Marije Meuwissen hoofddocent

Publicaties Marije Meuwissen

Brain malformations and seizures by impaired chaperonin function of TRiC

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Science - ISSN 1095-9203-386:6721 (2024) p. 516-525
Auteur(s)
    Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Dimah Hasan, Ting-Ting Lee, Elisabetta Flex, Andreas Hentschel, A. Micheil Innes, Bixia Zheng, Dong Sun Julia Suh, Cordula Knopp, Eva Lausberg, Jeremias Krause, Xiaomeng Zhang, Pamela Trapane, Riley Carroll, Martin McClatchey, Andrew E. Fry, Lisa Wang, Sebastian Giesselmann, Hieu Hoang, Dustin Baldridge, Gary A. Silverman, Francesca Clementina Radio, Enrico Bertini, Andrea Ciolfi, Katherine A. Blood, Jean-Madeleine de Sainte Agathe, Perrine Charles, Gaber Bergant, Goran Čuturilo, Borut Peterlin, Karin Diderich, Haley Streff, Laurie Robak, Renske Oegema, Ellen van Binsbergen, John Herriges, Carol J. Saunders, Andrea Maier, Stefan Wolking, Yvonne Weber, Hanns Lochmüller, Wim Van Paesschen, Marije Meuwissen, Anna Jansen, Jessica Rosenblum, Ingo Kurth

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

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