이차곤 교수

논문

• 1. Lee, W.W., C.G. Lee, and C.S. Ki, KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing. Am J Med Genet B Neuropsychiatr Genet, 2024: p. e32984.
  2. Lee, C.G., et al., Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies. Neurol Genet, 2024. 10(1): p. e200116.
  3. Seo, J.Y., et al., Effect of once weekly dulaglutide for juvenile type 2 Diabetes mellitus and obesity in Korea: a Pilot Study. Ann Pediatr Endocrinol Metab, 2023.
  4. Kang, K., C.G. Lee, and B.K. Kim, Intracranial Vessel Wall Magnetic Resonance Imaging of Middle Cerebral Artery Dissection in Neurofibromatosis Type 1. Stroke, 2023. 54(9): p. e419-e420.
  5. Lee, C.G. and C.S. Ki, A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome. Ann Lab Med, 2021. 41(3): p. 350-353.
  6. Lee, W.-W., J.-M. Choi, and C.G. Lee, Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics. J Genet Med, 2020. 17(1): p. 34-38.
  7. Lee, C.G., C.A. Seol, and C.S. Ki, The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant. Am J Med Genet A, 2020. 182(11): p. 2788-2792.
  8. Lee, C.G., et al., PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features. Eur J Med Genet, 2020. 63(4): p. 103781.
  9. Cha Gon Lee, O.K., A novel in-frame mutation at the boundary between exon 21 and intron 21 of SCN4A in a family with paramyotonia congenita. Neurology Asia, 2020. 25(2): p. 207-210.
  10. Lee, D., J.H. Jang, and C.G. Lee, Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys). J Genet Med, 2019. 16(1): p. 27-30.
  11. Lee, C.G., J.H. Jang, and J.Y. Seo, First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln). Ann Pediatr Endocrinol Metab, 2019. 24(4): p. 253-256.
  12. Lee, C.G., J. Lee, and M. Lee, Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. PLoS One, 2018. 13(6): p. e0199321.
  13. Lee, C.G., J. Jang, and H.S. Jin, A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. Mol Med Rep, 2018. 17(6): p. 7611-7617.
  14. Jang, M.J., C.G. Lee, and H.J. Kim, Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea. J Genet Med, 2018. 15(2): p. 110-114.
  15. Hong, S. and C.G. Lee, A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing. J Genet Med, 2018. 15(1): p. 24-27.
  16. Kim, J. and C.G. Lee, Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family. Ann Clin Lab Sci, 2017. 47(2): p. 229-235.
  17. Jin, H.S., et al., Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies. PLoS One, 2017. 12(1): p. e0169226.
  18. Jin, H.S., et al., Correction: Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies. PLoS One, 2017. 12(3): p. e0173757.
  19. Shin, E.H., E. Cho, and C.G. Lee, Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos. Brain Dev, 2016. 38(7): p. 669-73.
  20. Lee, C.G., E. Cho, and Y.M. Ahn, Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication. Eur J Med Genet, 2016. 59(4): p. 210-4.
  21. Choi, J.Y., H.H. Yun, and C.G. Lee, Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea. J Genet Med, 2016. 13(1): p. 20-25.
  22. Lee, C.G., et al., The natural course of clinically isolated syndrome in pediatric patients. Brain Dev, 2015. 37(4): p. 432-8.
  23. Hyohyeon, C. and C.G. Lee, A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings. Am J Med Genet A, 2015. 167a(1): p. 198-203.
  24. Choi, J., H. Lee, and C.G. Lee, Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation. Am J Med Genet A, 2015. 167a(8): p. 1859-64.
  25. Lee, C.G., et al., Clinical outcome of acute necrotizing encephalopathy in related to involving the brain stem of single institution in Korea. Korean J Pediatr, 2014. 57(6): p. 264-270.
  26. Yu, H.J., et al., Clinical and ictal characteristics of infantile seizures: EEG correlation via long-term video EEG monitoring. Brain Dev, 2013. 35(8): p. 771-7.
  27. Sohn, Y.B., et al., Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. J Hum Genet, 2013. 58(2): p. 73-7.
  28. Lee, C.G., et al., Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH. J Genet Med, 2013. 10(1): p. 52-56.
  29. Lee, C.G., et al., Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study. Yonsei Med J, 2013. 54(6): p. 1463-1470.
  30. Lee, C.G., et al., Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. Brain Dev, 2013. 35(7): p. 681-5.
  31. Lee, C.G., et al., Clinical features and genetic analysis of children with hyperekplexia in Korea. J Child Neurol, 2013. 28(1): p. 90-4.
  32. Nam, S.H., et al., Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. Ann Clin Lab Sci, 2012. 42(1): p. 65-72.
  33. Lee, C.G., et al., Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome. J Korean Med Sci, 2012. 27(12): p. 1586-1590.
  34. Kim, J.Y., et al., The efficacy and tolerability of rufinamide in intractable pediatric epilepsy. J Epilepsy Res, 2012. 2(2): p. 33-7.
  35. Yu, H.J., et al., Clinical Manifestations of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Patients. J Korean Epilepsy Soc, 2011. 15(1): p. 24-30.
  36. Yoo, H.S., et al., Pulmonary Hypertension Secondary to Bronchopulmonary Dysplasia in Very Low Birth Weight Infants (<1,500 g). J Korean Soc Neonatol, 2011. 18(1): p. 96-103.
  37. Nam, S.H., et al., The role of ketogenic diet in the treatment of refractory status epilepticus. Epilepsia, 2011. 52(11): p. e181-4.
  38. Lee, O.J., et al., Successful Desensitization of Oxcarbazepine: First Case in Pediatric Patient. J Korean Child Neurol Soc, 2011. 19(3): p. 262-265.
  39. Kim, H.S., et al., Early Diagnosis of Perinatal Ischemic Stroke Based on Clinical and Radiological Characteristics. J Korean Child Neurol Soc, 2011. 19(2): p. 131-141.
  40. Lee, C.G., et al., Brain abscess in Korean children: A 15-year single center study. Korean J Pediatr, 2010. 53(5): p. 648-652.
  41. Lee, C.G., et al., Surgical outcome of severe pulmonary arterial hypertension secondary to left-to-right shunt lesions. Korean J Pediatr, 2010. 53(2): p. 195-202.
  42. Kim, M.J., et al., A case of pulmonary vascular air embolism in a very-low-birth-weight infant with massive hydrops. Korean J Pediatr, 2009. 52(12): p. 1392-1395.