第一单位：
CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
作者：
Leslie,Matalonga [1]
;
Carles,Hernández-Ferrer [1]
;
Davide,Piscia [1]
;
Solve-RD SNV-indel working group [2]
;
Rebecca,Schüle [3]
;
Matthis,Synofzik [4]
;
Ana,Töpf [5]
;
Lisenka E L M,Vissers [6]
;
Richarda,de Voer [1]
;
Solve-RD DITF-GENTURIS [1]
;
Solve-RD DITF-ITHACA [1]
;
Solve-RD DITF-euroNMD [1]
;
Solve-RD DITF-RND [1]
;
Raul,Tonda [1]
;
Steven,Laurie [1]
;
Marcos,Fernandez-Callejo [1]
;
Daniel,Picó [1]
;
Carles,Garcia-Linares [1]
;
Anastasios,Papakonstantinou [7]
;
Alberto,Corvó [8]
;
Ricky,Joshi [9]
;
Hector,Diez ;
Ivo,Gut ;
Alexander,Hoischen ;
Holm,Graessner ;
Sergi,Beltran ;
Solve-RD Consortium
作者单位：
CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
[1]
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
[2]
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.;German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
[3]
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[4]
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.
[5]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.;Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
[6]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.;Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.;Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.
[7]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.;European Reference Network for Rare Neurological Diseases, Tübingen, Germany.
[8]
CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain. sergi.beltran@cnag.crg.eu.;Universitat Pompeu Fabra (UPF), Barcelona, Spain. sergi.beltran@cnag.crg.eu.;Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain. sergi.beltran@cnag.crg.eu.
[9]
DOI
10.1038/s41431-021-00934-6
PMID
34393220
发布时间
2021-10-06
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