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

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

Source
Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-24
Author(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

Source
GigaScience - ISSN 2047-217X-13 (2024) p. 1-14
Author(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