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Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; ... (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457
Syrbe, Steffen; Hedrich, Ulrike B S; Riesch, Erik; Djémié, Tania; Müller, Stephan; Møller, Rikke S; Maher, Bridget; Hernandez-Hernandez, Laura; Synofzik, Matthis; Caglayan, Hande S; Arslan, Mutluay; Serratosa, José M; Nothnagel, Michael; May, Patrick; Krause, Roland; Löffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Krämer, Günter; ... (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature genetics, 47(4), pp. 393-399. Nature America 10.1038/ng.3239
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
Weckhuysen, S.; Ivanovic, V.; Hendrickx, R.; Van Coster, R.; Hjalgrim, H.; Moller, R. S.; Gronborg, S.; Schoonjans, A.-S.; Ceulemans, B.; Heavin, S. B.; Eltze, C.; Horvath, R.; Casara, G.; Pisano, T.; Giordano, L.; Rostasy, K.; Haberlandt, E.; Albrecht, B.; Bevot, A.; Benkel, I.; ... (2013). Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients. Neurology, 81(19), pp. 1697-1703. Lippincott Williams & Wilkins 10.1212/01.wnl.0000435296.72400.a1
Suls, Arvid; Jaehn, Johanna A.; Kecskés, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djémié, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, José; Lemke, Johannes; ... (2013). De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome. American journal of human genetics, 93(5), pp. 967-975. Cell Press 10.1016/j.ajhg.2013.09.017
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
Lemke, Johannes; Noack, Andreas; Adam, Dieter; Tchikov, Vladimir; Bertsch, Uwe; Röder, Christian; Schütze, Stefan; Wajant, Harald; Kalthoff, Holger; Trauzold, Anna (2010). TRAIL signaling is mediated by DR4 in pancreatic tumor cells despite the expression of functional DR5. Journal of molecular medicine JMM, 88(7), pp. 729-40. Berlin: Springer
Poloschek, Charlotte M; Bach, Michael; Lagreze, W A; Glaus, Esther; Lemke, Johannes; Berger, Wolfgang; Neidhardt, John (2010). ABCA4 and ROM1: Implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative ophthalmology & visual science, 51(8), pp. 4253-65. Hagerstown, Md.: Association for Research in Vision and Ophthalmology 10.1167/iovs.09-4655
Hilton, Emma; Johnston, Jennifer; Whalen, Sandra; Okamoto, Nobuhiko; Hatsukawa, Yoshikazu; Nishio, Juntaro; Kohara, Hiroshi; Hirano, Yoshiko; Mizuno, Seiji; Torii, Chiharu; Kosaki, Kenjiro; Manouvrier, Sylvie; Boute, Odile; Perveen, Rahat; Law, Caroline; Moore, Anthony; Fitzpatrick, David; Lemke, Johannes; Fellmann, Florence; Debray, Francois-Guillaume; ... (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European journal of human genetics, 17(10), 1325-35. Epub 2009 Apr 15.. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2009.52
