Willem De Ridder onbezoldigd medewerker

Publicaties Willem De Ridder

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy

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Journal of neurology - ISSN 0340-5354-272:2 (2025) p. 1-12
Auteur(s)
    Pablo Iruzubieta, Jose Verdu-Diaz, Ana Topf, Leonela Luce, Kristl G. Claeys, Willem De Ridder, Lidia Gonzalez-Quereda, Carlos Pablo de Fuenmayor-fernandez de la Hoz, Juan Jose Poza, Miren Zulaica, Peter De Jonghe, Jennifer Duff, Magdalena Mroczek, Paloma Martin-Jimenez, Aurelio Hernandez-Lain, Cristina Dominguez-Gonzalez, Jonathan Baets, Pia Gallano, Jordi Diaz-Manera, Volker Straub, Adolfo Lopez de Munain, Roberto Fernandez-Torron

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

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Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-24
Auteur(s)
    German Demidov, Burcu Yaldiz, José Garcia-Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltran, Christian Gilissen, Alexander Hoischen, Stephan Ossowski, Richarda de Voer, Katja Lohmann, Carla Oliveira, Ana Topf, Lisenka E.L.M. Vissers, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Marc Sturm, Joohyun Park, Leon Schütz, Julia M. Schulze-Hentrich, Rebecca Schüle, Jishu Xu, Melanie Kellner, Baptist Resch, Ingrid Kolen, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Danique Beijer, Peter Heutink, Ludger Schöls, Holger Hengel, Holger Lerche, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Hannah Stamberger, Charissa Millevert, Noor Smal, Steven Laurie

An interconnected data infrastructure to support large-scale rare disease research

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GigaScience - ISSN 2047-217X-13 (2024) p. 1-14
Auteur(s)
    Lennart F. Johansson, Steve Laurie, Dylan Spalding, Spencer Gibson, David Ruvolo, Coline Thomas, Davide Piscia, Fernanda de Andrade, Gerieke Been, Marieke Bijlsma, Han Brunner, Sandi Cimerman, Farid Yavari Dizjikan, Kornelia Ellwanger, Marcos Fernandez, Mallory Freeberg, Gert-Jan van de Geijn, Roan Kanninga, Vatsalya Maddi, Mehdi Mehtarizadeh, Pieter Neerincx, Stephan Ossowski, Ana Rath, Dieuwke Roelofs-Prins, Marloes Stok-Benjamins, K. Joeri van der Velde, Colin Veal, Gerben van der Vries, Marc Wadsley, Gregory Warren, Birte Zurek, Thomas Keane, Holm Graessner, Sergi Beltran, Morris A. Swertz, Anthony J. Brookes, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Jonathan De Winter, Danique Beijer, Peter De Jonghe, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Patrick May

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

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medRxiv : the preprint server for health sciences- (2024) p.
Auteur(s)
    Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen, Tanya Stojkovic, Peter Hackman, Mridul Johari, Johanna Palmio, Megan A Waldrop, Alayne P Meyer, Stefan Nicolau, Kevin M Flanigan, Ana Töpf, Jordi Diaz-Manera, Volker Straub, Cheryl Longman, Catherine A. McWilliam, Rotem Orbach, Sumit Verma, Regina Laine, Sandra Donkervoort, Carsten G. Bonnemann, Adriana Rebelo, Stephan Züchner, Tiffany Grider, Michael E. Shy, Isabelle Maystadt, Florence Demurger, Anita Cairns, Sarah Beecroft, Chiara Folland, Willem De Ridder, Gina Ravenscroft, Gisèle Bonne, Bjarne Udd, Jonathan Baets