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Si Houn Hahn

Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry
2004 · Jean M Lacey, Carla Z Minutti, et al. · Clinical Chemistry · 217
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Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein
2004 · Valeria Tiranti, Pio D’Adamo, et al. · The American Journal of Human Genetics · 205
Connexin26 Mutations Associated With Nonsyndromic Hearing Loss
2000 · Hong‐Joon Park, Si Houn Hahn, et al. · The Laryngoscope · 199
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Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia
2004 · Carla Z. Minutti, Jean M. Lacey, et al. · The Journal of Clinical Endocrinology & Metabolism · 154
The genetics of Wilson disease
2017 · Irene J. Chang, Si Houn Hahn · Handbook of clinical neurology · 151
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
2015 · Jong Hee Chae, Valeria Vasta, et al. · Journal of Medical Genetics · 120
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Next generation sequence analysis for mitochondrial disorders
2009 · Valeria Vasta, Sarah B Ng, et al. · Genome Medicine · 114
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Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
1998 · Eun Kyung Kim, Ook Joon Yoo, et al. · Human Mutation · 103
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Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography–Tandem Mass Spectrometry: Application to Newborn Screening
2008 · Amy deWilde, Katerina Sadilkova, et al. · Clinical Chemistry · 94
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease
2021 · Christopher J. Collins, Fan Yi, et al. · Gastroenterology · 87
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report
2005 · Hye-Ran Yoon, Hye-Ran Yoon, et al. · Clinica Chimica Acta · 81
Next‐generation sequencing for mitochondrial diseases: A wide diagnostic spectrum
2012 · Valeria Vasta, J Lawrence Merritt II, et al. · Pediatrics International · 68
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I
2006 · Mark J. Magera, Nishantha D. Gunawardena, et al. · Molecular Genetics and Metabolism · 67
Pilot study of mass screening for Wilson's disease in Korea
2002 · Si Houn Hahn, Soo Young Lee, et al. · Molecular Genetics and Metabolism · 63
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity
2013 · Jeana T DaRe, Valeria Vasta, et al. · BMC Medical Genetics · 61
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Automated Spectrophotometric Analysis of Mitochondrial Respiratory Chain Complex Enzyme Activities in Cultured Skin Fibroblasts
2005 · Karen A Kramer, Devin Oglesbee, et al. · Clinical Chemistry · 60
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Clinical Molecular Diagnosis of Wilson Disease
2011 · James Bennett, Si Hahn · Seminars in Liver Disease · 59
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
2009 · Katerina Sadilkova, Sidney M. Gospe, et al. · Journal of Neuroscience Methods · 59
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report
2022 · Priya S. Kishnani, David Kronn, et al. · Genetics in Medicine · 55
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Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson’s Disease
2016 · Sunhee Jung, Jeffrey R. Whiteaker, et al. · Journal of Proteome Research · 55
Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy
2013 · Laura A. Jansen, Robert F. Hevner, et al. · Annals of Neurology · 55
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
2007 · Devin Oglesbee, Miao He, et al. · Genetics in Medicine · 53
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene
2004 · J.T McKinney, N Longo, et al. · Molecular Genetics and Metabolism · 52
Population screening for Wilson's disease
2014 · Si Houn Hahn · Annals of the New York Academy of Sciences · 48
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism
2014 · James T. Bennett, Valeria Vasta, et al. · Molecular Genetics and Metabolism · 40
Works count: 102
Citation count: 3,182
H-index: 32
I10-index: 62
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