Simone C. Yendle
University of Melbourne(AU)The University of Melbourne(AU)Austin Health(AU)Austin Health(AU)
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Ion channel regulation and function, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1(2013)686 cited
- → KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy(2011)503 cited
- → GRIN2A mutations cause epilepsy-aphasia spectrum disorders(2013)372 cited
- → Rare copy number variants are an important cause of epileptic encephalopathies(2011)244 cited
- → Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology(2011)221 cited
- → Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations(2010)167 cited
- → Mutations in KCNT1 cause a spectrum of focal epilepsies(2015)