Si Houn Hahn

Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry

Jean M. Lacey, Carla Minutti, Mark J Magera et al. · Clinical Chemistry · 2004 · 215 citations · Full text

Life Sciences, Endocrinology, Pediatrics +17

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Valeria Tiranti, Pio D’Adamo, Egill Briem et al. · The American Journal of Human Genetics · 2004 · 203 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Connexin26 Mutations Associated With Nonsyndromic Hearing Loss

Hong‐Joon Park, Si Houn Hahn, Young‐Myoung Chun et al. · The Laryngoscope · 2000 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

Carla Minutti, Jean M. Lacey, Mark J Magera et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 153 citations

Medicine, Endocrinology, Pediatrics +17

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

Jong‐Hee Chae, Valeria Vasta, Anna Cho et al. · Journal of Medical Genetics · 2015 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15