Jonathan De Winter doctoraatsbursaal

Publicaties Jonathan De Winter

Genetic insights in hereditary neurological and neuromuscular disorders : spectrins bridge neurons to muscles

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Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2025,201 p.
Auteur(s)

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

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Genetics in medicine - ISSN 1098-3600-27:6 (2025) p. 1-13
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 Topf, Jordi Diaz-Manera, Volker Straub, Cheryl Longman, Catherine A. McWilliam, Rotem Orbach, Sumit Verma, Regina Laine, Sandra Donkervoort, Carsten G. Bonnemann, Adriana Rebelo, Stephan Zuchner, Tiffany Grider, Michael E. Shy, Isabelle Maystadt, Florence Demurger, Anita Cairns, Sarah Beecroft, Chiara Folland, Willem De Ridder, Gina Ravenscroft, Gisele Bonne, Bjarne Udd, Jonathan Baets

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