Sarah E. Buerki

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Johannes R. Lemke, Dennis Lal, Eva M. Reinthaler et al. · Nature Genetics · 2013 · 436 citations

Neurobiology Of Disease, Neurophysiology, Genetics +10

Incidence and Outcomes of Symptomatic Neonatal Arterial Ischemic Stroke

Sebastian Grunt, Lea Mazenauer, Sarah E. Buerki et al. · PEDIATRICS · 2015 · 170 citations

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Anna Lehman, Samrat Thouta, Grazia M.S. Mancini et al. · The American Journal of Human Genetics · 2017 · 124 citations · Full text

Epileptic Encephalopathy, Neurophysiology, Genetic Disorder +10

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, C DeGuzman et al. · Frontiers in Neurology · 2019 · 98 citations · Full text

Neurogenomics, Genetics, Treatment Impact +25

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Ilaria Guella, Marna B. McKenzie, Daniel M. Evans et al. · The American Journal of Human Genetics · 2017 · 84 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5