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

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 Denommé-PichonJordi Diaz-Manera, Stephanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José 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 Lochmüller, Estrella López-Martín, Alfons Macaya, Anna Marcé-Grau, Aleš Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Vincenzo Nigro, Catarina Olimpio, Solve RD DITF GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD-DITF-RND, SOLVE-RD Consortium, Han Brunner, Sergi Beltran*, Alexander Hoischen*

*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry