Liedewei Van de Vondel unpaid staff

Publications Liedewei Van de Vondel

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

Source
Brain - ISSN 0006-8950-149:1 (2026) p. 178-193
Author(s)

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease

Source
Nature genetics - ISSN 1061-4036-57 (2025) p. 2361-2370
Author(s)
    Vicente A. Yepez, German Demidov, Kornelia Ellwanger, Steven Laurie, Rebeka Luknarova, Midhuna Immaculate Joseph Maran, Thomas Hentrich, Lydia Sagath, Bart van der Sanden, Galuh Astuti, Kornelia Neveling, Laura Batlle-Maso, Danique Beijer, Felix Brechtmann, Andres Caballero-Oteyza, Marc Dabad, Anne-Sophie Denomme-Pichon, Cenna Doornbos, Zakaria Eddafir, Berta Estevez-Arias, Ozge Aksel Kilicarslan, Ingrid H. M. Kolen, Leon Krass, Katja Lohmann, Shubhankar Londhe, Estrella Lopez-Martin, Kars Maassen, William Macken, Beatriz Martinez-Delgado, Davide Mei, Christian Mertes, Raffaella Minardi, Heba Morsy, Juliane S. Mueller, Daniel Natera-de Benito, Isabelle Nelson, Machteld M. Oud, Ida Paramonov, Daniel Pico, Davide Piscia, Kiran Polavarapu, Emanuele Raineri, Marco Savarese, Noor Smal, Marloes Steehouwer, Wouter Steyaert, Morris A. Swertz, Mirja Thomsen, Liedewei Van de Vondel, Holm Graessner

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

Source
Genome research - ISSN 1088-9051-35:4 (2025) p. 755-768
Author(s)
    Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve-Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Marjan Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O'Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Ludger Schöls, Kristl G. Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sarkozy, Irina Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horvath, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, Leslie Matalonga, Steven Laurie, Han G. Brunner, Holm Graessner, Sergi Beltran, Alexander Hoischen

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

Source
Genetics in medicine - ISSN 1098-3600-27:6 (2025) p. 1-13
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 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