{"id":"https://openalex.org/W1968217529","doi":"https://doi.org/10.1159/000328638","title":"Heritable Cardiac Conduction and Myocardial Disease: From the Clinic to the Basic Science Laboratory and Back to the Clinic","display_name":"Heritable Cardiac Conduction and Myocardial Disease: From the Clinic to the Basic Science Laboratory and Back to the Clinic","publication_year":2011,"publication_date":"2011-01-01","ids":{"openalex":"https://openalex.org/W1968217529","doi":"https://doi.org/10.1159/000328638","mag":"1968217529","pmid":"https://pubmed.ncbi.nlm.nih.gov/21691096"},"language":"en","primary_location":{"id":"doi:10.1159/000328638","doi":"https://doi.org/10.1159/000328638","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000328638","pdf_url":null,"source":{"id":"https://openalex.org/S4210184113","display_name":"Cardiology","issn_l":"0008-6312","issn":["0008-6312","1421-9751"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cardiology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5109293962","display_name":"Elizabeth A. Sparks","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I4210150714","display_name":"Johns Hopkins Hospital","ror":"https://ror.org/05cb1k848","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436","https://openalex.org/I4210150714"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elizabeth A. Sparks","raw_affiliation_strings":["Johns Hopkins Hospital, Baltimore, Md., USA","Johns Hopkins Hospital, Baltimore, Md.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Johns Hopkins Hospital, Baltimore, Md., USA","institution_ids":["https://openalex.org/I4210150714"]},{"raw_affiliation_string":"Johns Hopkins Hospital, Baltimore, Md.,","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I4210150714"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086734765","display_name":"Konstantinos Dean Boudoulas","orcid":"https://orcid.org/0000-0003-0625-8750","observed_orcids":["https://orcid.org/0000-0003-0625-8750"]},"institutions":[{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Konstantinos Dean Boudoulas","raw_affiliation_strings":["Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, and","institution_ids":["https://openalex.org/I52357470"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037038264","display_name":"Subha V. Raman","orcid":"https://orcid.org/0000-0002-6013-0689","observed_orcids":["https://orcid.org/0000-0002-6013-0689","https://orcid.org/0000-0003-0137-0428"]},"institutions":[{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Subha V. Raman","raw_affiliation_strings":["Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, and","institution_ids":["https://openalex.org/I52357470"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027591869","display_name":"Takeshi Sasaki","orcid":"https://orcid.org/0000-0001-5085-0810","observed_orcids":["https://orcid.org/0000-0001-5085-0810"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Takeshi Sasaki","raw_affiliation_strings":["Harvard Medical School and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harvard Medical School and","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Harry L. Graber","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Harry L. Graber","raw_affiliation_strings":["Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, and","institution_ids":["https://openalex.org/I52357470"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100828168","display_name":"Steven D. Nelson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Steven D. Nelson","raw_affiliation_strings":["Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, and","institution_ids":["https://openalex.org/I52357470"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005091829","display_name":"Christine E. Seidman","orcid":"https://orcid.org/0000-0001-6380-1209","observed_orcids":["https://orcid.org/0000-0001-6380-1209"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christine E. Seidman","raw_affiliation_strings":["Cardiovascular Genetics Center, Brigham and Women's Hospital, Department of Genetics, Harvard Medical School, Boston, Mass., USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular Genetics Center, Brigham and Women's Hospital, Department of Genetics, Harvard Medical School, Boston, Mass., USA","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005862923","display_name":"Harisios K Boudoulas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I206127235","display_name":"Academy of Athens","ror":"https://ror.org/00qsdn986","country_code":"GR","type":"education","lineage":["https://openalex.org/I206127235"]},{"id":"https://openalex.org/I4210093138","display_name":"Biomedical Research Foundation of the Academy of Athens","ror":"https://ror.org/00gban551","country_code":"GR","type":"nonprofit","lineage":["https://openalex.org/I4210093138"]},{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["GR","US"],"is_corresponding":false,"raw_author_name":"Harisios Boudoulas","raw_affiliation_strings":["Biomedical Research Foundation, Academy of Athens, Athens, Greece","Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biomedical Research Foundation, Academy of Athens, Athens, Greece","institution_ids":["https://openalex.org/I206127235","https://openalex.org/I4210093138"]},{"raw_affiliation_string":"Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, and","institution_ids":["https://openalex.org/I52357470"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.8773,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.77838651,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"118","issue":"3","first_page":"179","last_page":"186"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.8852999806404114,"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":0.8852999806404114,"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.07699999958276749,"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":0.005100000184029341,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/lmna-mutations","display_name":"LMNA mutations","score":0.765999972820282},{"id":"https://openalex.org/keywords/laminopathies","display_name":"laminopathies","score":0.6779999732971191},{"id":"https://openalex.org/keywords/inherited-cardiomyopathy","display_name":"familial cardiomyopathy","score":0.550000011920929},{"id":"https://openalex.org/keywords/sinus-bradycardia","display_name":"sinus bradycardia","score":0.8389999866485596},{"id":"https://openalex.org/keywords/atrioventricular-conduction-defects","display_name":"atrioventricular conduction defects","score":0.8730000257492065},{"id":"https://openalex.org/keywords/atrial-fibrillation","display_name":"atrial fibrillation","score":0.8550000190734863},{"id":"https://openalex.org/keywords/supraventricular-arrhythmias","display_name":"supraventricular arrhythmias","score":0.9629999995231628},{"id":"https://openalex.org/keywords/heart-failure","display_name":"heart failure","score":0.9660000205039978},{"id":"https://openalex.org/keywords/sudden-cardiac-death","display_name":"sudden cardiac death","score":1.0},{"id":"https://openalex.org/keywords/pedigree-analysis","display_name":"pedigree analysis","score":0.5820000171661377}],"concepts":[{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6023222208023071},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5662047863006592},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.4849993884563446},{"id":"https://openalex.org/C2775935837","wikidata":"https://www.wikidata.org/wiki/Q202837","display_name":"Sudden cardiac death","level":2,"score":0.4572742283344269},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.44892311096191406},{"id":"https://openalex.org/C2779161974","wikidata":"https://www.wikidata.org/wiki/Q815819","display_name":"Atrial fibrillation","level":2,"score":0.4482989013195038},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4045042395591736},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.3580586314201355},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20358070731163025},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11090663075447083},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001145","descriptor_name":"Arrhythmias, Cardiac","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001145","descriptor_name":"Arrhythmias, Cardiac","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":false},{"descriptor_ui":"D001145","descriptor_name":"Arrhythmias, Cardiac","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"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":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D009820","descriptor_name":"Ohio","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016757","descriptor_name":"Death, Sudden, Cardiac","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D016757","descriptor_name":"Death, Sudden, Cardiac","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D061213","descriptor_name":"Mortality, Premature","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1159/000328638","doi":"https://doi.org/10.1159/000328638","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000328638","pdf_url":null,"source":{"id":"https://openalex.org/S4210184113","display_name":"Cardiology","issn_l":"0008-6312","issn":["0008-6312","1421-9751"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cardiology","raw_type":"journal-article"},{"id":"pmid:21691096","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21691096","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":"Cardiology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.6899999976158142,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1487741670","https://openalex.org/W1984770008","https://openalex.org/W1997713937","https://openalex.org/W2003809526","https://openalex.org/W2042346825","https://openalex.org/W2053721521","https://openalex.org/W2066501944","https://openalex.org/W2070071827","https://openalex.org/W2091704384","https://openalex.org/W2121245479","https://openalex.org/W2140265911","https://openalex.org/W2145293134","https://openalex.org/W2158428022","https://openalex.org/W2160465035","https://openalex.org/W3139601660","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W3103637487","https://openalex.org/W3014726761","https://openalex.org/W2557842721","https://openalex.org/W7096923733","https://openalex.org/W2800791287","https://openalex.org/W4238249061","https://openalex.org/W2995465183","https://openalex.org/W1977854285","https://openalex.org/W2811371248","https://openalex.org/W4381715490"],"abstract_inverted_index":{"A":[0],"close":[1],"collaboration":[2],"between":[3],"the":[4,7,16,20,31,36,40,121,124,128,139,148,151,154,167],"physicians-scientists":[5],"of":[6,9,19,22,59,120,130,153,174],"Division":[8],"Cardiology,":[10],"The":[11,54,118,156],"Ohio":[12,51],"State":[13],"University":[14],"and":[15,35,43,81,123,177],"basic":[17,125,168],"scientists":[18],"Department":[21],"Genetics,":[23],"Harvard":[24],"Medical":[25],"School":[26],"was":[27],"essential":[28],"to":[29,170],"define":[30,171],"multiple":[32,64],"phenotypic":[33],"expressions":[34],"genetic":[37],"abnormalities":[38],"in":[39,46,144,161],"heritable":[41,131],"conduction":[42,70],"myocardial":[44],"disease":[45,164,176],"a":[47,86,99,106,162],"family":[48],"from":[49],"central":[50],"(Family":[52],"OSU).":[53],"Family":[55],"OSU":[56],"presents":[57],"evidence":[58],"sequential":[60],"hierarchical":[61],"progression":[62],"through":[63],"cardiac":[65,83],"phenotypes":[66],"(sinus":[67],"bradycardia,":[68],"atrioventricular":[69],"defects":[71],"requiring":[72],"pacemaker,":[73],"supraventricular":[74],"arrhythmias":[75],"including":[76],"atrial":[77],"fibrillation,":[78],"heart":[79],"failure,":[80],"sudden":[82],"death)":[84],"on":[85],"decade-to-decade":[87],"basis.":[88],"In":[89],"this":[90],"setting,":[91],"each":[92],"phenotype":[93],"may":[94],"be":[95],"mistakenly":[96],"considered":[97],"as":[98],"specific":[100],"diagnosis":[101],"by":[102,178],"physicians":[103],"working":[104],"without":[105],"pedigree":[107],"or":[108],"long-term":[109],"follow-up.":[110],"Genetic":[111],"analysis,":[112],"however,":[113,141],"confirms":[114],"lamin":[115],"A/C":[116],"mutation.":[117],"role":[119],"physician-scientist":[122,157],"scientist":[126,169],"for":[127,183],"study":[129],"disorders":[132],"is":[133,143],"equally":[134],"important":[135,181],"but":[136],"different.":[137],"Only":[138],"physician-scientist,":[140],"who":[142],"constant":[145],"contact":[146],"with":[147,158],"patient":[149],"understands":[150],"complexity":[152],"disease.":[155],"an":[159],"interest":[160],"particular":[163],"can":[165],"guide":[166],"molecular":[172],"mechanisms":[173],"that":[175],"extension":[179],"learn":[180],"lessons":[182],"other":[184],"diseases.":[185]},"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
