Wouter Steyaert senior researcher

Publications Wouter Steyaert

Accepting or declining preconception expanded carrier screening : an exploratory study with 407 couples

Source
Journal of genetic counseling - ISSN 1059-7700-34:1 (2025) p. 1-8
Author(s)
    Ariane J.A.G. Van Tongerloo, Hannah Verdin, Wouter Steyaert, Paul J. Coucke, Sandra Janssens

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

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 exome sequencing data from patients with inborn errors of immunity : cohort level diagnostic yield and the benefit of systematic reanalysis

Source
Clinical immunology - ISSN 1521-6616-268 (2024) p. 1-17
Author(s)
    Emil E. Vorsteveld, Caspar I. Van der Made, Sanne P. Smeekens, Janneke H. Schuurs-Hoeijmakers, Galuh Astuti, Heleen Diepstra, Christian Gilissen, Evelien Hoenselaar, Alice Janssen, Kees van Roozendaal, Jettie van Engelen Sikkema, Wouter Steyaert, Marjan M. Weiss, Helger G. Yntema, Tuomo Mantere, Mofareh S. AlZahrani, Koen van Aerde, Beata Derfalvi, Eissa Ali Faqeih, Stefanie S.V. Henriet, Elise van Hoof, Eman Idressi, Thomas B. Issekutz, Marjolijn C.J. Jongmans, Riikka Keski-Filppula, Ingrid Krapels, Maroeska te Loo, Catharina M. Mulders-Manders, Jaap ten Oever, Judith Potjewijd, Nora Tarig Sarhan, Marjan C. Slot, Paulien A. Terhal, Herman Thijs, Anthony Vandersteen, Els K. Vanhoutte, Frank van de Veerdonk, Gijs van Well, Mihai G. Netea, Rob J.W. Arts, Else M. Bijker, Mariolina Bruno, Willemijn Hobo, Esther Hoppenreijs, Marien I. de Jonge, Arjan van Laarhoven, Renate van der Molen, Manon Oud, Ellen J.H. Schatorje, Alexander Hoischen