Simone C. Yendle

机构：The University of Melbourne, Austin Health · ORCID：0009-0001-4604-8195

发表论文 13 篇 · 总被引 2829 次 · h-index 13

代表论文

• Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 (2013 · Nature Genetics · 被引 707)
• KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy (2011 · Annals of Neurology · 被引 523)
• GRIN2A mutations cause epilepsy-aphasia spectrum disorders (2013 · Nature Genetics · 被引 382)
• Rare copy number variants are an important cause of epileptic encephalopathies (2011 · Annals of Neurology · 被引 250)
• Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology (2011 · Brain · 被引 228)
• Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations (2010 · Neurology · 被引 172)