{"id":"https://openalex.org/W118907728","doi":null,"title":"Genetics and genetic testing of dilated cardiomyopathy: a new perspective.","display_name":"Genetics and genetic testing of dilated cardiomyopathy: a new perspective.","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W118907728","mag":"118907728","pmid":"https://pubmed.ncbi.nlm.nih.gov/23375013","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3929942"},"language":"en","primary_location":{"id":"pmid:23375013","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23375013","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":"Discovery medicine","raw_type":"Journal Article"},"volume":null,"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3929942","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5067654253","display_name":"Luisa Mestroni","orcid":"https://orcid.org/0000-0003-1116-2286","observed_orcids":["https://orcid.org/0000-0003-1116-2286"]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]},{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Luisa Mestroni","raw_affiliation_strings":["Cardiovascular Institute, University of Colorado, Aurora, CO 80305, USA. luisa.mestroni@ucdenver.edu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular Institute, University of Colorado, Aurora, CO 80305, USA. luisa.mestroni@ucdenver.edu","institution_ids":["https://openalex.org/I51713134","https://openalex.org/I921990950"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5066041440","display_name":"Matthew R.G. Taylor","orcid":"https://orcid.org/0000-0001-9043-0810","observed_orcids":["https://orcid.org/0000-0001-9043-0810"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Matthew R G Taylor","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":3.3998,"has_fulltext":false,"cited_by_count":31,"citation_normalized_percentile":{"value":0.92895942,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"15","issue":"80","first_page":"43","last_page":"9"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9980000257492065,"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":0.9980000257492065,"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/T11922","display_name":"Cardiovascular Effects of Exercise","score":0.0007999999797903001,"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":0.0005000000237487257,"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/dilated-cardiomyopathy","display_name":"dilated cardiomyopathy","score":1.0},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.9670000076293945},{"id":"https://openalex.org/keywords/titin","display_name":"titin","score":0.8790000081062317},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8870000243186951},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.8080000281333923},{"id":"https://openalex.org/keywords/family-screening","display_name":"family screening","score":0.7649999856948853},{"id":"https://openalex.org/keywords/asymptomatic-carriers","display_name":"asymptomatic carriers","score":0.7540000081062317},{"id":"https://openalex.org/keywords/preimplantation-genetic-diagnosis","display_name":"preimplantation genetic diagnosis","score":0.8949999809265137},{"id":"https://openalex.org/keywords/defibrillator-implantation","display_name":"defibrillator implantation","score":0.7429999709129333},{"id":"https://openalex.org/keywords/reproductive-decision-making","display_name":"reproductive decision-making","score":0.7509999871253967}],"concepts":[{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.7540688514709473},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.6727740168571472},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.500680685043335},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.4111815392971039},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4040214717388153},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3666721284389496},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.34512728452682495},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.11766806244850159},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.11081019043922424},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.08722785115242004}],"mesh":[{"descriptor_ui":"D002311","descriptor_name":"Cardiomyopathy, Dilated","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002311","descriptor_name":"Cardiomyopathy, Dilated","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011494","descriptor_name":"Protein Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064211","descriptor_name":"Connectin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"pmid:23375013","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23375013","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":"Discovery medicine","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:2912163","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3929942","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3929942","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3929942","pdf_url":null,"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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Discov Med","raw_type":"Text"},{"id":"mag:118907728","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23375013","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":{"id":"pmh:oai:europepmc.org:2912163","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3929942","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"score":0.9922999739646912,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1830755336","display_name":"Whole genome DNA sequencing to identify novel genes in dilated cardiomyopathy","funder_award_id":"R01HL109209","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G5853261428","display_name":"Colorado Clinical and Translational Sciences Institute","funder_award_id":"UL1TR001082","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":1,"referenced_works":["https://openalex.org/W113741704"],"related_works":["https://openalex.org/W4200473988","https://openalex.org/W3143468347","https://openalex.org/W7138863111","https://openalex.org/W2086554842","https://openalex.org/W7166070263","https://openalex.org/W2171759754","https://openalex.org/W4293762683","https://openalex.org/W3215029657","https://openalex.org/W7167455445","https://openalex.org/W3208625175"],"abstract_inverted_index":{"The":[0,77],"completion":[1],"of":[2,21,38,49,61,80,83,104,114,124,144,153,169,193],"the":[3,19,36,59,74,81,142,167],"Human":[4],"Genome":[5],"Project":[6],"was":[7],"a":[8,47],"landmark":[9],"achievement,":[10],"but":[11,51],"as":[12,174,176],"clinical":[13],"genetic":[14,23,94,129,145,161,195],"testing":[15,95,162],"becomes":[16],"more":[17,99,118],"mainstream,":[18],"extent":[20],"remarkable":[22],"variation":[24],"is":[25,148],"increasingly":[26],"being":[27],"appreciated.":[28],"Newer":[29],"DNA":[30],"sequencing":[31,37],"technology":[32],"can":[33,186],"now":[34],"complete":[35],"an":[39,127],"entire":[40],"human":[41],"genome":[42],"several":[43],"times":[44],"over":[45,140],"in":[46,69,73,88,96,110],"matter":[48],"days,":[50],"this":[52,97],"will":[53,92,107],"undoubtedly":[54],"add":[55],"new":[56],"challenges":[57],"to":[58,131,135],"difficulty":[60],"distinguishing":[62],"true":[63],"pathogenic":[64],"variants":[65,68],"from":[66],"benign":[67],"diagnostic":[70,196],"genetics":[71],"and":[72,116,134,138,171,182],"research":[75],"setting.":[76],"recent":[78],"discovery":[79],"role":[82],"titin":[84],"gene":[85],"(TTN)":[86],"mutations":[87],"dilated":[89],"cardiomyopathy":[90],"(DCM)":[91],"make":[93],"disease":[98,115],"efficient.":[100],"Furthermore,":[101],"better":[102],"understanding":[103],"genotype-phenotype":[105],"associations":[106],"assist":[108],"clinicians":[109],"identifying":[111],"early":[112],"stages":[113],"providing":[117],"appropriate":[119],"treatments.":[120],"This":[121],"high":[122],"level":[123],"complexity":[125],"requires":[126],"expert":[128],"team":[130],"offer":[132],"counseling":[133],"manage,":[136],"deliver,":[137],"follow-up":[139],"time":[141],"results":[143],"testing,":[146],"which":[147],"particularly":[149],"important":[150],"for":[151,166,177],"screening":[152],"family":[154],"members":[155],"potentially":[156],"at":[157],"risk.":[158],"In":[159],"DCM,":[160],"may":[163],"be":[164],"useful":[165],"identification":[168],"non-carriers":[170],"asymptomatic":[172],"carriers,":[173],"well":[175],"prevention":[178],"strategies,":[179],"sport":[180],"recommendations,":[181],"defibrillator":[183],"implantation.":[184],"It":[185],"also":[187],"guide":[188],"reproductive":[189],"decision-making":[190],"including":[191],"utilization":[192],"pre-implantation":[194],"strategies.":[197]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":5}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
