Prevalence of SCN1A-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study

by Verbeek, Nienke E., van der Maas, Nicoline A. T., Jansen, Floor E., van Kempen, Marjan J. A., Lindhout, Dick, Brilstra, Eva H.
Published 2013

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

by van Daalen, Emma, Kemner, Chantal, Verbeek, Nienke E., van der Zwaag, Bert, Dijkhuizen, Trijnie, Rump, Patrick, Houben, Renske, van ‘t Slot, Ruben, de Jonge, Maretha V., Staal, Wouter G., Beemer, Frits A., Vorstman, Jacob A. S., Burbach, J. Peter H., van Amstel, Hans Kristian Ploos, Hochstenbach, Ron, Brilstra, Eva H., Poot, Martin
Published 2011

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

by Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, Mitchison, Hannah M
Published 2013

Identification of Srp9 as a febrile seizure susceptibility gene

by Hessel, Ellen V S, de Wit, Marina, Wolterink-Donselaar, Inge G, Karst, Henk, de Graaff, Esther, van Lith, Hein A, de Bruijn, Ewart, de Sonnaville, Sophietje, Verbeek, Nienke E, Lindhout, Dick, de Kovel, Carolien G F, Koeleman, Bobby P C, van Kempen, Marjan, Brilstra, Eva, Cuppen, Edwin, Loos, Maarten, Spijker, Sabine S, Kan, Anne A, Baars, Susanne E, van Rijen, Peter C, Gosselaar, Peter H, Groot Koerkamp, Marian J A, Holstege, Frank C P, van Duijn, Cornelia, Vergeer, Jeanette, Moll, Henriette A, Taubøll, Erik, Heuser, Kjell, Ramakers, Geert M J, Pasterkamp, R Jeroen, van Nieuwenhuizen, Onno, Hoogenraad, Casper C, Kas, Martien J H, de Graan, Pierre N E
Published 2014

Pitfalls in genetic testing: the story of missed SCN1A mutations

by Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., de Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, van Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, Suls, Arvid
Published 2016