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

Vicente A. Yépez, Rebeka Luknárová, Felix Brechtmann, Leon Kraß, Shubhankar Londhe, Christian Mertes & Julien Gagneur

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

German Demidov, Kornelia Ellwanger, Birte Zurek & Holm Graessner

Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain

Steven Laurie, Marc Dabad, Ida Paramonov, Daniel Picó, Davide Piscia, Emanuele Raineri, Leslie Matalonga, Sergi Beltran & Anna Esteve-Codina

Universitat de Barcelona, Barcelona, Spain

Steven Laurie, Marc Dabad, Ida Paramonov, Daniel Picó, Davide Piscia, Leslie Matalonga & Anna Esteve-Codina

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

Midhuna Immaculate Joseph Maran, Thomas Hentrich & Julia Schulze-Hentrich

Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands

Lydia Sagath, Bart van der Sanden, Galuh Astuti, Kornelia Neveling, Machteld M. Oud, Marloes Steehouwer, Wouter Steyaert, Lisenka E. L. M. Vissers, Christian Gilissen & Alexander Hoischen

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

Laura Batlle-Masó

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

Laura Batlle-Masó

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

Danique Beijer

RESIST—Cluster of Excellence 2155 to Hannover Medical School, Satellite Center Freiburg, Freiburg, Germany

Andrés Caballero-Oteyza

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany

Andrés Caballero-Oteyza

Medical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France

Anne-Sophie Denommé-Pichon & Antonio Vitobello

Unit 1231 GAD Team, Inserm, Burgundy Europe University, Dijon, France

Anne-Sophie Denommé-Pichon & Antonio Vitobello

Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands

Cenna Doornbos, Wouter Steyaert, Peter-Bram t’ Hoen & Christian Gilissen

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

Cenna Doornbos & Peter-Bram t’ Hoen

Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium

Zakaria Eddafir

Applied Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium

Zakaria Eddafir

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

Berta Estévez-Arias & Daniel Natera-de Benito

Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain

Berta Estévez-Arias

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

Ozge Aksel Kilicarslan & Kiran Polavarapu

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

Ingrid H. M. Kolen

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

Leon Kraß, Christian Mertes & Julien Gagneur

Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany

Leon Kraß, Shubhankar Londhe & Julien Gagneur

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany

Katja Lohmann & Mirja Thomsen

Helmholtz Association, Munich School for Data Science, Munich, Germany

Shubhankar Londhe

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

Estrella López-Martín & Beatriz Martínez-Delgado

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

Kars Maassen

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

William Macken & Heba Morsy

CIBER of Rare Diseases (CIBERER), Madrid, Spain

Beatriz Martínez-Delgado

Department of Neuroscience and Medical Genetics, Meyer Children’s Hospital IRCCS, Florence, Italy

Davide Mei

IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy

Raffaella Minardi

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

Heba Morsy

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

Juliane S. Mueller

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

Daniel Natera-de Benito

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

Daniel Natera-de Benito

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

Isabelle Nelson

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

Marco Savarese

VIB-CMN, Applied and Translational Neurogenomics Group, University of Antwerp, Antwerp, Belgium

Noor Smal

Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands

Morris A. Swertz & Gerben van der Vries

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

Ana Töpf

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

Liedewei Van de Vondel

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

Liedewei Van de Vondel

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

Liedewei Van de Vondel

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

Carlo Wilke

German Center for Neurodegenerative Diseases, Tübingen, Germany

Carlo Wilke

Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands

Lisenka E. L. M. Vissers

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

Sergi Beltran

Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, the Netherlands

Alexander Hoischen

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

Holm Graessner

Led data analysis: V.A.Y., G.D., S. Laurie, R.L., M.I.J.M., T.H., L.S., B.v.d.S., G.A., K.N., F.B., C.D., I.P., E.R., M. Steehouwer, W.S., P.-B.t’H., L.M. and A.E.-C. Contributed to data analysis and/or clinical and genomic interpretation: L.B.-M., D.B., A.C.-O., A.-S.D.-P., Z.E., B.E.-A., O.A.K., I.H.M.K., L.K., K.L., E.L.-M., K.M., W.M., B.M.-D., D.M., R.M., H.M., J.S.M., D.N.-d.B., I.N., M.M.O., K.P., M. Savarese, N.S., M.T., A.T., L.V.d.V., A.V. and C.W. Contributed to data processing and infrastructure: M.D., S. Londhe, C.M., D. Picó, D. Piscia, M.A.S. and G.v.d.V. Contributed to project coordination: K.E. and B.Z. Contributed to writing the manuscript: V.A.Y., G.D., K.E., S. Laurie, R.L., L.M., S.B., A.E.-C., A.H., J.G. and H.G. Supervised and designed the study: V.A.Y., G.D., S. Laurie, L.E.L.M.V., C.G., J.S.-H., S.B., A.E.-C., A.H., J.G. and H.G.