{"id":"https://openalex.org/W2181965354","doi":null,"title":"Effects of mutations and genetic overlap in inherited long-QT and Brugada arrhythmia syndromes.","display_name":"Effects of mutations and genetic overlap in inherited long-QT and Brugada arrhythmia syndromes.","publication_year":2012,"publication_date":"2012-11-01","ids":{"openalex":"https://openalex.org/W2181965354","mag":"2181965354","pmid":"https://pubmed.ncbi.nlm.nih.gov/23178427"},"language":"en","primary_location":{"id":"pmid:23178427","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23178427","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":"Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5088189824","display_name":"Syndromeshristina-Maria Kotta","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210165841","display_name":"Hippocration General Hospital","ror":"https://ror.org/05v5wwy67","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210165841"]}],"countries":["GR"],"is_corresponding":true,"raw_author_name":"Christina-Maria Kotta","raw_affiliation_strings":["First Department of Cardiology, University of Athens Medical School, Hippokration Hospital, Athens, Greece. mckotta@hotmail.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Department of Cardiology, University of Athens Medical School, Hippokration Hospital, Athens, Greece. mckotta@hotmail.com","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210165841"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Aris Anastasakis","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Aris Anastasakis","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":null,"display_name":"Christodoulos Stefanadis","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Christodoulos Stefanadis","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5088189824"],"corresponding_institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210165841"],"apc_list":null,"apc_paid":null,"fwci":0.8258,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.7587634,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"53","issue":"6","first_page":"439","last_page":"46"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":1.0,"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"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.0,"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"}},{"id":"https://openalex.org/T11217","display_name":"Cardiac Arrhythmias and Treatments","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/long-qt-syndrome","display_name":"long QT syndrome","score":0.972000002861023},{"id":"https://openalex.org/keywords/brugada-syndrome","display_name":"Brugada syndrome","score":0.996999979019165},{"id":"https://openalex.org/keywords/inherited-arrhythmia-syndromes","display_name":"inherited arrhythmia","score":0.8889999985694885},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.7179999947547913},{"id":"https://openalex.org/keywords/shared-genetic-architecture","display_name":"genetic overlap","score":0.871999979019165}],"concepts":[{"id":"https://openalex.org/C2777382798","wikidata":"https://www.wikidata.org/wiki/Q599683","display_name":"Brugada syndrome","level":2,"score":0.7479828596115112},{"id":"https://openalex.org/C2779703243","wikidata":"https://www.wikidata.org/wiki/Q653924","display_name":"Long QT syndrome","level":3,"score":0.6030973196029663},{"id":"https://openalex.org/C2988455589","wikidata":"https://www.wikidata.org/wiki/Q189331","display_name":"Cardiac arrhythmia","level":3,"score":0.5358878970146179},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4746858775615692},{"id":"https://openalex.org/C2779578097","wikidata":"https://www.wikidata.org/wiki/Q1484058","display_name":"Short QT syndrome","level":4,"score":0.4478031396865845},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3692780137062073},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3607604205608368},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.338576078414917},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.3332329988479614},{"id":"https://openalex.org/C118441451","wikidata":"https://www.wikidata.org/wiki/Q12074763","display_name":"QT interval","level":2,"score":0.2395009696483612},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19745683670043945},{"id":"https://openalex.org/C2779161974","wikidata":"https://www.wikidata.org/wiki/Q815819","display_name":"Atrial fibrillation","level":2,"score":0.1690312623977661},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16144061088562012}],"mesh":[{"descriptor_ui":"D001145","descriptor_name":"Arrhythmias, Cardiac","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005807","descriptor_name":"Genes, Overlapping","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007473","descriptor_name":"Ion Channels","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053840","descriptor_name":"Brugada Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"pmid:23178427","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23178427","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":"Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese","raw_type":"Journal Article"},{"id":"mag:2181965354","doi":null,"is_oa":false,"landing_page_url":"http://hellenicjcardiol.com/archive/full_text/2012/6/2012_6_439.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},{"id":"mag:2411576403","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23178427","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":78,"referenced_works":["https://openalex.org/W139666575","https://openalex.org/W220488953","https://openalex.org/W626732835","https://openalex.org/W1491803208","https://openalex.org/W1507105217","https://openalex.org/W1964757615","https://openalex.org/W1967418231","https://openalex.org/W1974454528","https://openalex.org/W1975596528","https://openalex.org/W1976268158","https://openalex.org/W1979924020","https://openalex.org/W1980972649","https://openalex.org/W1985136179","https://openalex.org/W1985695910","https://openalex.org/W1985898469","https://openalex.org/W1989229456","https://openalex.org/W1991662012","https://openalex.org/W1994172923","https://openalex.org/W2000733439","https://openalex.org/W2002944344","https://openalex.org/W2004964064","https://openalex.org/W2014377124","https://openalex.org/W2019973925","https://openalex.org/W2025470533","https://openalex.org/W2027786686","https://openalex.org/W2032030268","https://openalex.org/W2034867162","https://openalex.org/W2046508780","https://openalex.org/W2046830279","https://openalex.org/W2057174913","https://openalex.org/W2065288202","https://openalex.org/W2065723169","https://openalex.org/W2066096265","https://openalex.org/W2070541908","https://openalex.org/W2074705578","https://openalex.org/W2075114698","https://openalex.org/W2080397690","https://openalex.org/W2084756418","https://openalex.org/W2085566674","https://openalex.org/W2088143209","https://openalex.org/W2093214695","https://openalex.org/W2095569622","https://openalex.org/W2096511095","https://openalex.org/W2097042367","https://openalex.org/W2099195016","https://openalex.org/W2107958165","https://openalex.org/W2108813711","https://openalex.org/W2111121698","https://openalex.org/W2111359976","https://openalex.org/W2113868537","https://openalex.org/W2114516874","https://openalex.org/W2120263248","https://openalex.org/W2126590887","https://openalex.org/W2129393568","https://openalex.org/W2133315076","https://openalex.org/W2134905548","https://openalex.org/W2135946423","https://openalex.org/W2139640372","https://openalex.org/W2148036689","https://openalex.org/W2151757076","https://openalex.org/W2151973555","https://openalex.org/W2152124063","https://openalex.org/W2154122229","https://openalex.org/W2155562608","https://openalex.org/W2156107927","https://openalex.org/W2156291384","https://openalex.org/W2157788198","https://openalex.org/W2161192613","https://openalex.org/W2161424604","https://openalex.org/W2164608717","https://openalex.org/W2167208958","https://openalex.org/W2170828372","https://openalex.org/W2170867798","https://openalex.org/W2279053372","https://openalex.org/W2402951529","https://openalex.org/W2409830622","https://openalex.org/W3191278498","https://openalex.org/W4238589708"],"related_works":["https://openalex.org/W2411576403","https://openalex.org/W7172108420","https://openalex.org/W2063101076","https://openalex.org/W2609600949","https://openalex.org/W2092252945","https://openalex.org/W1510784950","https://openalex.org/W2760210047","https://openalex.org/W2170830038","https://openalex.org/W2729224518","https://openalex.org/W784349101"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}
