Sarah Weckhuysen hoofddocent - fundamenteel klinisch navorser

Publicaties Sarah Weckhuysen

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

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The American journal of human genetics - ISSN 0002-9297-113:3 (2026) p. 600-615
Auteur(s)
    Valentina Serpieri, Myriam Vezain-Mouchard, Alessia Orsi, Maryline Lecointre, Concetta Mazzotta, Florent Marguet, Anna Garbelli, Pascale Marcorelles, Ludovica Celli, Alice Goldenberg, Roberta De Mori, Nathalie Drouot, Francesco Petrizzelli, François Janin, Gaël Nicolas, Noor Smal, Claudia Condoluci, Carla Marini, Frederic Tran-Mau-Them, Valentin Ruault, Alessia Micalizzi, Silvia Bione, Tommaso Mazza, Anna Pichiecchio, Monia Ginevrino, Sarah Weckhuysen, Alice Bedois, Béatrice Desnous, Laurent Hermitte, Grace Rabie, Moien Kanaan, Bruno J. Gonzalez, Simone Sabbioneda, Annie Laquerrière, Pascale Saugier-Veber, Enza Maria Valente

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

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Epilepsia - ISSN 0013-9580-67:4 (2026) p. 1945-1960
Auteur(s)
    Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El-kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Hojte, Stephane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke-Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al-Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson-Lyver, Ira Benkel-Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P.J. Braun, Anne-marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Rikke S. Moller

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

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Molecular psychiatry - ISSN 1359-4184-31 (2026) p. 374-382
Auteur(s)
    Johannes R. Lemke, Andrea Eoli, Ilona Krey, Bernt Popp, Vincent Strehlow, Dirk A. Wittekind, Anna-Leena Vuorinen, Hesham M. Aldhalaan, Sarah Baer, Anne de Saint Martin, Trine B. Hammer, Isabella Herman, Frauke Hornemann, Trine Ingebrigtsen, Damien Lederer, Gaetan Lesca, Dana Marafie, Mikael Mathot, Jill A. Rosenfeld, Rikke S. Moller, Helenius J. Schelhaas, Chelsey Stillman, Alessandro Orsini, Anup D. Patel, Juliette Piard, Pierangelo Veggiotti, Danique R.M. Vlaskamp, Sarah Weckhuysen, Stephen F. Traynelis, Tim A. Benke, Henrike O. Heyne, Steffen Syrbe

The genetic and phenotypic spectrum of GABRB1-related disorders

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Brain - ISSN 0006-8950-149:2 (2026) p. 534-547
Auteur(s)
    Charissa Millevert, Anthony Sze Hon Kan, Moritz Hanke, Mahmoud Koko, Maryam Erfanian Omidvar, Ulrike B.S. Hedrich, Thomas V. Wuttke, Nina Barišić, Lieven Lagae, Ángel Aledo-Serrano, Eva-Maria Niehoff, Konrad Platzer, Pia Zacher, Tilman Polster, Robertino Dilena, Edoardo Monfrini, David Geneviève, Agathe Roubertie, Ange-Line Bruel, Frederic Tran Mau-Them, Majed Dasouki, Stacey Cohen, Ingo Helbig, Alicia G. Harrison, Ellis Colin, Holly A. Dubbs, Eric D. Marsh, Sébastien Lebon, Na He, Heng Meng, Mary Chebib, Rikke S. Møller, Carla Marini, Philip K. Ahring, Holger Lerche, Sarah Weckhuysen