换一批The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
第一作者：
Vicente A,Yépez
第一单位：
School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.
作者：
Vicente A,Yépez [1]
;
German,Demidov [2]
;
Kornelia,Ellwanger [2]
;
Steven,Laurie [3]
;
Rebeka,Luknárová [1]
;
Midhuna Immaculate,Joseph Maran [4]
;
Thomas,Hentrich [4]
;
Lydia,Sagath [5]
;
Bart,van der Sanden [5]
;
Galuh,Astuti [5]
;
Kornelia,Neveling [5]
;
Laura,Batlle-Masó [6]
;
Danique,Beijer [7]
;
Felix,Brechtmann [1]
;
Andrés,Caballero-Oteyza [8]
;
Marc,Dabad [3]
;
Anne-Sophie,Denommé-Pichon [9]
;
Cenna,Doornbos [10]
;
Zakaria,Eddafir [11]
;
Berta,Estévez-Arias [12]
;
Ozge Aksel,Kilicarslan [13]
;
Ingrid H M,Kolen [14]
;
Leon,Kraß [15]
;
Katja,Lohmann [16]
;
Shubhankar,Londhe [17]
;
Estrella,López-Martín [18]
;
Kars,Maassen [19]
;
William,Macken [20]
;
Beatriz,Martínez-Delgado [21]
;
Davide,Mei [22]
;
Christian,Mertes [23]
;
Raffaella,Minardi [24]
;
Heba,Morsy [25]
;
Juliane S,Mueller [26]
;
Daniel,Natera-de Benito [27]
;
Isabelle,Nelson [28]
;
Machteld M,Oud [5]
;
Ida,Paramonov [3]
;
Daniel,Picó [3]
;
Davide,Piscia [3]
;
Kiran,Polavarapu [13]
;
Emanuele,Raineri [29]
;
Marco,Savarese [30]
;
Noor,Smal [31]
;
Marloes,Steehouwer [5]
;
Wouter,Steyaert [32]
;
Morris A,Swertz [33]
;
Mirja,Thomsen [16]
;
Ana,Töpf [34]
;
Liedewei,Van de Vondel [35]
;
Gerben,van der Vries [33]
;
Antonio,Vitobello [9]
;
Carlo,Wilke [36]
;
Birte,Zurek [2]
;
Solve-RD DITF-EPICARE [10]
;
Solve-RD DITF-ITHACA [3]
;
Solve-RD DITF-EURO-NMD [37]
;
Solve-RD DITF-RITA [32]
;
Solve-RD DITF-RND [4]
;
Solve-RD consortium [38]
;
Peter-Bram,T' Hoen [3]
;
Leslie,Matalonga [39]
;
Lisenka E L M,Vissers [40]
;
Christian,Gilissen [41]
;
Julia,Schulze-Hentrich ;
Sergi,Beltran ;
Anna,Esteve-Codina ;
Alexander,Hoischen ;
Julien,Gagneur ;
Holm,Graessner
作者单位：
School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.
[1]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
[2]
Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.;Universitat de Barcelona, Barcelona, Spain.
[3]
Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.
[4]
Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.
[5]
Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.;Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital, Barcelona, Spain.
[6]
Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
[7]
RESIST-Cluster of Excellence 2155 to Hannover Medical School, Satellite Center Freiburg, Freiburg, Germany.;Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany.
[8]
Medical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France.;Unit 1231 GAD Team, Inserm, Burgundy Europe University, Dijon, France.
[9]
Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.;Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.
[10]
Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.;Applied Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
[11]
Neuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.;Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
[12]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
[13]
Division of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Faculty of Medicine, Heidelberg University Hospital, Heidelberg, Germany.
[14]
School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.;Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.;Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany.
[15]
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
[16]
School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.;Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany.;Helmholtz Association, Munich School for Data Science, Munich, Germany.
[17]
Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain.
[18]
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
[19]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
[20]
Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain.;CIBER of Rare Diseases (CIBERER), Madrid, Spain.
[21]
Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.
[22]
School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.;Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
[23]
IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy.
[24]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.;Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
[25]
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.
[26]
Neuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.;Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.;Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
[27]
Centre de Recherche en Myologie, Institut de Myologie, Inserm, Sorbonne Université, Paris, France.
[28]
Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
[29]
Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.
[30]
VIB-CMN, Applied and Translational Neurogenomics Group, University of Antwerp, Antwerp, Belgium.
[31]
Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.;Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.
[32]
Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
[33]
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[34]
Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.;Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.;Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
[35]
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.;German Center for Neurodegenerative Diseases, Tübingen, Germany.
[36]
Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.;Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
[37]
Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.;Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.
[38]
Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.;Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, the Netherlands.
[39]
School of Computation, Information and Technology, Technical University of Munich, Garching, Germany. gagneur@in.tum.de.;Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. gagneur@in.tum.de.;Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany. gagneur@in.tum.de.
[40]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.;Centre for Rare Diseases, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.
[41]
DOI
10.1038/s41588-025-02290-3
PMID
40926087
发布时间
2026-01-06
基金项目
779257/EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020)
441914366/Deutsche Forschungsgemeinschaft (German Research Foundation)
FI-1 00075/Generalitat de Catalunya (Government of Catalonia)
09150182310053/ZonMw (Netherlands Organisation for Health Research and Development)
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Nature genetics
Nature genetics
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