换一批Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
第一作者：
Steven,Laurie
第一单位：
Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.;Universitat de Barcelona (UB), Barcelona, Spain.
作者：
Steven,Laurie [1]
;
Wouter,Steyaert [2]
;
Elke,de Boer [3]
;
Kiran,Polavarapu [4]
;
Nika,Schuermans [5]
;
Anna K,Sommer [6]
;
German,Demidov [7]
;
Kornelia,Ellwanger [7]
;
Ida,Paramonov [1]
;
Coline,Thomas [8]
;
Stefan,Aretz [9]
;
Jonathan,Baets [10]
;
Elisa,Benetti [11]
;
Gemma,Bullich [1]
;
Patrick F,Chinnery [12]
;
Jill,Clayton-Smith [13]
;
Enzo,Cohen [14]
;
Daniel,Danis [15]
;
Jean-Madeleine,de Sainte Agathe [16]
;
Anne-Sophie,Denommé-Pichon [17]
;
Jordi,Diaz-Manera [18]
;
Stephanie,Efthymiou [19]
;
Laurence,Faivre [20]
;
Marcos,Fernandez-Callejo [1]
;
Mallory,Freeberg [8]
;
José,Garcia-Pelaez [21]
;
Lena,Guillot-Noel [22]
;
Tobias B,Haack [7]
;
Mike,Hanna [23]
;
Holger,Hengel [24]
;
Rita,Horvath [25]
;
Henry,Houlden [19]
;
Adam,Jackson [13]
;
Lennart,Johansson [26]
;
Mridul,Johari [27]
;
Erik-Jan,Kamsteeg [28]
;
Melanie,Kellner [24]
;
Tjitske,Kleefstra [29]
;
Didier,Lacombe [30]
;
Hanns,Lochmüller [31]
;
Estrella,López-Martín [32]
;
Alfons,Macaya [33]
;
Anna,Marcé-Grau [33]
;
Aleš,Maver [34]
;
Heba,Morsy [35]
;
Francesco,Muntoni [36]
;
Francesco,Musacchia [37]
;
Isabelle,Nelson [14]
;
Vincenzo,Nigro [37]
;
Catarina,Olimpio [38]
;
Carla,Oliveira [39]
;
Jaroslava,Paulasová Schwabová [40]
;
Martje G,Pauly [41]
;
Borut,Peterlin [34]
;
Sophia,Peters [6]
;
Rolph,Pfundt [3]
;
Giulio,Piluso [42]
;
Davide,Piscia [1]
;
Manuel,Posada [32]
;
Selina,Reich [24]
;
Alessandra,Renieri [43]
;
Lukas,Ryba [44]
;
Karolis,Šablauskas [45]
;
Marco,Savarese [27]
;
Ludger,Schöls [24]
;
Leon,Schütz [7]
;
Verena,Steinke-Lange [46]
;
Giovanni,Stevanin [22]
;
Volker,Straub [18]
;
Marc,Sturm [7]
;
Morris A,Swertz [26]
;
Marco,Tartaglia [47]
;
Iris B A W,Te Paske [2]
;
Rachel,Thompson [4]
;
Annalaura,Torella [37]
;
Christina,Trainor [18]
;
Bjarne,Udd [48]
;
Liedewei,Van de Vondel [49]
;
Bart,van de Warrenburg [50]
;
Jeroen,van Reeuwijk [3]
;
Jana,Vandrovcova [19]
;
Antonio,Vitobello [17]
;
Janet,Vos [2]
;
Emílie,Vyhnálková [44]
;
Robin,Wijngaard [2]
;
Carlo,Wilke [24]
;
Doreen,William [51]
;
Jishu,Xu [52]
;
Burcu,Yaldiz [28]
;
Luca,Zalatnai [1]
;
Birte,Zurek [7]
;
Solve-RD DITF-GENTURIS [53]
;
Solve-RD DITF-ITHACA [14]
;
Solve-RD DITF-EURO-NMD [2]
;
Solve-RD DITF-RND [54]
;
Solve-RD consortium [2]
;
Anthony J,Brookes [55]
;
Teresinha,Evangelista [54]
;
Christian,Gilissen [24]
;
Holm,Graessner [24]
;
Nicoline,Hoogerbrugge [56]
;
Stephan,Ossowski [1]
;
Olaf,Riess [57]
;
Rebecca,Schüle [58]
;
Matthis,Synofzik [2]
;
Alain,Verloes [18]
;
Leslie,Matalonga [3]
;
Han G,Brunner [59]
;
Katja,Lohmann [60]
;
Richarda M,de Voer ;
Ana,Töpf ;
Lisenka E L M,Vissers ;
Sergi,Beltran ;
Alexander,Hoischen
作者单位：
Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.;Universitat de Barcelona (UB), Barcelona, Spain.
[1]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.;Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.
[2]
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.
[3]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
[4]
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.
[5]
Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
[6]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
[7]
European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.
[8]
Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.;Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
[9]
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.
[10]
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.;Medical Genetics, University of Siena, Siena, Italy.
[11]
Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.;Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
[12]
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.
[13]
Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.
[14]
Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
[15]
Department of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.
[16]
University of Burgundy, Dijon, France.;Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.
[17]
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[18]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
[19]
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.
[20]
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.
[21]
Institut du Cerveau, Sorbonne University, Paris, France.
[22]
MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK.
[23]
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.;German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
[24]
Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
[25]
Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
[26]
Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.
[27]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
[28]
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.
[29]
MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux, France.;Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
[30]
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.
[31]
Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.
[32]
Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
[33]
Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
[34]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.;Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
[35]
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.;NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
[36]
Dipartimento di Medicina di Precisione, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.;Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
[37]
Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.;East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
[38]
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.
[39]
Centre of Hereditary Ataxia, Department of Neurology, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
[40]
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.
[41]
Dipartimento di Medicina di Precisione, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.
[42]
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.
[43]
Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
[44]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.;Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania.
[45]
Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany.;MGZ - Medical Genetics Center, Munich, Germany.
[46]
Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
[47]
Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.;Tampere Neuromuscular Center, Tampere, Finland.;Vasa Central Hospital, Vaasa, Finland.
[48]
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.
[49]
Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.;Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.
[50]
Institute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.;National Center for Tumor Diseases (NCT), Dresden, Germany.
[51]
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.
[52]
Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
[53]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.;Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
[54]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.;NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen, Germany.
[55]
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.
[56]
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.
[57]
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
[58]
Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain. sergi.beltran@cnag.eu.;Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain. sergi.beltran@cnag.eu.
[59]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.;Radboud Institute for Medical Innovation, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.;Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.
[60]
DOI
10.1038/s41591-025-03754-z
PMID
40537530
发布时间
2025-08-25
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