Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie(Centro Nacional de Análisis Genómico), Catarina Olimpio(University of Cambridge), Tobias B. Haack(Technical University of Munich), Elisa Benetti(University of Siena), Enzo Cohen(Inserm), Patrick F. Chinnery(Freeman Hospital), Adam Jackson(University of Manchester), Aleš Maver(Ljubljana University Medical Centre), Stéphanie Efthymiou(Istituto Giannina Gaslini), Vincenzo Nigro(University of Campania "Luigi Vanvitelli"), Rita Horváth(University of Cambridge), Nika Schuermans(Ghent University Hospital), Daniel Daniš(Jackson Laboratory), Holger Hengel(German Center for Neurodegenerative Diseases), José Garcia‐Pelaez(Universidade do Porto), Mallory Freeberg(European Bioinformatics Institute), Kiran Polavarapu(University of Ottawa), Anna Marcé‐Grau(Universitat Autònoma de Barcelona), Hanns Lochmüller(University of Ottawa), Kornelia Ellwanger(University of Hohenheim), Gemma Bullich(Centro Nacional de Análisis Genómico), Jordi Díaz‐Manera(Hospital de Sant Pau), Melanie Kellner(German Center for Neurodegenerative Diseases), Lennart Johansson(University Medical Center Groningen), Anne‐Sophie Denommé‐Pichon(Inserm), Jonathan Baets(University of Antwerp), Didier Lacombe, Henry Houlden(National Hospital for Neurology and Neurosurgery), Coline Thomas(European Bioinformatics Institute), Anna Sommer(University of Bonn), Francesco Muntoni(Great Ormond Street Hospital), Estrella López‐Martín(Instituto de Salud Carlos III), Marcos Fernandez-Callejo(Centro Nacional de Análisis Genómico), Laurence Faivre(Université de Bourgogne), German Demidov(University of Tübingen), Léna Guillot‐Noël(Centre National de la Recherche Scientifique), Stefan Aretz(University of Bonn), Francesco Musacchia(University of Campania "Luigi Vanvitelli"), Erik-Jan Kamsteeg(Radboud University Nijmegen), Alfons Macaya(Universitat Autònoma de Barcelona)
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