Sarah Weckhuysen hoofddocent - fundamenteel klinisch navorser

Publicaties Sarah Weckhuysen

Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy

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Proceedings of the National Academy of Sciences of the United States of America - ISSN 0027-8424-121:49 (2024) p. 1-12
Auteur(s)
    Mario Nappi, Giulio Alberini, Alessandro Berselli, Agnese Roscioni, Maria Virginia Soldovieri, Ilenio Servettini, Vincenzo Barrese, Sarah Weckhuysen, Ting-Gee Annie Chiu, Ingrid E. Scheffer, Fabio Benfenati, Luca Maragliano, Francesco Miceli, Maurizio Taglialatela

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

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EBioMedicine - ISSN 2352-3964-106 (2024) p. 1-20
Auteur(s)
    Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

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European journal of human genetics - ISSN 1018-4813- (2024) p.
Auteur(s)
    Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije Meuwissen, Berten Ceulemans, Hope Northrup, Jeremy B. Hill, Lingying Liu, Edoardo Errichiello, Simone Gana, Alanna Strong, Luis Rohena, Rachel Franciskovich, Chaya N. Murali, An Huybrechs, Telma Sulem, Run Fridriksdottir, Patrick Sulem, Kari Stefansson, Yan Bai, Jill A. Rosenfeld, Seema R. Lalani, Haley Streff, Frank Kooy, Sarah Weckhuysen

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

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The American journal of human genetics - ISSN 0002-9297-111:6 (2024) p. 1184-1205
Auteur(s)
    Fang Yang, Anais Begemann, Nadine Reichhart, Akvile Haeckel, Katharina Steindl, Eyk Schellenberger, Ronja Fini Sturm, Magalie Barth, Sissy Bassani, Paranchai Boonsawat, Thomas Courtin, Bruno Delobel, Boudewijn Gunning, Katia Hardies, Mélanie Jennesson, Louis Legoff, Tarja Linnankivi, Clément Prouteau, Noor Smal, Marta Spodenkiewicz, Sandra P. Toelle, Koen Van Gassen, Wim Van Paesschen, Nienke Verbeek, Alban Ziegler, Markus Zweier, Anselm H.C. Horn, Heinrich Sticht, Holger Lerche, Sarah Weckhuysen, Olaf Strauß, Anita Rauch

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

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European journal of human genetics - ISSN 1018-4813-32 (2024) p. 928-937
Auteur(s)
    Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark, Emily L. Durham, Elizabeth M. Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Irene Valenzuela, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I. Dagli, M.J.M. Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdeněk Sedláček, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K. Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, Andre Reis, Tugce Balci, Marleen Simon, Hester Y. Kroes, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, Frank Kooy, Marije Meuwissen, Laura M. Bryant