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Wilbur, Colin; Bürki, Sarah Elisabeth; Guella, Ilaria; Toyota, Eric B; Evans, Daniel M; McKenzie, Marna B; Datta, Anita; Michoulas, Aspasia; Adam, Shelin; Van Allen, Margot I; Nelson, Tanya N; Farrer, Matthew J; Connolly, Mary B; Demos, Michelle (2017). An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. Pediatric neurology, 75, pp. 87-90. Elsevier 10.1016/j.pediatrneurol.2017.06.003
Guella, Ilaria; McKenzie, Marna B; Evans, Daniel M; Bürki, Sarah Elisabeth; Toyota, Eric B; Van Allen, Margot I; Epilepsy Genomics Study, Study; Suri, Mohnish; Elmslie, Frances; Deciphering Developmental Disorders, Study; Simon, Marleen E H; van Gassen, Koen L I; Héron, Delphine; Keren, Boris; Nava, Caroline; Connolly, Mary B; Demos, Michelle; Farrer, Matthew J (2017). De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. American journal of human genetics, 101(2), pp. 300-310. Cell Press 10.1016/j.ajhg.2017.07.004
Bürki, Sarah Elisabeth; Grandgirard, Denis; Datta, Alexandre N; Hackenberg, Annette; Martin, Florence; Schmitt-Mechelke, Thomas; Leib, Stephen L; Steinlin, Maja (2016). Inflammatory markers in pediatric stroke: An attempt to better understanding the pathophysiology. European journal of paediatric neurology, 20(2), pp. 252-260. Elsevier 10.1016/j.ejpn.2015.12.006
Grunt, Sebastian; Mazenauer, Lea; Bürki, Sarah Elisabeth; Boltshauser, Eugen; Mori, Andrea Capone; Datta, Alexandre N; Fluss, Joël; Mercati, Danielle; Keller, Elmar; Maier, Oliver; Poloni, Claudia; Ramelli, Gian-Paolo; Schmitt-Mechelke, Thomas; Steinlin, Maja (2015). Incidence and outcomes of symptomatic neonatal arterial ischemic stroke. Pediatrics, 135(5), e1220-e1228. American Academy of Pediatrics 10.1542/peds.2014-1520
Aellen, Jerome; Abela, Eugenio; Bürki, Sarah Elisabeth; Kottke, Raimund; Springer, Elisabeth; Schindler, Kaspar Anton; Weisstanner, Christian; El-Koussy, Marwan; Schroth, Gerhard; Wiest, Roland; Gralla, Jan; Verma, Rajeev Kumar (2014). Focal hemodynamic patterns of status epilepticus detected by susceptibility weighted imaging (SWI). European radiology, 24(11), pp. 2980-2988. Springer 10.1007/s00330-014-3284-9
Lemke, Johannes; Lal, Dennis; Reinthaler, Eva M; Steiner, Isabelle; Nothnagel, Michael; Alber, Michael; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Finsterwalder, Katrin; Franke, Andre; Schilhabel, Markus; Jähn, Johanna A; Muhle, Hiltrud; Boor, Rainer; Van Paesschen, Wim; Caraballo, Roberto; Fejerman, Natalio; Weckhuysen, Sarah; De Jonghe, Peter; ... (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature genetics, 45(9), pp. 1067-1072. Nature America 10.1038/ng.2728
Hansen, Jörg; Mohr, Julia; Bürki, Sarah Elisabeth; Lemke, Johannes (2013). A case of cohesinopathy with a novel de-novo SMC1A splice site mutation. Clinical Dysmorphology, 22(4), pp. 143-145. 10.1097/MCD.0b013e3283645439
