Sihoun Hahn
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited
- → A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening(2004)166 cited
- → Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities(2014)89 cited
- → Prevalence of ALDH7A1 mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients(2008)77 cited
- → The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I(2004)61 cited
- → Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis(2011)32 cited
- → The role of DMQ9 in the long-lived mutant clk-1(2011)27 cited
- → Tutorial: Triheptanoin and Nutrition Management for Treatment of Long‐Chain Fatty Acid Oxidation Disorders(2020)17 cited
- → Identification of Four Novel Mutations in Classical Menkes Disease and Successful Prenatal DNA Diagnosis(2001)16 cited
- → Mutation Analysis of Korean Patients with Citrullinemia(2000)14 cited