Jonathan Baets professor - fund. clinical researcher

Publications Jonathan Baets

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Source
Nature medicine - ISSN 1078-8956-31 (2025) p. 478-489
Author(s)
    Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Anna K. Sommer, German Demidov, Kornelia Ellwanger, Ida Paramonov, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jill Clayton-Smith, Enzo Cohen, Daniel Danis, Jean-Madeleine de Sainte Agathe, Anne-Sophie Denomme-Pichon, Jordi Diaz-Manera, Stephanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, Jose Garcia-Pelaez, Lena Guillot-Noel, Tobias B. Haack, Mike Hanna, Holger Hengel, Rita Horvath, Henry Houlden, Adam Jackson, Lennart Johansson, Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner, Tjitske Kleefstra, Didier Lacombe, Hanns Lochmueller, Estrella Lopez-Martin, Alfons Macaya, Anna Marce-Grau, Ales Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Liedewei Van de Vondel, Alexander Hoischen

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy

Source
Journal of neurology - ISSN 0340-5354-272:2 (2025) p. 1-12
Author(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

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

Source
medRxiv : the preprint server for health sciences- (2024) p.
Author(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