{"id":"https://openalex.org/W4392238947","doi":"https://doi.org/10.1038/s41467-024-45099-0","title":"Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes","display_name":"Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes","publication_year":2024,"publication_date":"2024-02-28","ids":{"openalex":"https://openalex.org/W4392238947","doi":"https://doi.org/10.1038/s41467-024-45099-0","pmid":"https://pubmed.ncbi.nlm.nih.gov/38418480","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10902324"},"language":"en","primary_location":{"id":"doi:10.1038/s41467-024-45099-0","doi":"https://doi.org/10.1038/s41467-024-45099-0","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-024-45099-0","pdf_url":"https://www.nature.com/articles/s41467-024-45099-0.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/s41467-024-45099-0.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5075104806","display_name":"Iker N\u00fa\u00f1ez\u2010Carpintero","orcid":"https://orcid.org/0000-0002-2637-5236","observed_orcids":["https://orcid.org/0000-0002-2637-5236"]},"institutions":[{"id":"https://openalex.org/I2799803557","display_name":"Barcelona Supercomputing Center","ror":"https://ror.org/05sd8tv96","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2799803557","https://openalex.org/I9617848"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Iker N\u00fa\u00f1ez-Carpintero","raw_affiliation_strings":["Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain"],"raw_orcid":"https://orcid.org/0000-0002-2637-5236","affiliations":[{"raw_affiliation_string":"Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain","institution_ids":["https://openalex.org/I2799803557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021360906","display_name":"Maria Rigau","orcid":"https://orcid.org/0000-0002-6501-7212","observed_orcids":["https://orcid.org/0000-0002-6501-7212"]},"institutions":[{"id":"https://openalex.org/I2799803557","display_name":"Barcelona Supercomputing Center","ror":"https://ror.org/05sd8tv96","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2799803557","https://openalex.org/I9617848"]},{"id":"https://openalex.org/I2801748203","display_name":"Hammersmith Hospital","ror":"https://ror.org/05jg8yp15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I153355300","https://openalex.org/I2801748203"]},{"id":"https://openalex.org/I4210161592","display_name":"MRC London Institute of Medical Sciences","ror":"https://ror.org/05p1n6x86","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210161592","https://openalex.org/I47508984"]},{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["ES","GB"],"is_corresponding":false,"raw_author_name":"Maria Rigau","raw_affiliation_strings":["Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain","Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London, W12 0NN, UK","MRC London Institute of Medical Sciences, Du Cane Road, London, W12 0NN, UK"],"raw_orcid":"https://orcid.org/0000-0002-6501-7212","affiliations":[{"raw_affiliation_string":"Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain","institution_ids":["https://openalex.org/I2799803557"]},{"raw_affiliation_string":"Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London, W12 0NN, UK","institution_ids":["https://openalex.org/I2801748203","https://openalex.org/I47508984"]},{"raw_affiliation_string":"MRC London Institute of Medical Sciences, Du Cane Road, London, W12 0NN, UK","institution_ids":["https://openalex.org/I4210161592"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024500734","display_name":"Mattia Bosio","orcid":"https://orcid.org/0000-0001-8989-4220","observed_orcids":["https://orcid.org/0000-0001-8989-4220"]},"institutions":[{"id":"https://openalex.org/I2799803557","display_name":"Barcelona Supercomputing Center","ror":"https://ror.org/05sd8tv96","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2799803557","https://openalex.org/I9617848"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mattia Bosio","raw_affiliation_strings":["Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain","Coordination Unit Spanish National Bioinformatics Institute (INB/ELIXIR-ES), Barcelona Supercomputing Center, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain","institution_ids":["https://openalex.org/I2799803557"]},{"raw_affiliation_string":"Coordination Unit Spanish National Bioinformatics Institute (INB/ELIXIR-ES), Barcelona Supercomputing Center, Barcelona, Spain","institution_ids":["https://openalex.org/I2799803557"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Emily O\u2019Connor","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I153718931","display_name":"University of Ottawa","ror":"https://ror.org/03c4mmv16","country_code":"CA","type":"education","lineage":["https://openalex.org/I153718931"]},{"id":"https://openalex.org/I2799330578","display_name":"Children's Hospital of Eastern Ontario","ror":"https://ror.org/05nsbhw27","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2799330578"]},{"id":"https://openalex.org/I4401200329","display_name":"uOttawa Brain and Mind Research Institute","ror":"https://ror.org/036s2ns10","country_code":"CA","type":"facility","lineage":["https://openalex.org/I153718931","https://openalex.org/I4401200329"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Emily O\u2019Connor","raw_affiliation_strings":["Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada","Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada","institution_ids":["https://openalex.org/I153718931","https://openalex.org/I4401200329"]},{"raw_affiliation_string":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada","institution_ids":["https://openalex.org/I2799330578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027733585","display_name":"Sally Spendiff","orcid":"https://orcid.org/0000-0001-9579-3514","observed_orcids":["https://orcid.org/0000-0001-9579-3514"]},"institutions":[{"id":"https://openalex.org/I2799330578","display_name":"Children's Hospital of Eastern Ontario","ror":"https://ror.org/05nsbhw27","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2799330578"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Sally Spendiff","raw_affiliation_strings":["Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada","institution_ids":["https://openalex.org/I2799330578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047456769","display_name":"Yoshiteru Azuma","orcid":"https://orcid.org/0000-0002-5363-5638","observed_orcids":["https://orcid.org/0000-0002-5363-5638"]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]},{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshiteru Azuma","raw_affiliation_strings":["Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan","Department of Pediatrics, Aichi Medical University, Nagakute, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]},{"raw_affiliation_string":"Department of Pediatrics, Aichi Medical University, Nagakute, Japan","institution_ids":["https://openalex.org/I16528096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071166764","display_name":"Ana T\u00f6pf","orcid":"https://orcid.org/0000-0002-9227-2526","observed_orcids":["https://orcid.org/0000-0002-9227-2526"]},"institutions":[{"id":"https://openalex.org/I2801663869","display_name":"Newcastle upon Tyne Hospitals NHS Foundation Trust","ror":"https://ror.org/05p40t847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801663869"]},{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ana Topf","raw_affiliation_strings":["John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom","Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-9227-2526","affiliations":[{"raw_affiliation_string":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom","institution_ids":["https://openalex.org/I84884186"]},{"raw_affiliation_string":"Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom","institution_ids":["https://openalex.org/I2801663869"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050230263","display_name":"Rachel Thompson","orcid":"https://orcid.org/0000-0002-6889-0121","observed_orcids":["https://orcid.org/0000-0002-6889-0121"]},"institutions":[{"id":"https://openalex.org/I2799330578","display_name":"Children's Hospital of Eastern Ontario","ror":"https://ror.org/05nsbhw27","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2799330578"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Rachel Thompson","raw_affiliation_strings":["Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada","institution_ids":["https://openalex.org/I2799330578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021033668","display_name":"Peter A.C. \u2019t Hoen","orcid":"https://orcid.org/0000-0003-4450-3112","observed_orcids":["https://orcid.org/0000-0003-4450-3112"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4210109357","display_name":"Radboud Institute for Molecular Life Sciences","ror":"https://ror.org/01yb10j39","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4210109357"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Peter A. C. \u2019t Hoen","raw_affiliation_strings":["Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0003-4450-3112","affiliations":[{"raw_affiliation_string":"Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949","https://openalex.org/I4210109357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082459062","display_name":"Teodora Chamova","orcid":"https://orcid.org/0000-0001-5142-5007","observed_orcids":["https://orcid.org/0000-0001-5142-5007"]},"institutions":[{"id":"https://openalex.org/I2799356449","display_name":"Alexandrovska Hospital","ror":"https://ror.org/04b8y3f13","country_code":"BG","type":"healthcare","lineage":["https://openalex.org/I2799356449"]},{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Teodora Chamova","raw_affiliation_strings":["Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, Alexandrovska University Hospital, Medical University-Sofia, Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, Alexandrovska University Hospital, Medical University-Sofia, Sofia, Bulgaria","institution_ids":["https://openalex.org/I2799356449","https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102783117","display_name":"Ivailo Tournev","orcid":"https://orcid.org/0000-0003-4817-7676","observed_orcids":["https://orcid.org/0000-0003-4817-7676"]},"institutions":[{"id":"https://openalex.org/I122492136","display_name":"New Bulgarian University","ror":"https://ror.org/002qhr126","country_code":"BG","type":"education","lineage":["https://openalex.org/I122492136"]},{"id":"https://openalex.org/I2799356449","display_name":"Alexandrovska Hospital","ror":"https://ror.org/04b8y3f13","country_code":"BG","type":"healthcare","lineage":["https://openalex.org/I2799356449"]},{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Ivailo Tournev","raw_affiliation_strings":["Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, 1618, Bulgaria","Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, Alexandrovska University Hospital, Medical University-Sofia, Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, 1618, Bulgaria","institution_ids":["https://openalex.org/I122492136"]},{"raw_affiliation_string":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, Alexandrovska University Hospital, Medical University-Sofia, Sofia, Bulgaria","institution_ids":["https://openalex.org/I2799356449","https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107841284","display_name":"Velina Guergueltcheva","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I58918642","display_name":"Sofia University \"St. Kliment Ohridski\"","ror":"https://ror.org/02jv3k292","country_code":"BG","type":"education","lineage":["https://openalex.org/I58918642"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Velina Guergueltcheva","raw_affiliation_strings":["Clinic of Neurology, University Hospital Sofiamed, Sofia University St. Kliment Ohridski, Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic of Neurology, University Hospital Sofiamed, Sofia University St. Kliment Ohridski, Sofia, Bulgaria","institution_ids":["https://openalex.org/I58918642"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085903199","display_name":"Steven Laurie","orcid":"https://orcid.org/0000-0003-3913-5829","observed_orcids":["https://orcid.org/0000-0003-3913-5829"]},"institutions":[{"id":"https://openalex.org/I4210132884","display_name":"Barcelona Institute of Science and Technology","ror":"https://ror.org/03kpps236","country_code":"ES","type":"education","lineage":["https://openalex.org/I4210132884"]},{"id":"https://openalex.org/I4210137962","display_name":"Centre for Genomic Regulation","ror":"https://ror.org/03wyzt892","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I4210132884","https://openalex.org/I4210137962","https://openalex.org/I4387153040"]},{"id":"https://openalex.org/I4210142206","display_name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico","ror":"https://ror.org/03mynna02","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210142206"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Steven Laurie","raw_affiliation_strings":["Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain","institution_ids":["https://openalex.org/I4210132884","https://openalex.org/I4210137962","https://openalex.org/I4210142206"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065945638","display_name":"Sergi Beltr\u00e1n","orcid":"https://orcid.org/0000-0002-2810-3445","observed_orcids":["https://orcid.org/0000-0002-2810-3445"]},"institutions":[{"id":"https://openalex.org/I170486558","display_name":"Universitat Pompeu Fabra","ror":"https://ror.org/04n0g0b29","country_code":"ES","type":"education","lineage":["https://openalex.org/I170486558"]},{"id":"https://openalex.org/I4210132884","display_name":"Barcelona Institute of Science and Technology","ror":"https://ror.org/03kpps236","country_code":"ES","type":"education","lineage":["https://openalex.org/I4210132884"]},{"id":"https://openalex.org/I4210137962","display_name":"Centre for Genomic Regulation","ror":"https://ror.org/03wyzt892","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I4210132884","https://openalex.org/I4210137962","https://openalex.org/I4387153040"]},{"id":"https://openalex.org/I4210142206","display_name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico","ror":"https://ror.org/03mynna02","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210142206"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Sergi Beltran","raw_affiliation_strings":["Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain","Departament de Gen\u00e8tica, Microbiologia i Estad\u00edstica, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain","Universitat Pompeu Fabra (UPF), Barcelona, Spain"],"raw_orcid":"https://orcid.org/0000-0002-2810-3445","affiliations":[{"raw_affiliation_string":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain","institution_ids":["https://openalex.org/I4210132884","https://openalex.org/I4210137962","https://openalex.org/I4210142206"]},{"raw_affiliation_string":"Departament de Gen\u00e8tica, Microbiologia i Estad\u00edstica, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"Universitat Pompeu Fabra (UPF), Barcelona, Spain","institution_ids":["https://openalex.org/I170486558"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059757648","display_name":"Salvador Capella-Guti\u00e9rrez","orcid":"https://orcid.org/0000-0002-0309-604X","observed_orcids":["https://orcid.org/0000-0002-0309-604X"]},"institutions":[{"id":"https://openalex.org/I2799803557","display_name":"Barcelona Supercomputing Center","ror":"https://ror.org/05sd8tv96","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2799803557","https://openalex.org/I9617848"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Salvador Capella-Guti\u00e9rrez","raw_affiliation_strings":["Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain","Coordination Unit Spanish National Bioinformatics Institute (INB/ELIXIR-ES), Barcelona Supercomputing Center, Barcelona, Spain"],"raw_orcid":"https://orcid.org/0000-0002-0309-604X","affiliations":[{"raw_affiliation_string":"Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain","institution_ids":["https://openalex.org/I2799803557"]},{"raw_affiliation_string":"Coordination Unit Spanish National Bioinformatics Institute (INB/ELIXIR-ES), Barcelona Supercomputing Center, Barcelona, Spain","institution_ids":["https://openalex.org/I2799803557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044037386","display_name":"Davide Cirillo","orcid":"https://orcid.org/0000-0003-4982-4716","observed_orcids":["https://orcid.org/0000-0003-4982-4716"]},"institutions":[{"id":"https://openalex.org/I2799803557","display_name":"Barcelona Supercomputing Center","ror":"https://ror.org/05sd8tv96","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2799803557","https://openalex.org/I9617848"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Davide Cirillo","raw_affiliation_strings":["Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain. davide.cirillo@bsc.es","Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain"],"raw_orcid":"https://orcid.org/0000-0003-4982-4716","affiliations":[{"raw_affiliation_string":"Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain. davide.cirillo@bsc.es","institution_ids":["https://openalex.org/I2799803557"]},{"raw_affiliation_string":"Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain","institution_ids":["https://openalex.org/I2799803557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062908694","display_name":"Hanns Lochm\u00fcller","orcid":"https://orcid.org/0000-0003-2324-8001","observed_orcids":["https://orcid.org/0000-0003-2324-8001"]},"institutions":[{"id":"https://openalex.org/I153718931","display_name":"University of Ottawa","ror":"https://ror.org/03c4mmv16","country_code":"CA","type":"education","lineage":["https://openalex.org/I153718931"]},{"id":"https://openalex.org/I161046081","display_name":"University of Freiburg","ror":"https://ror.org/0245cg223","country_code":"DE","type":"education","lineage":["https://openalex.org/I161046081"]},{"id":"https://openalex.org/I2799330578","display_name":"Children's Hospital of Eastern Ontario","ror":"https://ror.org/05nsbhw27","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2799330578"]},{"id":"https://openalex.org/I2800722420","display_name":"Ottawa Hospital","ror":"https://ror.org/03c62dg59","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2800722420"]},{"id":"https://openalex.org/I2801240073","display_name":"University Medical Center Freiburg","ror":"https://ror.org/03vzbgh69","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2801240073"]},{"id":"https://openalex.org/I4210132884","display_name":"Barcelona Institute of Science and Technology","ror":"https://ror.org/03kpps236","country_code":"ES","type":"education","lineage":["https://openalex.org/I4210132884"]},{"id":"https://openalex.org/I4210137962","display_name":"Centre for Genomic Regulation","ror":"https://ror.org/03wyzt892","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I4210132884","https://openalex.org/I4210137962","https://openalex.org/I4387153040"]},{"id":"https://openalex.org/I4210142206","display_name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico","ror":"https://ror.org/03mynna02","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210142206"]},{"id":"https://openalex.org/I4401200329","display_name":"uOttawa Brain and Mind Research Institute","ror":"https://ror.org/036s2ns10","country_code":"CA","type":"facility","lineage":["https://openalex.org/I153718931","https://openalex.org/I4401200329"]}],"countries":["CA","DE","ES"],"is_corresponding":false,"raw_author_name":"Hanns Lochm\u00fcller","raw_affiliation_strings":["Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada","Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain","Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada","Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany","Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada"],"raw_orcid":"https://orcid.org/0000-0003-2324-8001","affiliations":[{"raw_affiliation_string":"Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada","institution_ids":["https://openalex.org/I153718931","https://openalex.org/I4401200329"]},{"raw_affiliation_string":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain","institution_ids":["https://openalex.org/I4210132884","https://openalex.org/I4210137962","https://openalex.org/I4210142206"]},{"raw_affiliation_string":"Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada","institution_ids":["https://openalex.org/I2799330578"]},{"raw_affiliation_string":"Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany","institution_ids":["https://openalex.org/I161046081","https://openalex.org/I2801240073"]},{"raw_affiliation_string":"Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada","institution_ids":["https://openalex.org/I2800722420"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5015217651","display_name":"Alfonso Valencia","orcid":"https://orcid.org/0000-0002-8937-6789","observed_orcids":["https://orcid.org/0000-0002-8937-6789"]},"institutions":[{"id":"https://openalex.org/I11932220","display_name":"Instituci\u00f3 Catalana de Recerca i Estudis Avan\u00e7ats","ror":"https://ror.org/0371hy230","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I11932220"]},{"id":"https://openalex.org/I2799803557","display_name":"Barcelona Supercomputing Center","ror":"https://ror.org/05sd8tv96","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2799803557","https://openalex.org/I9617848"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Alfonso Valencia","raw_affiliation_strings":["Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain","Coordination Unit Spanish National Bioinformatics Institute (INB/ELIXIR-ES), Barcelona Supercomputing Center, Barcelona, Spain","ICREA, Pg. Llu\u00eds Companys 23, 08010, Barcelona, Spain"],"raw_orcid":"https://orcid.org/0000-0002-8937-6789","affiliations":[{"raw_affiliation_string":"Barcelona Supercomputing Center (BSC), Pla\u00e7a Eusebi G\u00fcell, 1-3, 08034, Barcelona, Spain","institution_ids":["https://openalex.org/I2799803557"]},{"raw_affiliation_string":"Coordination Unit Spanish National Bioinformatics Institute (INB/ELIXIR-ES), Barcelona Supercomputing Center, Barcelona, Spain","institution_ids":["https://openalex.org/I2799803557"]},{"raw_affiliation_string":"ICREA, Pg. Llu\u00eds Companys 23, 08010, Barcelona, Spain","institution_ids":["https://openalex.org/I11932220"]}]}],"institutions":[],"countries_distinct_count":7,"institutions_distinct_count":26,"corresponding_author_ids":["https://openalex.org/A5044037386"],"corresponding_institution_ids":["https://openalex.org/I2799803557"],"apc_list":{"value":6790,"currency":"USD","value_usd":6790},"apc_paid":{"value":6790,"currency":"USD","value_usd":6790},"fwci":4.5098,"has_fulltext":true,"cited_by_count":18,"citation_normalized_percentile":{"value":0.95707258,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":99},"biblio":{"volume":"15","issue":"1","first_page":"1227","last_page":"1227"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11271","display_name":"Myasthenia Gravis and Thymoma","score":0.9531000256538391,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11271","display_name":"Myasthenia Gravis and Thymoma","score":0.9531000256538391,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.021900000050663948,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.015399999916553497,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-myasthenic-syndrome","display_name":"congenital myasthenic syndrome","score":0.9789999723434448},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.9340000152587891},{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.7900000214576721},{"id":"https://openalex.org/keywords/neuromuscular-junction-disorders","display_name":"neuromuscular junction disorders","score":0.9200000166893005},{"id":"https://openalex.org/keywords/multilayer-networks","display_name":"multilayer networks","score":0.8539999723434448},{"id":"https://openalex.org/keywords/community-detection","display_name":"community detection","score":0.8650000095367432},{"id":"https://openalex.org/keywords/protein-protein-interaction","display_name":"protein-protein interaction","score":0.9010000228881836},{"id":"https://openalex.org/keywords/metabolomics","display_name":"metabolomics","score":0.699999988079071},{"id":"https://openalex.org/keywords/pathway-analysis","display_name":"pathway analysis","score":0.6449999809265137},{"id":"https://openalex.org/keywords/extracellular-matrix","display_name":"extracellular matrix","score":0.8930000066757202},{"id":"https://openalex.org/keywords/acetylcholine-receptor-clustering","display_name":"acetylcholine receptor clustering","score":0.9869999885559082},{"id":"https://openalex.org/keywords/causative-genes","display_name":"causal genes","score":0.6980000138282776}],"concepts":[{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5667651891708374},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5594569444656372},{"id":"https://openalex.org/C177212765","wikidata":"https://www.wikidata.org/wiki/Q627335","display_name":"Workflow","level":2,"score":0.4530165493488312},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.44930580258369446},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3980378210544586},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.39225250482559204},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.3332942724227905},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.30742383003234863},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.10106784105300903},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009469","descriptor_name":"Neuromuscular Junction","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011950","descriptor_name":"Receptors, Cholinergic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011950","descriptor_name":"Receptors, Cholinergic","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020294","descriptor_name":"Myasthenic Syndromes, Congenital","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020294","descriptor_name":"Myasthenic Syndromes, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D057188","descriptor_name":"Workflow","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":10,"locations":[{"id":"doi:10.1038/s41467-024-45099-0","doi":"https://doi.org/10.1038/s41467-024-45099-0","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-024-45099-0","pdf_url":"https://www.nature.com/articles/s41467-024-45099-0.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},{"id":"doi:10.1101/2023.01.19.524736","doi":"https://doi.org/10.1101/2023.01.19.524736","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2023.01.19.524736","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2023/01/20/2023.01.19.524736.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:10902324","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10902324","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10902324/pdf/41467_2024_Article_45099.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nat Commun","raw_type":"Text"},{"id":"pmid:38418480","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38418480","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature communications","raw_type":"Journal Article"},{"id":"pmh:oai:upcommons.upc.edu:2117/404162","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2117/404162","pdf_url":"https://upcommons.upc.edu/bitstreams/43589494-7665-4390-ad02-6564525135ca/download","source":{"id":"https://openalex.org/S4377196262","display_name":"UPCommons institutional repository (Universitat Polit\u00e8cnica de Catalunya)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I9617848","host_organization_name":"Universitat Polit\u00e8cnica de Catalunya","host_organization_lineage":["https://openalex.org/I9617848"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/305699","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2066/305699","pdf_url":"https://repository.ubn.ru.nl//bitstream/handle/2066/305699/305699.pdf","source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article / Letter to editor"},{"id":"pmh:oai:RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-45099-0","doi":null,"is_oa":false,"landing_page_url":"https://www.nature.com/articles/s41467-024-45099-0","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:doaj.org/article:da340b3b30af42679f99a2df69ba8241","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/da340b3b30af42679f99a2df69ba8241","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)","raw_type":"article"},{"id":"doi:10.25405/ncl.34494738","doi":"https://doi.org/10.25405/ncl.34494738","is_oa":true,"landing_page_url":"https://doi.org/10.25405/ncl.34494738","pdf_url":null,"source":{"id":"https://openalex.org/S4306402485","display_name":"Newcastle University ePrints (Newcastle Univesity)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I84884186","host_organization_name":"Newcastle University","host_organization_lineage":["https://openalex.org/I84884186"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},{"id":"doi:10.25405/ncl.34494738.v1","doi":"https://doi.org/10.25405/ncl.34494738.v1","is_oa":true,"landing_page_url":"https://doi.org/10.25405/ncl.34494738.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4306402485","display_name":"Newcastle University ePrints (Newcastle Univesity)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I84884186","host_organization_name":"Newcastle University","host_organization_lineage":["https://openalex.org/I84884186"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"doi:10.1038/s41467-024-45099-0","doi":"https://doi.org/10.1038/s41467-024-45099-0","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-024-45099-0","pdf_url":"https://www.nature.com/articles/s41467-024-45099-0.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1443089283","display_name":null,"funder_award_id":"950\u2010232279","funder_id":"https://openalex.org/F4320320994","funder_display_name":"Canada Research Chairs"},{"id":"https://openalex.org/G2659294540","display_name":"RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research","funder_award_id":"305444","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G398940636","display_name":"Robust Learning and Reasoning for Complex Event Forecasting","funder_award_id":"101070430","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G4466902010","display_name":null,"funder_award_id":"FDN-167281","funder_id":"https://openalex.org/F4320320994","funder_display_name":"Canada Research Chairs"},{"id":"https://openalex.org/G4785284928","display_name":null,"funder_award_id":"FDN- 167281","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G5097141464","display_name":null,"funder_award_id":"NMD4C","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G5451116430","display_name":"individualizedPaediatricCure: Cloud-based virtual-patient models for precision paediatric oncology","funder_award_id":"826121","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G675428038","display_name":null,"funder_award_id":"826121","funder_id":"https://openalex.org/F4320332999","funder_display_name":"Horizon 2020 Framework Programme"},{"id":"https://openalex.org/G7076316076","display_name":null,"funder_award_id":"CFI-JELF 38412","funder_id":"https://openalex.org/F4320320994","funder_display_name":"Canada Research Chairs"},{"id":"https://openalex.org/G833328826","display_name":"Integrated European \u2013omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases","funder_award_id":"305121","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"}],"funders":[{"id":"https://openalex.org/F4320319964","display_name":"Muscular Dystrophy Canada","ror":"https://ror.org/000hkd473"},{"id":"https://openalex.org/F4320320295","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70"},{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320320994","display_name":"Canada Research Chairs","ror":"https://ror.org/0517h6h17"},{"id":"https://openalex.org/F4320323868","display_name":"Barcelona Supercomputing Center","ror":"https://ror.org/05sd8tv96"},{"id":"https://openalex.org/F4320332999","display_name":"Horizon 2020 Framework Programme","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320334322","display_name":"HORIZON EUROPE Framework Programme","ror":null},{"id":"https://openalex.org/F4320334506","display_name":"Canadian Institutes of Health Research","ror":"https://ror.org/01gavpb45"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4392238947.pdf","grobid_xml":"https://content.openalex.org/works/W4392238947.grobid-xml"},"referenced_works_count":141,"referenced_works":["https://openalex.org/W29922332","https://openalex.org/W1492942312","https://openalex.org/W1559650040","https://openalex.org/W1566845359","https://openalex.org/W1970781067","https://openalex.org/W1972448805","https://openalex.org/W1973703936","https://openalex.org/W1975633090","https://openalex.org/W1980171391","https://openalex.org/W1987510481","https://openalex.org/W1989277387","https://openalex.org/W1989460846","https://openalex.org/W1991538817","https://openalex.org/W1991680249","https://openalex.org/W2000860171","https://openalex.org/W2001195368","https://openalex.org/W2001282076","https://openalex.org/W2005089183","https://openalex.org/W2014798817","https://openalex.org/W2024473147","https://openalex.org/W2025100296","https://openalex.org/W2036077728","https://openalex.org/W2044746434","https://openalex.org/W2045931266","https://openalex.org/W2056782561","https://openalex.org/W2057302300","https://openalex.org/W2058229406","https://openalex.org/W2059380644","https://openalex.org/W2060888437","https://openalex.org/W2061439309","https://openalex.org/W2067837454","https://openalex.org/W2070050178","https://openalex.org/W2072053219","https://openalex.org/W2072200164","https://openalex.org/W2075980437","https://openalex.org/W2076958535","https://openalex.org/W2079053769","https://openalex.org/W2080742928","https://openalex.org/W2082556380","https://openalex.org/W2082745004","https://openalex.org/W2083045667","https://openalex.org/W2090030503","https://openalex.org/W2102859097","https://openalex.org/W2113423784","https://openalex.org/W2121890003","https://openalex.org/W2123125411","https://openalex.org/W2124733101","https://openalex.org/W2128366083","https://openalex.org/W2129377253","https://openalex.org/W2131681506","https://openalex.org/W2131860370","https://openalex.org/W2134529953","https://openalex.org/W2134662941","https://openalex.org/W2138248778","https://openalex.org/W2139562032","https://openalex.org/W2140422547","https://openalex.org/W2142445431","https://openalex.org/W2142763075","https://openalex.org/W2146215535","https://openalex.org/W2147477044","https://openalex.org/W2149992227","https://openalex.org/W2156555464","https://openalex.org/W2167279371","https://openalex.org/W2167594266","https://openalex.org/W2169854365","https://openalex.org/W2170443012","https://openalex.org/W2171371673","https://openalex.org/W2196880011","https://openalex.org/W2256016639","https://openalex.org/W2294542913","https://openalex.org/W2304935690","https://openalex.org/W2417483443","https://openalex.org/W2463913757","https://openalex.org/W2505421435","https://openalex.org/W2507776852","https://openalex.org/W2508259881","https://openalex.org/W2516224023","https://openalex.org/W2529052661","https://openalex.org/W2537679995","https://openalex.org/W2545586732","https://openalex.org/W2558388086","https://openalex.org/W2566709727","https://openalex.org/W2592349359","https://openalex.org/W2616508231","https://openalex.org/W2626759838","https://openalex.org/W2735272571","https://openalex.org/W2748212836","https://openalex.org/W2758924911","https://openalex.org/W2758973106","https://openalex.org/W2766498431","https://openalex.org/W2771579316","https://openalex.org/W2782693121","https://openalex.org/W2789128799","https://openalex.org/W2789220831","https://openalex.org/W2789525917","https://openalex.org/W2790199113","https://openalex.org/W2791661196","https://openalex.org/W2792063615","https://openalex.org/W2792874817","https://openalex.org/W2793853619","https://openalex.org/W2798178494","https://openalex.org/W2798199736","https://openalex.org/W2801553277","https://openalex.org/W2805755448","https://openalex.org/W2807344826","https://openalex.org/W2809518685","https://openalex.org/W2883589984","https://openalex.org/W2892288686","https://openalex.org/W2899942534","https://openalex.org/W2903831890","https://openalex.org/W2903961017","https://openalex.org/W2917598256","https://openalex.org/W2918907317","https://openalex.org/W2935403869","https://openalex.org/W2941629805","https://openalex.org/W2947131068","https://openalex.org/W2949367643","https://openalex.org/W2951531839","https://openalex.org/W2953836043","https://openalex.org/W2965838536","https://openalex.org/W2969651606","https://openalex.org/W2981995080","https://openalex.org/W3012641931","https://openalex.org/W3029661147","https://openalex.org/W3037826211","https://openalex.org/W3040442199","https://openalex.org/W3080465112","https://openalex.org/W3110488125","https://openalex.org/W3111993068","https://openalex.org/W3112328771","https://openalex.org/W3142396165","https://openalex.org/W3212549469","https://openalex.org/W4210304146","https://openalex.org/W4224326124","https://openalex.org/W4232900436","https://openalex.org/W4233698560","https://openalex.org/W4233918295","https://openalex.org/W4291021590","https://openalex.org/W4323566556","https://openalex.org/W4324375437","https://openalex.org/W6911425620"],"related_works":["https://openalex.org/W2970280376","https://openalex.org/W3212549469","https://openalex.org/W7011758734","https://openalex.org/W2767957926","https://openalex.org/W2021461907","https://openalex.org/W6908462207","https://openalex.org/W7151826551","https://openalex.org/W2782693121","https://openalex.org/W4415992657","https://openalex.org/W2615251731"],"abstract_inverted_index":{"Exploring":[0],"the":[1,16,45,58,103,134,141],"molecular":[2,42,131],"basis":[3],"of":[4,33,78,106,113,137],"disease":[5,9],"severity":[6,47,98,136],"in":[7,148],"rare":[8,138,150],"scenarios":[10],"is":[11],"a":[12,31,41,54],"challenging":[13],"task":[14],"provided":[15,82],"limitations":[17],"on":[18,72],"data":[19,85],"availability.":[20],"Causative":[21],"genes":[22,64,67],"have":[23],"been":[24],"described":[25],"for":[26,44,143],"Congenital":[27],"Myasthenic":[28],"Syndromes":[29],"(CMS),":[30],"group":[32],"diverse":[34],"minority":[35],"neuromuscular":[36],"junction":[37],"(NMJ)":[38],"disorders;":[39],"yet":[40],"explanation":[43],"phenotypic":[46],"differences":[48],"remains":[49],"unclear.":[50],"Here,":[51],"we":[52],"present":[53],"workflow":[55],"to":[56,102,133],"explore":[57],"functional":[59],"relationships":[60],"between":[61],"CMS":[62,97],"causal":[63],"and":[65,91,110],"altered":[66],"from":[68],"each":[69],"patient,":[70],"based":[71],"multilayer":[73,123],"network":[74,124],"community":[75],"detection":[76],"analysis":[77,125],"complementary":[79],"biomedical":[80],"information":[81,129],"by":[83],"relevant":[84],"sources,":[86],"namely":[87],"protein-protein":[88],"interactions,":[89],"pathways":[90],"metabolomics.":[92],"Our":[93],"results":[94],"show":[95],"that":[96],"can":[99],"be":[100],"ascribed":[101],"personalized":[104,127],"impairment":[105],"extracellular":[107],"matrix":[108],"components":[109],"postsynaptic":[111],"modulators":[112],"acetylcholine":[114],"receptor":[115],"(AChR)":[116],"clustering.":[117],"This":[118],"work":[119],"showcases":[120],"how":[121],"coupling":[122],"with":[126],"-omics":[128],"provides":[130],"explanations":[132],"varying":[135],"diseases;":[139],"paving":[140],"way":[142],"sorting":[144],"out":[145],"similar":[146],"cases":[147],"other":[149],"diseases.":[151]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":8},{"year":2024,"cited_by_count":5}],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2024-03-05T00:00:00"}
