Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

German Demidov, Stephan Ossowski, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Marc Sturm, Joohyun Park, Leon Schütz & Julia M. Schulze-Hentrich

Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany

German Demidov & Stephan Ossowski

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

Burcu Yaldiz, Elke de Boer, Karolis Sablauskas, Christian Gilissen, Alexander Hoischen, Richarda de Voer, Lisenka E. L. M. Vissers, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Wouter Steyaert, Richarda de Voer, Erik-Jan Kamsteeg, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Kornelia Neveling, Bart van der Sanden, Lydia Sagath & Tjitske Kleefstra

Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands

Burcu Yaldiz & Han Brunner

i3S - Instituto de Investigação e Inovação em Saúde, Rua Alfredo Allen, 208, 4200-135, Porto, Portugal

José Garcia-Pelaez, Carla Oliveira, Rita Barbosa-Matos, Celina São José, Marta Ferreira, Irene Gullo, Pedro Ferreira & Fátima Carneiro

IPATIMUP - Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal

José Garcia-Pelaez, Carla Oliveira, Rita Barbosa-Matos, Celina São José, Marta Ferreira, Irene Gullo, Pedro Ferreira & Fátima Carneiro

Faculty of Medicine, University of Porto, Porto, Portugal

José Garcia-Pelaez, Carla Oliveira, Irene Gullo & Fátima Carneiro

Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands

Elke de Boer, Lisenka E. L. M. Vissers, Han Brunner, Hans Scheffer, Bart van de Warrenburg, Nienke van Os, Elke de Boer & Tjitske Kleefstra

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands

Elke de Boer & Elke de Boer

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Nika Schuermans, Elke Bogaert, Bart Dermaut, Bruce Poppe & Hannah Verdin

Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium

Liedewei Van de Vondel, Jonathan Baets, Geert de Vries, Jonathan De Winter, Liedewei Van de Vondel, Willem De Ridder & Sarah Weckhuysen

Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

Liedewei Van de Vondel, Vincent Timmerman, Geert de Vries, Jonathan De Winter, Peter de Jonghe, Liedewei Van de Vondel & Willem De Ridder

Centro Nacional de Análisis Genómico (CNAG), C/Baldiri Reixac 4, 08028, Barcelona, Spain

Ida Paramonov, Gemma Bullich, Sergi Beltran, Ivo Glynne Gut, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Alberto Corvo, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Anna Esteve Codina, Marc Dabad, Marta Gut, Emanuele Raineri & Steven Laurie

Universitat de Barcelona (UB), Barcelona, Spain

Ida Paramonov, Gemma Bullich, Sergi Beltran, Ivo Glynne Gut, Leslie Matalonga, Anastasios Papakonstantinou, Alberto Corvo, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó & Steven Laurie

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands

Lennart F. Johansson, Morris A. Swertz, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins & David Ruvolo

Center for Human Technologies, Italian Institute of Technology (IIT), Genova, Italy

Francesco Musacchia

Telethon Institute for Genetics and Medicine, 80078, Pozzuoli (Napoli), Italy

Francesco Musacchia, Vincenzo Nigro, Manuela Morleo, Michele Pinelli, Sandro Banfi & Annalaura Torella

Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100, Siena, Italy

Elisa Benetti, Chiara Fallerini, Simone Furini, Flavia Privitera, Alessandra Renieri & Kristina Zguro

Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania

Karolis Sablauskas

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain

Sergi Beltran

Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands

Alexander Hoischen, Nicoline Hoogerbrugge, Peter A. C. ’t Hoen, Wouter Steyaert, Iris te Paske & Erik Janssen

Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands

Alexander Hoischen

Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands

Richarda de Voer & Richarda de Voer

Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany

Katja Lohmann & Martje Pauly

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

Ana Topf, Volker Straub, Chiara Marini Bettolo & Jordi Diaz Manera

Centre for Rare Diseases, University of Tübingen, Tübingen, Germany

Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek & Kornelia Ellwanger

Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany

Julia M. Schulze-Hentrich

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany

Rebecca Schüle, Jishu Xu, Melanie Kellner, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Peter Heutink, Ludger Schöls & Holger Hengel

Division of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, University of Heidelberg, Heidelberg, Germany

Rebecca Schüle, Baptist Resch & Ingrid Kolen

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany

Jishu Xu, Melanie Kellner, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Peter Heutink, Ludger Schöls & Holger Hengel

Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany

Danique Beijer

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany

Holger Lerche, Christian Boßelmann, Josua Kegele, Robert Lauerer-Braun & Stephan Lauxmann

Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands

Peter A. C. ’t Hoen

Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands

Bart van de Warrenburg & Nienke van Os

Department of Genetics and Genome Biology, University of Leicester, Leicester, UK

Anthony J. Brookes, Spencer Gibson, Umar Riaz, Greg Warren, Sai Anuhya Nalagandla, Yunze Patrick Wang, Deepthi Sukumaran & Sadegh Abadijou

Primary Immunodeficiency Group, Translational and Clinical Research Institute, Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

Sophie Hambleton & Karin Engelhardt

Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9WL, UK

Jill Clayton-Smith, Siddharth Banka & Adam Jackson

Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, M13 9WL, UK

Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander & Adam Jackson

Dijon University Hospital, Genetics Department, Dijon, France

Laurence Faivre & Christel Thauvin

Dijon University Hospital, Centre of Reference for Rare Diseases: Development disorders and malformation syndromes, Dijon, France

Laurence Faivre & Christel Thauvin

Inserm - University of Burgundy-Franche Comté, UMR1231 GAD, Dijon, France

Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Ange-Line Bruel & Victor Couturier

Dijon University Hospital, FHU-TRANSLAD, Dijon, France

Laurence Faivre, Christel Thauvin & Yannis Duffourd

Dijon University Hospital, GIMI institute, Dijon, France

Laurence Faivre & Christel Thauvin

Universitat Pompeu Fabra (UPF), Barcelona, Spain

Anna Esteve Codina & Marta Gut

EURORDIS-Rare Diseases Europe, Sant Antoni Maria Claret, 167 - 08025, Barcelona, Spain

Gulcin Gumus

EURORDIS-Rare Diseases Europe, Plateforme Maladies Rares, 75014, Paris, France

Virginie Bros-Facer

INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014, Paris, France

Ana Rath, Marc Hanauer, David Lagorce, Oscar Hongnat, Maroua Chahdil, Caterina Lucano & Emeline Lebreton

Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne university, Paris, France

Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann & Giulia Coarelli

INCIA, EPHE, CNRS UMR5287, Bordeaux university, Bordeaux, France

Giovanni Stevanin

Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

Alexandra Durr, Anna Heinzmann & Giulia Coarelli

Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013, Paris, France

Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia & Tanya Stojkovic

AP-HP, Centre de Référence de Pathologie Neuromusculaire Nord, Est, Ile-de-France, Institut de Myologie, G.H. Pitié-Salpêtrière, F-75013, Paris, France

Teresinha Evangelista, Rabah Ben Yaou, Bruno Eymard & Tanya Stojkovic

Institut de Myologie, Equipe Bases de données, G.H. Pitié-Salpêtrière, F-75013, Paris, France

Rabah Ben Yaou

AP-HP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, G.H. Pitié-Salpêtrière, F-75013, Paris, France

Corinne Metay

Department of Biology and Medical Genetics, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic

Milan Macek Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová & Lukáš Ryba

Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

Petra Lišková

Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

Petra Lišková

Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Centre for Paediatric Rheumatology and Autoinflammatory Diseases, Charles University and General University Hospital in Prague, Prague, Czech Republic

Pavla Doležalová

Department of Cardiology-Institute of Clinical and Experimental Medicine and Department of Biology and Medical Genetics-2nd Faculty of Medicine Charles University, Prague, Czech Republic

Alice Krebsová

European Bioinformatics Institute, European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, Cambridge, UK

Helen Parkinson, Thomas Keane, Mallory Freeberg, Coline Thomas & Dylan Spalding

CSC–IT Center for Science, 02101, Espoo, Finland

Dylan Spalding

Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA

Peter Robinson & Daniel Danis

Berlin Institute of Health at Charité–Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany

Peter Robinson

Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King’s College, London, UK

Glenn Robert & Alison Metcalfe

Society and Ethics Research, Connecting Science, Wellcome Genome Campus, Hinxton, UK

Alessia Costa

MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK

Mike Hanna & Mary Reilly

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK

Henry Houlden, Jana Vandrovcova, Stephanie Efthymiou, Heba Morsy & Elisa Cali

Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt

Heba Morsy

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK

Francesca Magrinelli

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK

Sanjay M. Sisodiya, Ravishankara Bellampalli & Patrick Moloney

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK

Jonathan Rohrer

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK

Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Luke Perry, Veronica Pini & Juliane Müller

NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK

Francesco Muntoni & Luke Perry

Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium

Vincent Timmerman

Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium

Jonathan Baets, Jonathan De Winter, Peter de Jonghe, Willem De Ridder, Sarah Weckhuysen, Hannah Stamberger & Charissa Millevert

VIB-CMN, Applied and Translational Neurogenomics Group, Antwerpen, Belgium

Sarah Weckhuysen, Hannah Stamberger, Charissa Millevert & Noor Smal

Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy

Vincenzo Nigro, Manuela Morleo, Sandro Banfi, Annalaura Torella, Roberta Zeuli, Mariateresa Zanobio & Giulio Piluso

Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy

Alessandra Ferlini, Rita Selvatici, Francesca Gualandi, Stefania Bigoni & Marcella Neri

Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany

Stefan Aretz, Isabel Spier, Anna Katharina Sommer & Sophia Peters

Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany

Stefan Aretz & Isabel Spier

CHUSJ, Centro Hospitalar e Universitário de São João, Porto, Portugal

Irene Gullo, Luzia Garrido & Fátima Carneiro

Departament of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal

Susana Fernandes

Faculty of Sciences, University of Porto, Porto, Portugal

Pedro Ferreira

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

Marielle van Gijn, Kristin M. Abbott, Wilhemina S. Kerstjens Frederikse & Eveline Zonneveld-Huijssoon

Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands

Marielle van Gijn

Ada Health GmbH, Karl-Liebknecht-Str. 1, 10178, Berlin, Germany

Sebastian Köhler

College of Health, Well-being and Life-Sciences, Sheffield Hallam University, Sheffield, UK

Alison Metcalfe

Advanced Wellbeing Research Centre, Sheffield Hallam University, Olympic Legacy Park, 2 Old Hall Road, Sheffield, S9 3TU, UK

Richard Moore

Dept of Genetics, Assistance Publique-Hôpitaux de Paris-Université de Paris, Robert DEBRE University Hospital, 48 bd SERURIER, Paris, France

Alain Verloes & Séverine Drunat

INSERM UMR 1141 “NeuroDiderot”, Hôpital Robert DEBRE, Paris, France

Alain Verloes & Séverine Drunat

Department of Genetics, Assistance Publique-Hôpitaux de Paris - Sorbonne Université, Pitié-Salpêtrière University Hospital, 83 Boulevard de l’Hôpital, Paris, France

Delphine Heron, Cyril Mignot, Boris Keren & Jean-Madeleine de Sainte Agathe

Reference Center of Rare Diseases “Intellectuel Disability of Rare Causes”, Paris, France

Delphine Heron

Institut du Cerveau (ICM), UMR S 1127, Inserm U1127, CNRS UMR 7225, Sorbonne Université, 75013, Paris, France

Cyril Mignot

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

Rami Abou Jamra, Tobias Bartolomaeus & Konrad Platzer

Genetic Medicine Division, University Hospitals and University of Geneva, Geneva, Switzerland

Marc Abramowicz, Eva Hammar Bouveret, Frédéric Masclaux & Roxane van Heurck

Genetics & Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland

Marc Abramowicz

Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada

Özge Aksel Kiliçarslan, Hanns Lochmüller, Sivasankar Malaichamy, Kiran Polavarapu, Andreas Roos & Rachel Thompson

Paediatric Neurology, University Hospital Galway, Galway, Ireland

Nicholas Allen

Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain

Francisco Javier Alonso García de la Rosa, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado & Manuel Posada De la Paz

Neuroscience Department, Children’s Hospital A. Meyer-University of Florence, 50139, Florence, Italy

Simona Balestrini, Davide Mei & Elena Parrini

Institute of Genomic Medicine and Rare Diseases, Semmelweis University, Budapest, Hungary

Peter Balicza & Maria Judit Molnar

Koç Universıty, School of Medicine, Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey

Ayşe Nazl Başak

Infection in Immunocompromised Pediatric Patients Research Group, Vall d’Hebron Research Institute (VHIR), Barcelona, Spain

Laura Batlle Masó

Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron University Hospital (HUVH), Barcelona, Spain

Laura Batlle Masó

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK

David Beeson & Judith Cossins

Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium

Valerie Benoit, Sylvain Brohée, Karin Dahan, Julie Desir, Anne Destrée, Deniz Karadurmus, Isabelle Maystadt, Colombine Meunier, Olivier Monestier & Stéphanie Moortgat

School of Pharmacy and Bimolecular Sciences, RCSI, Dublin, Ireland

Katherine Benson, Gianpiero Cavalleri, Norman Delanty, Hamidah Ghani & Marie Greally

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

Emilia K. Bijlsma, Mariette J. V. Hoffer, Claudia A. L. Ruivenkamp & Gijs W. E. Santen

Neurology/Neurogenetics Laboratory University of Crete, Heraklion, Crete, Greece

Mara Bourbouli, Minas Drakos, Evgenia Kokosali, Lambros Mathioudakis & Ioannis Zaganas

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria

Kaan Boztug & Matthias Haimel

St. Anna Children’s Cancer Research Institute (CCRI), Vienna, Austria

Kaan Boztug & Matthias Haimel

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria

Kaan Boztug & Matthias Haimel

Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Kaan Boztug

St. Anna Children’s Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Kaan Boztug

SFI FutureNeuro Research Centre, Dublin, Ireland

Susan Byrne, Gianpiero Cavalleri, Norman Delanty, Hamidah Ghani & Marie Greally

Department of Paediatrics, RCSI, Dublin, Ireland

Susan Byrne

Department of Paediatrics Neurology, CHI, Dublin, Ireland

Susan Byrne, Mary O. Reghan & David Webb

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany

Andrés Caballero Garcia de Oteyza & Bodo Grimbacher

RESIST – Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany

Andrés Caballero Garcia de Oteyza & Bodo Grimbacher

Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain

Gabriel Capella & Laura Valle

Catalan Institute of Oncology (IROCA), Barcelona, Spain

Gabriel Capella & Laura Valle

Pediatric Neurology Department, Saint-Luc University Hospital, Université Catholique de Louvain, Brussels, Belgium

Evelina Carpancea & Maria-Roberta Cilio

SFI Centre for Research Training in Genomics Data Science, Dublin, Ireland

Gianpiero Cavalleri & Hamidah Ghani

Pediatric Neurology Research Group, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain

Ana Cazurro-Gutiérrez, Alfons Macaya, Anna Marcé-Grau, Francina Munell & Belén Pérez-Dueñas

Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK

Patrick F. Chinnery, Rita Horvath, Catarina Olimpio & Katherine Schon

Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK

Patrick F. Chinnery

Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy

Andrea Ciolfi, Bruno Dallapiccola, Marco Ferilli, Francesca Clementina Radio & Marco Tartaglia

Department of Neurology, University Hospitals Leuven, Leuven, Belgium

Kristl Claeys

Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, Leuven, Belgium

Kristl Claeys

Diagnostic Immunology Research Group, Vall d’Hebron Research Institute (VHIR), Barcelona, Spain

Roger Colobran

Immunology Division, Genetics Department, Vall d’Hebron University Hospital (HUVH), Barcelona, Spain

Roger Colobran

Immunology Unit, Department of Cell Biology, Physiology and Immunology. Autonomous University of Barcelona (UAB), Bellaterra, Spain

Roger Colobran

Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany

Isabell Cordts & Marcus Deschauer

Département de néphrologie, Cliniques Universitaires Saint-Luc, Bruxelles, Belgium

Karin Dahan

Department of Neurology, Beaumont Hospital, Dublin, Ireland

Norman Delanty

Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany

Christel Depienne & Elsa Leitão

Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France

Christel Depienne

Department of Neurology, CUB Erasme Hospital, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium

Chantal Depondt & Sarah Duerinckx

Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium

Bart Dermaut, Dimitri Hemelsoet & Bruce Poppe

Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium

Bart Dermaut & Bruce Poppe

Neuromuscular Disorders Unit, Department of Pediatric Neurology. Hospital Sant Joan de Déu, Barcelona, Spain

Berta Estevez, Andrés Nascimento Osorio & Daniel Natera de Benito

Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain

Berta Estevez

Saint Luke Hospital, Division of Child Neurology, Thessaloniki, Greece

Athanasios Evangeliou

Medical Genetics, University of Siena, Siena, Italy

Chiara Fallerini, Simone Furini, Flavia Privitera, Alessandra Renieri & Kristina Zguro

School of Computation, Information and Technology, Technical University of Munich, Garching, Germany

Julien Gagneur, Leon Krass, Rebeka Luknárová, Christian Mertes & Vicente A. Yépez

Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany

Julien Gagneur, Leon Krass & Christian Mertes

Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany

Julien Gagneur & Leon Krass

Department of Clinical Genetics, CHI, Dublin, Ireland

Marie Greally

Clinic of Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany

Bodo Grimbacher

DZIF–German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany

Bodo Grimbacher

CIBSS–Centre for Integrative Biological Signalling Studies, Albert-Ludwigs-University of Freiburg, Freiburg, Germany

Bodo Grimbacher

Neurofarba Department, University of Florence, Florence, Italy

Renzo Guerrini

Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland

Peter Hackman, Mridul Johari, Marco Savarese & Bjarne Udd

Department of Neurology, Ghent University Hospital, Ghent, Belgium

Dimitri Hemelsoet

Institute of Systems Motor Science, University of Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany

Rebecca Herzog, Alexander Münchau & Martje Pauly

Department of Neurology, University Hospital Schleswig Holstein, Ratzeburger Allee 160, 23538, Lübeck, Germany

Rebecca Herzog

Medizinische Klinik und Poliklinik IV–Campus Innenstadt, Klinikum der Universität München, Munich, Germany

Elke Holinski-Feder & Verena Steinke-Lange

Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands

Manon Huibers & Lars van der Veken

Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy

Michele Iacomino, Antonella Riva, Paolo Scudieri & Federico Zara

Clinical Bioinformatics, IRCCS Istituto Giannina Gaslini, Genoa, Italy

Michele Iacomino & Paolo Uva

Neurochemistry and Biomarker Unit, 1st Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece

Elisabeth Kapaki

Institute of Human Genetics, University Hospital of Cologne, University Cologne, Kerpener Str. 34, 50931, Cologne, Germany

Mert Karakaya & Brunhilde Wirth

Center for Molecular Medicine Cologne, University of Cologne, 50931, Cologne, Germany

Mert Karakaya & Brunhilde Wirth

Institute for Genetics, University of Cologne, 50674, Cologne, Germany

Mert Karakaya & Brunhilde Wirth

Center for Rare Diseases Cologne, University Hospital Cologne, 50937, Cologne, Germany

Mert Karakaya & Brunhilde Wirth

Pediatric Neurology Unit, University Hospitals, Geneva, Switzerland

Christian Korff

Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, F-33000, Bordeaux, France

Didier Lacombe & Caroline Rooryck

MGZ - Medical Genetics Center, Munich, Germany

Andreas Laner

Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands

Helen Leavis

Institute of Pathology and Genetics, Charleroi, Belgium

Damien Lederer & Sandrine Mary

Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany

Hanns Lochmüller

Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain

Hanns Lochmüller

Institut de Neurociències, Universitat Autònoma de Barcelona, Barcelona, Spain

Alfons Macaya

Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia

Ales Maver & Borut Peterlin

Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg

Patrick May

Département de Médecine, Université de Namur (Unamur), Namur, Belgium

Isabelle Maystadt

Center for Rare Diseases, University Hospital Schleswig-Holstein, Ratzeburger Allee 160, 23562, Lübeck, Germany

Alexander Münchau

Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain

Andrés Nascimento Osorio & Daniel Natera de Benito

Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain

Andrés Nascimento Osorio & Daniel Natera de Benito

East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

Catarina Olimpio & Katherine Schon

Department of Paediatrics, University of Cambridge, Cambridge, UK

Thiloka Ratnaike

Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Senese, Italy

Alessandra Renieri

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy

Antonella Riva, Marcello Scala, Paolo Scudieri, Pasquale Striano & Federico Zara

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Children’s Hospital University of Essen, Essen, Germany

Andreas Roos

Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technical University Dresden, Dresden, Germany

Andreas Rump & Evelin Schröck

Center for Personalized Oncology, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany

Andreas Rump

Pediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

Marcello Scala

1sts Department of Neurology, Aristotle University of Thessaloniki, University General Hospital of Thessaloniki, AHEPA, Thessaloniki, Greece

Martha Spilioti

IRCCS Istituto Giannina Gaslini, Genoa, Italy

Pasquale Striano

Human Genetics Department, Saint-Luc University Hospital, Université Catholique de Louvain, Brussels, Belgium

Yves Sznajer

Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Bordeaux – Hôpital Pellegrin, Place Amélie Raba Léon, 33076, Bordeaux, Cedex, France

Aurelien Trimouille

Tampere Neuromuscular Center, Tampere, Finland

Bjarne Udd

Vasa Central Hospital, Vaasa, Finland

Bjarne Udd

Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands

Joris van Montfrans & Erika Van Nieuwenhove

Conceptualisation—G.D., B.Y., J.G-P., E.dB., N.S., L.VdV., I.P., L.J., E.B., S.B., C.G., A.H., S.O., R.dV., K.L., C.O., A.T., L.E.L.M.V., S.L. Software – G.D., I.P., L.J., E.B., K.S., S.L. Methodology— G.D., B.Y., J.G-P., E.dB., N.S., L.VdV., I.P., L.J., F.M., E.B., G.B., S.B., C.G., A.H., S.O., R.dV., K.L., C.O., A.T., L.E.L.M.V., S.L. Data curation—G.D., B.Y., I.P., L.J., F.M., E.B., G.B., K.S., S.L. Formal analysis—G.D., B.Y., J.G-P., E.dB., N.S., L.VdV., I.P., L.J., F.M., E.B., S.L. Visualisation—G.D., B.Y., I.P., E.B., S.L. Validation—J.G-P., E.dB., N.S., L.VdV., S.B., C.G., A.H., S.O., R.dV., K.L., C.O., A.T., L.E.L.M.V. Writing (Original Draft)—G.D., B.Y., I.P., E.B., S.L. Supervision—S.B., C.G., A.H., S.O., R.dV., K.L., C.O., A.T., L.E.L.M.V. Writing—Review & Editing—all authors. Solve-RD consortium: contribution of data, expertise and infrastructure.