Sarah Weckhuysen hoofddocent - fundamenteel klinisch navorser

Publicaties Sarah Weckhuysen

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

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

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Nature communications - ISSN 2041-1723-16:1 (2025) p. 1-21
Auteur(s)
    Ghayda M. Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe, Sara Timpano, Binnaz Yalcin, Stephan Collins, Alban Ziegler, Emily Pao, Nora Oyama, Elise Brischoux-Boucher, Juliette Piard, Kristin G. Monaghan, Maria. J. Guillen Sacoto, William B. Dobyns, Kristen L. Park, Daniel Martin Fernandez-Mayoralas, Alberto Fernandez-Jaen, Parul Jayakar, Maria Palomares-Bralo, Fernando Santos-Simarro, Alfredo Brusco, Vincenzo Antona, Elisa Giorgio, Malin Kvarnung, Bertrand Isidor, Solene Conrad, Benjamin Cogne, Wallid Deb, Kyra E. Stuurman, Katalin Sterbova, Noor Smal, Sarah Weckhuysen, Renske Oegema, A. Micheil Innes, Daniel. C. Koboldt, Tawfeg Ben-Omran, Rebecca C. Yeh, Michael C. Kruer, Somayeh Bakhtiari, Antigone Papavasiliou, Sebastien Moutton, Sophie Nambot, Sirisak Chanprasert, Sarah A. Paolucci, Kait Miller, Barbara Burton, Katherine Kim, David J. Picketts

Imaging brain development in a KCNQ2-developmental and epileptic encephalopathy mouse model : identifying early biomarkers for functional and structural brain changes

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EBioMedicine - ISSN 2352-3964-121 (2025) p. 1-16
Auteur(s)