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

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)

KV7.2 channel dysfunction delays neuronal maturation and undermines early network development in a hiPSC model of KCNQ2-DEE

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Neurobiology of disease - ISSN 0969-9961-216 (2025) p. 1-15
Auteur(s)
    Filip Rosa, Stephan Theiss, Susanne Krepp, Heidi Loeffler, Dulini C. Mendis, Stefanie Klingenstein, Stefan Liebau, Sarah Weckhuysen, Michael Alber, Steven Petrou, Holger Lerche, Snezana Maljevic, Thomas V. Wuttke