chang-Seok Ki

  29. Identification of TSC1 and TSC2 Mutations in Korean Patients With Tuberous Sclerosis Complex

    Article • Pediatric Neurology, April 2012, Elsevier

    Dr Chang-Seok Ki

  30. Respiratory viral infections during the first 28 days after transplantation in pediatric hematopoietic stem cell transplant recipients

    Article • Clinical Transplantation, March 2012, Wiley

    Dr Chang-Seok Ki

  31. Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea

    Article • Annals of Laboratory Medicine, January 2012, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  32. Identification of Clinical Mold Isolates by Sequence Analysis of the Internal Transcribed Spacer Region, Ribosomal Large-Subunit D1/D2, and β-Tubulin

    Article • Annals of Laboratory Medicine, January 2012, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  33. Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

    Article • Journal of Human Genetics, December 2011, Springer Science + Business Media

    Dr Chang-Seok Ki

  34. SCN1A mutational analysis in Korean patients with Dravet syndrome

    Article • Seizure, December 2011, Elsevier

    Dr Chang-Seok Ki

  35. Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome

    Article • Journal of Human Genetics, November 2011, Springer Science + Business Media

    Dr Chang-Seok Ki

  36. Mutant Enrichment with 3′-Modified Oligonucleotides

    Article • Journal of Molecular Diagnostics, November 2011, Elsevier

    Dr Chang-Seok Ki

  37. Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism

    Article • Clinical Endocrinology, October 2011, Wiley

    Dr Chang-Seok Ki

  38. PHOX2B mutations in patients with Ondine–Hirschsprung disease and a review of the literature

    Article • European Journal of Pediatrics, March 2011, Springer Science + Business Media

    Dr Chang-Seok Ki

  39. Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis

    Article • The Korean Journal of Laboratory Medicine, January 2011, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  40. Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy

    Article • Journal of Korean Medical Science, January 2011, Korean Academy of Medical Sciences (KAMJE)

    Dr Chang-Seok Ki

  41. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea

    Article • Neuromuscular Disorders, August 2010, Elsevier

    Dr Chang-Seok Ki

  42. A Case of Antenatal Bartter Syndrome with Sensorineural Deafness

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2010, De Gruyter

    Dr Chang-Seok Ki

  43. The Common NF-κB Essential Modulator ( NEMO ) Gene Rearrangement in Korean Patients with Incontinentia Pigmenti

    Article • Journal of Korean Medical Science, January 2010, Korean Academy of Medical Sciences (KAMJE)

    Dr Chang-Seok Ki

  44. A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis

    Article • Journal of Korean Medical Science, January 2010, Korean Academy of Medical Sciences (KAMJE)

    Dr Chang-Seok Ki

  45. Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis

    Article • Muscle & Nerve, July 2009, Wiley

    Dr Chang-Seok Ki

  46. Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy

    Article • Journal of the Neurological Sciences, June 2009, Elsevier

    Dr Chang-Seok Ki

  47. Clinical Features and Mutations in the ENG, ACVRL1, and SMAD4 genes in Korean Patients with Hereditary Hemorrhagic Telangiectasia

    Article • Journal of Korean Medical Science, January 2009, Korean Academy of Medical Sciences (KAMJE)

    Dr Chang-Seok Ki

  48. A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy

    Article • Muscle & Nerve, October 2008, Wiley

    Dr Chang-Seok Ki

  49. Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations

    Article • Journal of the Neurological Sciences, April 2008, Elsevier

    Dr Chang-Seok Ki

  50. Identification of a de novo Lys304Gln mutation in the glycine receptor α-1 subunit gene in a Korean infant with hyperekplexia

    Article • Movement Disorders, March 2008, Wiley

    Dr Chang-Seok Ki

  51. A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections

    Article • Heart and Vessels, March 2008, Springer Science + Business Media

    Dr Chang-Seok Ki

  52. Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria

    Article • Experimental & Molecular Medicine, January 2008, Springer Science + Business Media

    Dr Chang-Seok Ki

  53. Identification of PSEN1 and APP Gene Mutations in Korean Patients with Early-Onset Alzheimer's Disease

    Article • Journal of Korean Medical Science, January 2008, Korean Academy of Medical Sciences (KAMJE)

    Dr Chang-Seok Ki

  54. Clinical and Genetic Analysis of Korean Patients with Facioscapulohumeral Muscular Dystrophy

    Article • Journal of Korean Medical Science, January 2008, Korean Academy of Medical Sciences (KAMJE)

    Dr Chang-Seok Ki

  55. Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia

    Article • Molecular Genetics and Metabolism, September 2007, Elsevier

    Dr Chang-Seok Ki

  56. A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease

    Article • Journal of the Neurological Sciences, September 2007, Elsevier

    Dr Chang-Seok Ki

  57. Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome

    Article • Journal of Human Genetics, July 2007, Springer Science + Business Media

    Dr Chang-Seok Ki

  58. Identification of de novoBSCL2 Ser90Leu mutation in a Korean family with silver syndrome and distal hereditary motor neuropathy

    Article • Muscle & Nerve, January 2007, Wiley

    Dr Chang-Seok Ki

  59. Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy

    Article • Journal of Clinical Neuroscience, January 2007, Elsevier

    Dr Chang-Seok Ki

  60. Comparison of Two New Plastic Tubes (Sekisui INSEPACK and Green Cross Green Vac-Tube) with BD Vacutainer Tubes for 49 Analytes

    Article • The Korean Journal of Laboratory Medicine, January 2007, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  61. Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2

    Article • Journal of Human Genetics, September 2006, Springer Science + Business Media

    Dr Chang-Seok Ki

  62. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

    Article • Journal of Human Genetics, August 2006, Springer Science + Business Media

    Dr Chang-Seok Ki

  63. Clinical Features and Gene Analysis in Korean Patients With Early-Onset Parkinson Disease

    Article • Archives of Neurology, August 2006, American Medical Association (AMA)

    Dr Chang-Seok Ki

  64. A Korean Family with Wilson Disease Occurred in Two Consecutive Generations

    Article • The Korean Journal of Laboratory Medicine, January 2006, Korean Society for Laboratory Medicine (KAMJE)

    Dr Chang-Seok Ki

  65. Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene

    Article • Journal of Korean Medical Science, January 2006, Korean Academy of Medical Sciences (KAMJE)

    Dr Chang-Seok Ki

  66. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

    Article • Journal of Human Genetics, December 2005, Springer Science + Business Media

    Dr Chang-Seok Ki

  67. Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome

    Article • International Journal of Pediatric Otorhinolaryngology, August 2005, Elsevier

    Dr Chang-Seok Ki

  68. Mutation Analysis of SPG4 and SPG3A Genes and Its Implication in Molecular Diagnosis of Korean Patients With Hereditary Spastic Paraplegia

    Article • Archives of Neurology, July 2005, American Medical Association (AMA)

    Dr Chang-Seok Ki

  69. Incidence and clinical significance of human parvovirus B19 infection in kidney transplant recipients

    Article • Clinical Transplantation, June 2005, Wiley

    Dr Chang-Seok Ki

  70. A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b

    Article • Journal of Korean Medical Science, January 2005, Korean Academy of Medical Sciences (KAMJE)

    Dr Chang-Seok Ki

  71. Two Novel Mutations in the C7 gene in a Korean Patient with Complement C7 Deficiency

    Article • Journal of Korean Medical Science, January 2005, Korean Academy of Medical Sciences (KAMJE)

    Dr Chang-Seok Ki

  72. A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

    Article • Neuromuscular Disorders, May 2004, Elsevier

    Dr Chang-Seok Ki

  73. Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's disease

    Article • Neuroscience Letters, February 2002, Elsevier

    Dr Chang-Seok Ki

  74. Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease

    Article • Neuroscience Letters, April 2001, Elsevier

    Dr Chang-Seok Ki

  75. Lack of association of the interleukin-1? gene polymorphism with Alzheimer's disease in a Korean population

    Article • Annals of Neurology, January 2001, Wiley

    Dr Chang-Seok Ki

  76. No association between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease

    Article • American Journal of Medical Genetics, April 1999, Wiley

    Dr Chang-Seok Ki