Items where Author is "Weckhuysen, Sarah"

Journal Article

Zagaglia, Sara, Steel, Dora, Krithika, S., Hernandez-Hernandez, Laura, Custodio, Helena M., Gorman, Kathleen M., Vezyroglou, Aikaterini, Møller, Rikke S., King, Mary D., Hammer, Trine B., Spaull, Robert, Fazeli, Walid, Bartolomaeus, Tobias, Doummar, Diane, Keren, Boris, Mignot, Cyril, Bednarek, Nathalie, Cross, J. Helen, Mallick, Andrew A., Sanchis-Juan, Alba, Basu, Anna, Raymond, F. Lucy, Lynch, Bryan J., Majumdar, Anirban, Stamberger, Hannah, Weckhuysen, Sarah, Sisodiya, Sanjay M. and Kurian, Manju A. (2021) RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood. Neurology. ISSN 1526-632X

Steward, Charles A., Roovers, Jolien, Suner, Marie-Marthe, Gonzalez, Jose M., Uszczynska-Ratajczak, Barbara, Pervouchine, Dmitri, Fitzgerald, Stephen, Viola, Margarida, Stamberger, Hannah, Hamdan, Fadi F., Ceulemans, Berten, Leroy, Patricia, Nava, Caroline, Lepine, Anne, Tapanari, Electra, Keiller, Don, Abbs, Stephen, Sanchis-Juan, Alba, Grozeva, Detelina, Rogers, Anthony S., Diekhans, Mark, Guigó, Roderic, Petryszak, Robert, Minassian, Berge A., Cavalleri, Gianpiero, Vitsios, Dimitrios, Petrovski, Slavé, Harrow, Jennifer, Flicek, Paul, Raymond, F. Lucy, Lench, Nicholas J., De Jonghe, Peter, Mudge, Jonathan M., Weckhuysen, Sarah, Sisodiya, Sanjay M. and Frankish, Adam (2019) Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. npj Genomic Medicine, 4 (1). p. 31. ISSN 2056-7944

Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R., Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa B., Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne F., Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S. and Baulac, Stéphanie (2019) The landscape of epilepsy-related GATOR1 variants. Genetics in Medicine, 21 (2). pp. 398-408. ISSN 1530-0366