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Center for Integrative Brain Research
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Publications

Dr. Sihoun Hahn has authored more than 80 peer-reviewed research papers, ten book chapters, and nine review articles including the selected publications listed below. To see more of Hahn's publications, view a list on PubMed.

  1. Hahn, S. H., S. Y. Lee, et al. (2002). Pilot study of mass screening for Wilson's disease in Korea. Mol Genet Metab 76 (2): 133-136.
  2. Perri, R. E., S. H. Hahn, et al. (2005). Wilson Disease - keeping the bar for diagnosis raised. Hepatology 42 (4): 974.
  3. Kramer, K. A., D. Oglesbee, et al. (2005). Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts. Clin Chem 51 (11): 2110-2116.
  4. Kroll, C. A., M. J. Ferber, et al. (2006). Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab 89 (1-2): 134-138.
  5. Oglesbee, D., D. Freedenberg, et al. (2006). Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis. Pediatr Neurol 35 (4): 289-292.
  6. Oglesbee, D., M. He, et al. (2007). Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med 9 (2): 108-116.
  7. DeWilde, A., K. Sadilkova, et al. (2008). Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening. Clin Chem 54 (12): 1961-1968.
  8. Bennett C, Chen Y, Hahn S, Glass I, Gospe S. Prevalence of ALDH7A1 mutations in 18 North American pyridoxinedependant seizure (PDS) patients. Epilepsia 2009 May: 50 (5)1167-75
  9. Bachmann-Gagescu R, Merritt JL 2nd, Hahn SH. A cognitively normal PDH deficient 18 year-old male carrying the R263G mutation in the PDHA1 gene. J Inherit Metab Dis. 2009: Dec;32 Suppl 1.
  10. Katerina Sadilkova, Sidney M. Gospe, Jr., Si Houn Hahn. Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine dependent-seizures and folinic acid-responsive seizures. J Neurosci Methods. 2009:184 (1):136-41
  11. Valeria Vasta, Sarah B. Ng, Emily H. Turner, Jay Shendure, Si Houn Hahn. Next Generation Sequence Analysis for Mitochondrial Disorders. Genome Medicine 2009;1 (10):100.
  12. Horslen S and Hahn SH. Genotype Phenotype Correlation in Wilson Disease. Journal of Clin Gastroenterology. 2010;44 (6):387-8
  13. Vasta V, Sedensky M, Morgan P, Hahn SH. Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans. Mitochondrion. 2011:1:136-8
  14. Esparza EM, Golden AS, Hahn SH, Patterson K, Brandling-Bennett HA. Infantile periorificial and intertriginous dermatitis preceding sepsis-like respiratory failure. Pediatric Dermatology 2011 May;28 (3):333-4
  15. Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Sedensky M, Morgan P, Hahn SH. Quality Improvement for Mitochondrial Respiratory Chain Complex Enzyme Assays Using C. elegans. Genetics in Medicine. 2011 Sep;13 (9):794-9. (received editors'comment, AJHG, Sep, 2011: Ensuring a job well done)
  16. Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ. Expanded Molecular Features of Carnitine Acyl-Carnitine Translocase (CACT) Deficiency by Comprehensive Molecular Analysis. Mol Genet Med 2011 Aug;103 (4):349-57
  17. Yang YY, Vasta V, Hahn S, Gangoiti JA, Opheim E, Sedensky MM, Morgan PG. The role of demethoxyubiquinone in the long-lived mutant clk-1. Mech Ageing Dev 2011 Jun-Jul;132 (6-7):331-9
  18. Bennett, J. and S. H. Hahn (2011). Clinical molecular diagnosis of Wilson disease. Semin Liver Dis 31 (3): 233-238.
  19. Hahn, S. H. (2012). Targeted next-generation sequencing expands the spectrum of mitochondrial disorders. Genome Med 4 (3): 22.
  20. Merritt, J. L., 2nd, D. Askenazi, et al. (2012). Newborn screening and renal disease: where we have been; where we are now; where we are going. Pediatr Nephrol 27 (9): 1453-1464.
  21. Vasta V, Merritt JL 2nd, Saneto RP, Hahn SH. Next-generation sequencing for mitochondrial diseases reveals wide diagnostic spectrum. Pediatr Int. 2012 Oct;54 (5):585-601.
  22. Hahn SH, Kerfoot S and Vasta V. Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS. Methods in Molecular Biology 2012:837:169-79
  23. Sandra A. Kerfoot, Sunhee Jung, Karin Golob, Troy R. Torgerson and Si Houn Hahn. Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS. Proteomics Clin. Appl. 2012:6:394-402
  24. Bennett J, Swason P, Schwartz K, and Hahn SH. An exceptional family with three consecutive generations affected by Wilson Disease. Journal of Inherited Metabolic Disorders 2013:10:1-4
  25. Thoene J, Goss T, Witcher M, Mullet J, N'kuli F, Van Der Smissen P, Courtoy P, Hahn SH. In Vitro Correction of Disorders of Lysosomal Transport by Microvesicles Derived from Baculovirus-infected Spodoptera Cells. Mol Genet Metab 2013:109:77-85
  26. Jung S, Tran T, Gospe Jr. S, Hahn SH. Preliminary Investigation of the Use of Newborn Dried Blood Spots for Screening Pyridoxine-Dependent Epilepsy by LC-MS/MS. Molecular Genetics and Metabolism, 2013:110:237-40
  27. Jansen L, Hevner R, Hahn SH, Jung S, Gospe S. Glial Localization of Antiquitin: Implications for Pyridoxine-Dependent Epilepsy. Annals of Neurology 2013 Oct 1
  28. Vasta, V. and S. H. Hahn (2013). Application of Next-generation sequencing of nuclear genes for Mitochondrial disorders. Next Generation Sequencing. L. Wong. New York, Springer: 221-239.
  29. Jeana T DaRe, Valeria Vasta, John Penn, Thao Tran and Sihoun H Hahn. Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. BMC Medical Genetics 2013:14:118
  30. Underhill H, Hale S, Hahn SH, Merritt L. Asymptomatic methylmalonic acidemia in a homozygous mutation (p.P86L). Pediatric Internationals 2013:55:e156-8
  31. Hahn SH. Population screening for Wilson's disease. Ann N Y Acad Sci. 2014 May;1315:64-9.
  32. Bennett JT, Vasta V, Zhang M, Narayanan J, Gerrits P, Hahn SH. Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. Mol Genet Metab. 2015 Mar;114(3):451-8.
  33. Chae JH, Vasta V, Cho A, Lim BC, Zhang Q, Eun SH, Hahn SH. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. J Med Genet. 2015 Mar;52(3):208-16.
  34. Lee JH, van Kuilenburg AB, Abeling NG, Vasta V, Hahn SH. A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly. JIMD Rep. 2015;19:117-21.
  35. Eun SH, Hahn SH. Metabolic evaluation of children with global developmental delay. Korean J Pediatr. 2015 Apr;58(4):117-22.

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