Casper Shyr
Fraser Health(CA)University of Victoria(CA)BC Children's Hospital(CA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genetic Associations and Epidemiology, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles(2015)1,056 cited
- → JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles(2013)1,027 cited
- → Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysis(2010)774 cited
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → A novel recurrent mutation in ATP1A3 causes CAPOS syndrome(2014)190 cited
- → FLAGS, frequently mutated genes in public exomes(2014)171 cited
- → Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood(2014)107 cited
- → The genotypic and phenotypic spectrum of PIGA deficiency(2015)86 cited
- → Atypical cerebral palsy: genomics analysis enables precision medicine(2018)59 cited
- → Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?(2015)45 cited