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

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Title: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Authors: Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Schuermans N; Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Sommer AK; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Paramonov I; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Thomas C; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK., Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Benetti E; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy., Bullich G; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., Clayton-Smith J; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Cohen E; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France., Danis D; Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., de Sainte Agathe JM; Department of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., Denommé-Pichon AS; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France., Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Faivre L; University of Burgundy, Dijon, France.; Genetics Department, Dijon University Hospital, Dijon, France.; Centre of Reference for Rare Diseases: Development Disorders and Malformation Syndromes, Dijon University Hospital, Dijon, France.; University of Burgundy-Franche Comté, Dijon, France.; GIMI institute, Dijon University Hospital, Dijon, France., Fernandez-Callejo M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Freeberg M; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK., Garcia-Pelaez J; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal., Guillot-Noel L; Institut du Cerveau, Sorbonne University, Paris, France., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hanna M; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK., Hengel H; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Johansson L; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Johari M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kellner M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands., Lacombe D; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., Lochmüller H; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada., López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain., Macaya A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain., Marcé-Grau A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain., Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK., Musacchia F; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Nelson I; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France., Nigro V; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Olimpio C; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Oliveira C; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Institut du Cerveau, Sorbonne University, Paris, France., Paulasová Schwabová J; Centre of Hereditary Ataxia, Department of Neurology, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Pauly MG; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Peters S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Piluso G; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Piscia D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Posada M; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain., Reich S; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Renieri A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Ryba L; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Šablauskas K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania., Savarese M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland., Schöls L; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Steinke-Lange V; Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ - Medical Genetics Center, Munich, Germany., Stevanin G; Institut du Cerveau, Sorbonne University, Paris, France., Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Swertz MA; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Te Paske IBAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Thompson R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Trainor C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Udd B; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium., van de Warrenburg B; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands., van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Vitobello A; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France., Vos J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Vyhnálková E; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Wilke C; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., William D; Institute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; National Center for Tumor Diseases (NCT), Dresden, Germany., Xu J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Zalatnai L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Brookes AJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Evangelista T; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Schüle R; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Verloes A; Dept of Genetics, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert DEBRE University Hospital, Paris, France.; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert DEBRE, Paris, France., Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Development and Oncology, University of Maastricht, Maastricht, the Netherlands., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.
Corporate Authors: Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RND, Solve-RD consortium
Source: Nature medicine [Nat Med] 2025 Feb; Vol. 31 (2), pp. 478-489. Date of Electronic Publication: 2025 Jan 17.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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Items – Name: Title
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  Data: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Laurie+S%22">Laurie S</searchLink>; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Steyaert+W%22">Steyaert W</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Boer+E%22">de Boer E</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Polavarapu+K%22">Polavarapu K</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Schuermans+N%22">Schuermans N</searchLink>; Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Sommer+AK%22">Sommer AK</searchLink>; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Demidov+G%22">Demidov G</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Ellwanger+K%22">Ellwanger K</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Paramonov+I%22">Paramonov I</searchLink>; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Thomas+C%22">Thomas C</searchLink>; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Aretz+S%22">Aretz S</searchLink>; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Baets+J%22">Baets J</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Benetti+E%22">Benetti E</searchLink>; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Bullich+G%22">Bullich G</searchLink>; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Chinnery+PF%22">Chinnery PF</searchLink>; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Clayton-Smith+J%22">Clayton-Smith J</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Cohen+E%22">Cohen E</searchLink>; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Danis+D%22">Danis D</searchLink>; Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.<br /><searchLink fieldCode="AU" term="%22de+Sainte+Agathe+JM%22">de Sainte Agathe JM</searchLink>; Department of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Denommé-Pichon+AS%22">Denommé-Pichon AS</searchLink>; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Diaz-Manera+J%22">Diaz-Manera J</searchLink>; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; University of Burgundy, Dijon, France.; Genetics Department, Dijon University Hospital, Dijon, France.; Centre of Reference for Rare Diseases: Development Disorders and Malformation Syndromes, Dijon University Hospital, Dijon, France.; University of Burgundy-Franche Comté, Dijon, France.; GIMI institute, Dijon University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Fernandez-Callejo+M%22">Fernandez-Callejo M</searchLink>; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Freeberg+M%22">Freeberg M</searchLink>; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Garcia-Pelaez+J%22">Garcia-Pelaez J</searchLink>; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Guillot-Noel+L%22">Guillot-Noel L</searchLink>; Institut du Cerveau, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hanna+M%22">Hanna M</searchLink>; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Hengel+H%22">Hengel H</searchLink>; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Horvath+R%22">Horvath R</searchLink>; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Jackson+A%22">Jackson A</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Johansson+L%22">Johansson L</searchLink>; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Johari+M%22">Johari M</searchLink>; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Kamsteeg+EJ%22">Kamsteeg EJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kellner+M%22">Kellner M</searchLink>; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lacombe+D%22">Lacombe D</searchLink>; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Lochmüller+H%22">Lochmüller H</searchLink>; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22López-Martín+E%22">López-Martín E</searchLink>; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Macaya+A%22">Macaya A</searchLink>; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Marcé-Grau+A%22">Marcé-Grau A</searchLink>; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Maver+A%22">Maver A</searchLink>; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Morsy+H%22">Morsy H</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.<br /><searchLink fieldCode="AU" term="%22Muntoni+F%22">Muntoni F</searchLink>; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.<br /><searchLink fieldCode="AU" term="%22Musacchia+F%22">Musacchia F</searchLink>; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Nelson+I%22">Nelson I</searchLink>; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nigro+V%22">Nigro V</searchLink>; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Olimpio+C%22">Olimpio C</searchLink>; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Oliveira+C%22">Oliveira C</searchLink>; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Institut du Cerveau, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Paulasová+Schwabová+J%22">Paulasová Schwabová J</searchLink>; Centre of Hereditary Ataxia, Department of Neurology, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Pauly+MG%22">Pauly MG</searchLink>; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Peterlin+B%22">Peterlin B</searchLink>; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Peters+S%22">Peters S</searchLink>; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Piluso+G%22">Piluso G</searchLink>; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Piscia+D%22">Piscia D</searchLink>; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Posada+M%22">Posada M</searchLink>; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Reich+S%22">Reich S</searchLink>; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Renieri+A%22">Renieri A</searchLink>; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Ryba+L%22">Ryba L</searchLink>; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Šablauskas+K%22">Šablauskas K</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22Savarese+M%22">Savarese M</searchLink>; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Schöls+L%22">Schöls L</searchLink>; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Schütz+L%22">Schütz L</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Steinke-Lange+V%22">Steinke-Lange V</searchLink>; Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ - Medical Genetics Center, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Stevanin+G%22">Stevanin G</searchLink>; Institut du Cerveau, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Sturm+M%22">Sturm M</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Swertz+MA%22">Swertz MA</searchLink>; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Te+Paske+IBAW%22">Te Paske IBAW</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Thompson+R%22">Thompson R</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Torella+A%22">Torella A</searchLink>; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Trainor+C%22">Trainor C</searchLink>; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Udd+B%22">Udd B</searchLink>; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland.<br /><searchLink fieldCode="AU" term="%22Van+de+Vondel+L%22">Van de Vondel L</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22van+de+Warrenburg+B%22">van de Warrenburg B</searchLink>; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Reeuwijk+J%22">van Reeuwijk J</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vandrovcova+J%22">Vandrovcova J</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Vos+J%22">Vos J</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vyhnálková+E%22">Vyhnálková E</searchLink>; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Wijngaard+R%22">Wijngaard R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Wilke+C%22">Wilke C</searchLink>; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22William+D%22">William D</searchLink>; Institute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; National Center for Tumor Diseases (NCT), Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Xu+J%22">Xu J</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Yaldiz+B%22">Yaldiz B</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Zalatnai+L%22">Zalatnai L</searchLink>; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Zurek+B%22">Zurek B</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Brookes+AJ%22">Brookes AJ</searchLink>; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.<br /><searchLink fieldCode="AU" term="%22Evangelista+T%22">Evangelista T</searchLink>; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Graessner+H%22">Graessner H</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hoogerbrugge+N%22">Hoogerbrugge N</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ossowski+S%22">Ossowski S</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Riess+O%22">Riess O</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Schüle+R%22">Schüle R</searchLink>; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Synofzik+M%22">Synofzik M</searchLink>; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Verloes+A%22">Verloes A</searchLink>; Dept of Genetics, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert DEBRE University Hospital, Paris, France.; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert DEBRE, Paris, France.<br /><searchLink fieldCode="AU" term="%22Matalonga+L%22">Matalonga L</searchLink>; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Brunner+HG%22">Brunner HG</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Development and Oncology, University of Maastricht, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lohmann+K%22">Lohmann K</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22de+Voer+RM%22">de Voer RM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Töpf+A%22">Töpf A</searchLink>; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Vissers+LELM%22">Vissers LELM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Beltran+S%22">Beltran S</searchLink>; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Hoischen+A%22">Hoischen A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.
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  Data: <searchLink fieldCode="JN" term="%229502015%22">Nature medicine</searchLink> [Nat Med] 2025 Feb; Vol. 31 (2), pp. 478-489. <i>Date of Electronic Publication: </i>2025 Jan 17.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Company%22">Nature Publishing Company </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9502015 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1546-170X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210788956%22">10788956 </searchLink><i>NLM ISO Abbreviation: </i>Nat Med <i>Subsets: </i>MEDLINE
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      – TitleFull: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
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            – D: 01
              M: 02
              Text: 2025 Feb
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1546-170X
          Numbering:
            – Type: volume
              Value: 31
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Nature medicine
              Type: main
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