Sirisak Chanprasert
Pacific Northwest Diabetes Research Institute(US)Baylor College of Medicine(US)University of Washington(US)University of Washington Medical Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, RNA Research and Splicing
Most-Cited Works
- → WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects(2016)94 cited
- → Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation(2016)82 cited
- → De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation(2020)69 cited
- → Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder(2020)59 cited
- → Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome(2014)50 cited
- → Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene(2013)47 cited