{"id":"https://openalex.org/W2003017334","doi":"https://doi.org/10.1038/ncomms6326","title":"Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy","display_name":"Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy","publication_year":2014,"publication_date":"2014-10-29","ids":{"openalex":"https://openalex.org/W2003017334","doi":"https://doi.org/10.1038/ncomms6326","mag":"2003017334","pmid":"https://pubmed.ncbi.nlm.nih.gov/25351925"},"language":"en","primary_location":{"id":"doi:10.1038/ncomms6326","doi":"https://doi.org/10.1038/ncomms6326","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ncomms6326","pdf_url":"https://www.nature.com/articles/ncomms6326.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":false,"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":null,"license_id":null,"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","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nature.com/articles/ncomms6326.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5081460259","display_name":"Rafael Vald\u00e9s\u2010Mas","orcid":"https://orcid.org/0000-0002-0737-5425","observed_orcids":["https://orcid.org/0000-0002-0737-5425"]},"institutions":[{"id":"https://openalex.org/I165339363","display_name":"Universidad de Oviedo","ror":"https://ror.org/006gksa02","country_code":"ES","type":"education","lineage":["https://openalex.org/I165339363"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Rafael Vald\u00e9s-Mas","raw_affiliation_strings":["Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain","Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I165339363"]},{"raw_affiliation_string":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, Oviedo, 33006, Spain","institution_ids":["https://openalex.org/I165339363"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069859911","display_name":"Ana Guti\u00e9rrez\u2010Fern\u00e1ndez","orcid":"https://orcid.org/0000-0002-9287-8843","observed_orcids":["https://orcid.org/0000-0002-9287-8843"]},"institutions":[{"id":"https://openalex.org/I165339363","display_name":"Universidad de Oviedo","ror":"https://ror.org/006gksa02","country_code":"ES","type":"education","lineage":["https://openalex.org/I165339363"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Ana Guti\u00e9rrez-Fern\u00e1ndez","raw_affiliation_strings":["Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain","Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I165339363"]},{"raw_affiliation_string":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, Oviedo, 33006, Spain","institution_ids":["https://openalex.org/I165339363"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072807750","display_name":"Juan G\u00f3mez","orcid":"https://orcid.org/0000-0002-3318-4649","observed_orcids":["https://orcid.org/0000-0002-3318-4649"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Juan G\u00f3mez","raw_affiliation_strings":["Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), 33006 Oviedo, Spain","Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), 33006 Oviedo, Spain","institution_ids":[]},{"raw_affiliation_string":"Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), Oviedo, 33006, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017625454","display_name":"Eli\u00e9cer Coto","orcid":"https://orcid.org/0000-0002-8649-9150","observed_orcids":["https://orcid.org/0000-0002-8649-9150"]},"institutions":[{"id":"https://openalex.org/I165339363","display_name":"Universidad de Oviedo","ror":"https://ror.org/006gksa02","country_code":"ES","type":"education","lineage":["https://openalex.org/I165339363"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Eliecer Coto","raw_affiliation_strings":["1] Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), 33006 Oviedo, Spain [2] Departamento de Medicina, Universidad de Oviedo, 33006 Oviedo, Spain","Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1] Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), 33006 Oviedo, Spain [2] Departamento de Medicina, Universidad de Oviedo, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I165339363"]},{"raw_affiliation_string":"Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), Oviedo, 33006, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024581266","display_name":"Aurora Astudillo","orcid":"https://orcid.org/0000-0001-8947-8809","observed_orcids":["https://orcid.org/0000-0001-8947-8809"]},"institutions":[{"id":"https://openalex.org/I4210133994","display_name":"Hospital Universitario Central de Asturias","ror":"https://ror.org/03v85ar63","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2800212897","https://openalex.org/I4210133994","https://openalex.org/I4405258403"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Aurora Astudillo","raw_affiliation_strings":["Servicio de Anatom\u00eda Patol\u00f3gica, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain","Servicio de Anatom\u00eda Patol\u00f3gica, Hospital Universitario Central de Asturias, Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Anatom\u00eda Patol\u00f3gica, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I4210133994"]},{"raw_affiliation_string":"Servicio de Anatom\u00eda Patol\u00f3gica, Hospital Universitario Central de Asturias, Oviedo, 33006, Spain","institution_ids":["https://openalex.org/I4210133994"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Diana A. Puente","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I165339363","display_name":"Universidad de Oviedo","ror":"https://ror.org/006gksa02","country_code":"ES","type":"education","lineage":["https://openalex.org/I165339363"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Diana A. Puente","raw_affiliation_strings":["Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain","Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I165339363"]},{"raw_affiliation_string":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, Oviedo, 33006, Spain","institution_ids":["https://openalex.org/I165339363"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111913368","display_name":"Juli\u00e1n R. Reguero","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210133994","display_name":"Hospital Universitario Central de Asturias","ror":"https://ror.org/03v85ar63","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2800212897","https://openalex.org/I4210133994","https://openalex.org/I4405258403"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Juli\u00e1n R. Reguero","raw_affiliation_strings":["Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain","Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I4210133994"]},{"raw_affiliation_string":"Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, Oviedo, 33006, Spain","institution_ids":["https://openalex.org/I4210133994"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040017671","display_name":"Victoria \u00c1lvarez","orcid":"https://orcid.org/0000-0002-1916-2523","observed_orcids":["https://orcid.org/0000-0002-1916-2523"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Victoria \u00c1lvarez","raw_affiliation_strings":["Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), 33006 Oviedo, Spain","Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), 33006 Oviedo, Spain","institution_ids":[]},{"raw_affiliation_string":"Gen\u00e9tica Molecular, Red de Investigaci\u00f3n Renal (REDINREN), Oviedo, 33006, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027304053","display_name":"C\u00e9sar Mor\u0131\u0301s","orcid":"https://orcid.org/0000-0002-2871-190X","observed_orcids":["https://orcid.org/0000-0002-2871-190X"]},"institutions":[{"id":"https://openalex.org/I165339363","display_name":"Universidad de Oviedo","ror":"https://ror.org/006gksa02","country_code":"ES","type":"education","lineage":["https://openalex.org/I165339363"]},{"id":"https://openalex.org/I4210133994","display_name":"Hospital Universitario Central de Asturias","ror":"https://ror.org/03v85ar63","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2800212897","https://openalex.org/I4210133994","https://openalex.org/I4405258403"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"C\u00e9sar Mor\u00eds","raw_affiliation_strings":["1] Departamento de Medicina, Universidad de Oviedo, 33006 Oviedo, Spain [2] Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain","Departamento de Medicina, Universidad de Oviedo, Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1] Departamento de Medicina, Universidad de Oviedo, 33006 Oviedo, Spain [2] Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I165339363","https://openalex.org/I4210133994"]},{"raw_affiliation_string":"Departamento de Medicina, Universidad de Oviedo, Oviedo, 33006, Spain","institution_ids":["https://openalex.org/I165339363"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081846921","display_name":"Diego Le\u00f3n","orcid":"https://orcid.org/0000-0002-2923-5941","observed_orcids":["https://orcid.org/0000-0002-2923-5941"]},"institutions":[{"id":"https://openalex.org/I4210133994","display_name":"Hospital Universitario Central de Asturias","ror":"https://ror.org/03v85ar63","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2800212897","https://openalex.org/I4210133994","https://openalex.org/I4405258403"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Diego Le\u00f3n","raw_affiliation_strings":["Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain","Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I4210133994"]},{"raw_affiliation_string":"Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, Oviedo, 33006, Spain","institution_ids":["https://openalex.org/I4210133994"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101914381","display_name":"Mar\u0131\u0301a Mart\u0131\u0301n","orcid":"https://orcid.org/0000-0002-6454-765X","observed_orcids":["https://orcid.org/0000-0002-6454-765X"]},"institutions":[{"id":"https://openalex.org/I4210133994","display_name":"Hospital Universitario Central de Asturias","ror":"https://ror.org/03v85ar63","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2800212897","https://openalex.org/I4210133994","https://openalex.org/I4405258403"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mar\u00eda Mart\u00edn","raw_affiliation_strings":["Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain","Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I4210133994"]},{"raw_affiliation_string":"Servicio de Cardiolog\u00eda, Fundaci\u00f3n Asturcor, Hospital Universitario Central de Asturias, Oviedo, 33006, Spain","institution_ids":["https://openalex.org/I4210133994"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091420701","display_name":"Xos\u00e9 S. Puente","orcid":"https://orcid.org/0000-0001-9525-1483","observed_orcids":["https://orcid.org/0000-0001-9525-1483"]},"institutions":[{"id":"https://openalex.org/I165339363","display_name":"Universidad de Oviedo","ror":"https://ror.org/006gksa02","country_code":"ES","type":"education","lineage":["https://openalex.org/I165339363"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Xose S Puente","raw_affiliation_strings":["Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain","Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I165339363"]},{"raw_affiliation_string":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, Oviedo, 33006, Spain","institution_ids":["https://openalex.org/I165339363"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087974982","display_name":"Carlos L\u00f3pez-Ot\u0131\u0301n","orcid":"https://orcid.org/0000-0001-6964-1904","observed_orcids":["https://orcid.org/0000-0001-6964-1904"]},"institutions":[{"id":"https://openalex.org/I165339363","display_name":"Universidad de Oviedo","ror":"https://ror.org/006gksa02","country_code":"ES","type":"education","lineage":["https://openalex.org/I165339363"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Carlos L\u00f3pez-Ot\u00edn","raw_affiliation_strings":["Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain","Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, Oviedo, 33006, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain","institution_ids":["https://openalex.org/I165339363"]},{"raw_affiliation_string":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular, Facultad de Medicina, Instituto Universitario de Oncolog\u00eda-IUOPA, Universidad de Oviedo, Oviedo, 33006, Spain","institution_ids":["https://openalex.org/I165339363"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":6990,"currency":"USD","value_usd":6990},"apc_paid":null,"fwci":8.2475,"has_fulltext":true,"cited_by_count":193,"citation_normalized_percentile":{"value":0.98249841,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"5","issue":"1","first_page":"5326","last_page":"5326"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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":9.999999747378752e-05,"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/T11922","display_name":"Cardiovascular Effects of Exercise","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-hypertrophic-cardiomyopathy","display_name":"familial hypertrophic cardiomyopathy","score":0.9399999976158142},{"id":"https://openalex.org/keywords/filamin-c","display_name":"filamin C","score":0.9990000128746033},{"id":"https://openalex.org/keywords/sarcomeric-proteins","display_name":"sarcomeric proteins","score":0.9490000009536743},{"id":"https://openalex.org/keywords/sudden-cardiac-death","display_name":"sudden cardiac death","score":0.9940000176429749},{"id":"https://openalex.org/keywords/genetic-segregation","display_name":"genetic segregation","score":0.4970000088214874}],"concepts":[{"id":"https://openalex.org/C20563397","wikidata":"https://www.wikidata.org/wiki/Q410803","display_name":"Filamin","level":4,"score":0.9655542373657227},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6289969086647034},{"id":"https://openalex.org/C2780185194","wikidata":"https://www.wikidata.org/wiki/Q1364270","display_name":"Hypertrophic cardiomyopathy","level":2,"score":0.5618060827255249},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5428327322006226},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5341837406158447},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.46453624963760376},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.45955216884613037},{"id":"https://openalex.org/C2993353509","wikidata":"https://www.wikidata.org/wiki/Q411867","display_name":"Sudden death","level":2,"score":0.43241819739341736},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.4252777099609375},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.35119348764419556},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.12409496307373047},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.10981261730194092},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.0},{"id":"https://openalex.org/C142669718","wikidata":"https://www.wikidata.org/wiki/Q154626","display_name":"Cytoskeleton","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009206","descriptor_name":"Myocardium","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009206","descriptor_name":"Myocardium","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024741","descriptor_name":"Cardiomyopathy, Hypertrophic, Familial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D032383","descriptor_name":"Myocytes, Cardiac","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D032383","descriptor_name":"Myocytes, Cardiac","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D051381","descriptor_name":"Rats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064448","descriptor_name":"Filamins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064448","descriptor_name":"Filamins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1038/ncomms6326","doi":"https://doi.org/10.1038/ncomms6326","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ncomms6326","pdf_url":"https://www.nature.com/articles/ncomms6326.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":false,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},{"id":"pmid:25351925","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25351925","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:RePEc:nat:natcom:v:5:y:2014:i:1:d:10.1038_ncomms6326","doi":null,"is_oa":false,"landing_page_url":"https://www.nature.com/articles/ncomms6326","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:digibuo.uniovi.es:10651/30366","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10651/30366","pdf_url":null,"source":{"id":"https://openalex.org/S4306402334","display_name":"Consultation of the Doctoral Thesis Database (TESEO) (Ministerio de Educaci\u00f3n, Cultura y Deporte)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801976130","host_organization_name":"Ministerio de Educaci\u00f3n Cultura y Deporte","host_organization_lineage":["https://openalex.org/I2801976130"],"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":"WOS:000344062100002","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:zenodo.org:14760670","doi":null,"is_oa":true,"landing_page_url":"https://doi.org/10.1038/ncomms6326.","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"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":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1038/ncomms6326","doi":"https://doi.org/10.1038/ncomms6326","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ncomms6326","pdf_url":"https://www.nature.com/articles/ncomms6326.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":false,"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":null,"license_id":null,"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","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320334923","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886"},{"id":"https://openalex.org/F4320335322","display_name":"European Regional Development Fund","ror":"https://ror.org/00k4n6c32"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2003017334.pdf","grobid_xml":"https://content.openalex.org/works/W2003017334.grobid-xml"},"referenced_works_count":34,"referenced_works":["https://openalex.org/W1980669503","https://openalex.org/W1993355130","https://openalex.org/W2005914684","https://openalex.org/W2007340832","https://openalex.org/W2012016911","https://openalex.org/W2017428806","https://openalex.org/W2020303641","https://openalex.org/W2026760013","https://openalex.org/W2031121711","https://openalex.org/W2032278776","https://openalex.org/W2033794113","https://openalex.org/W2041599232","https://openalex.org/W2050506350","https://openalex.org/W2056119944","https://openalex.org/W2058973709","https://openalex.org/W2075471983","https://openalex.org/W2082182268","https://openalex.org/W2085529735","https://openalex.org/W2087398999","https://openalex.org/W2094131887","https://openalex.org/W2100906399","https://openalex.org/W2103441770","https://openalex.org/W2108234281","https://openalex.org/W2113002155","https://openalex.org/W2129302503","https://openalex.org/W2139214355","https://openalex.org/W2149321230","https://openalex.org/W2149422196","https://openalex.org/W2161106571","https://openalex.org/W2168322305","https://openalex.org/W2169567789","https://openalex.org/W2503907687","https://openalex.org/W2616302857","https://openalex.org/W3186521396"],"related_works":["https://openalex.org/W3125791068","https://openalex.org/W4403344474","https://openalex.org/W2601332247","https://openalex.org/W3135154562","https://openalex.org/W3127374486","https://openalex.org/W4309681213","https://openalex.org/W4323037106","https://openalex.org/W4407111848","https://openalex.org/W4313397375","https://openalex.org/W2900027834"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":8},{"year":2025,"cited_by_count":18},{"year":2024,"cited_by_count":15},{"year":2023,"cited_by_count":15},{"year":2022,"cited_by_count":25},{"year":2021,"cited_by_count":19},{"year":2020,"cited_by_count":21},{"year":2019,"cited_by_count":17},{"year":2018,"cited_by_count":18},{"year":2017,"cited_by_count":12},{"year":2016,"cited_by_count":12},{"year":2015,"cited_by_count":13}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
