{"id":"https://openalex.org/W4407269244","doi":"https://doi.org/10.1038/s41390-025-03819-2","title":"Genomics of pediatric cardiomyopathy","display_name":"Genomics of pediatric cardiomyopathy","publication_year":2025,"publication_date":"2025-02-08","ids":{"openalex":"https://openalex.org/W4407269244","doi":"https://doi.org/10.1038/s41390-025-03819-2","pmid":"https://pubmed.ncbi.nlm.nih.gov/39922924","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12106076"},"language":"en","primary_location":{"id":"doi:10.1038/s41390-025-03819-2","doi":"https://doi.org/10.1038/s41390-025-03819-2","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41390-025-03819-2","pdf_url":"https://www.nature.com/articles/s41390-025-03819-2.pdf","source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["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":"Pediatric Research","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.nature.com/articles/s41390-025-03819-2.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5053624654","display_name":"Teresa M. Lee","orcid":"https://orcid.org/0000-0001-7409-6832","observed_orcids":["https://orcid.org/0000-0001-7409-6832"]},"institutions":[{"id":"https://openalex.org/I2799503643","display_name":"Columbia University Irving Medical Center","ror":"https://ror.org/01esghr10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799503643"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Teresa M. Lee","raw_affiliation_strings":["Department of Pediatrics, Columbia University Medical Center, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Columbia University Medical Center, New York, NY, USA","institution_ids":["https://openalex.org/I2799503643"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020642145","display_name":"Stephanie M. Ware","orcid":"https://orcid.org/0000-0003-4714-0142","observed_orcids":["https://orcid.org/0000-0003-4714-0142"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stephanie M. Ware","raw_affiliation_strings":["Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034167901","display_name":"Alicia M. Kamsheh","orcid":"https://orcid.org/0000-0001-7941-5599","observed_orcids":["https://orcid.org/0000-0001-7941-5599"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alicia M. Kamsheh","raw_affiliation_strings":["Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080904207","display_name":"Surbhi Bhatnagar","orcid":"https://orcid.org/0000-0002-0985-5801","observed_orcids":["https://orcid.org/0000-0002-0985-5801"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Surbhi Bhatnagar","raw_affiliation_strings":["Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA","institution_ids":["https://openalex.org/I1285204247"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044613704","display_name":"Mohammed Ali Absi","orcid":"https://orcid.org/0000-0001-7203-4566","observed_orcids":["https://orcid.org/0000-0001-7203-4566"]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I4210156806","display_name":"Le Bonheur Children's Hospital","ror":"https://ror.org/056wg8a82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210156806"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mohammed Absi","raw_affiliation_strings":["Heart Institute, Division of Pediatric Cardiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Heart Institute, Division of Pediatric Cardiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA","institution_ids":["https://openalex.org/I160606119","https://openalex.org/I4210156806"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Elyse Miller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I4210156806","display_name":"Le Bonheur Children's Hospital","ror":"https://ror.org/056wg8a82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210156806"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elyse Miller","raw_affiliation_strings":["Heart Institute, Division of Pediatric Cardiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Heart Institute, Division of Pediatric Cardiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA","institution_ids":["https://openalex.org/I160606119","https://openalex.org/I4210156806"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013225167","display_name":"Enkhsaikhan Purevjav","orcid":"https://orcid.org/0000-0001-6188-7176","observed_orcids":["https://orcid.org/0000-0001-6188-7176"]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I4210156806","display_name":"Le Bonheur Children's Hospital","ror":"https://ror.org/056wg8a82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210156806"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Enkhsaikhan Purevjav","raw_affiliation_strings":["Heart Institute, Division of Pediatric Cardiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Heart Institute, Division of Pediatric Cardiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA","institution_ids":["https://openalex.org/I160606119","https://openalex.org/I4210156806"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062283690","display_name":"Kaitlin A. Ryan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I4210156806","display_name":"Le Bonheur Children's Hospital","ror":"https://ror.org/056wg8a82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210156806"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kaitlin A. Ryan","raw_affiliation_strings":["Heart Institute, Division of Pediatric Cardiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Heart Institute, Division of Pediatric Cardiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA","institution_ids":["https://openalex.org/I160606119","https://openalex.org/I4210156806"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090814913","display_name":"Jeffrey Allen Towbin","orcid":"https://orcid.org/0000-0002-4182-2786","observed_orcids":["https://orcid.org/0000-0002-4182-2786"]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I4210156806","display_name":"Le Bonheur Children's Hospital","ror":"https://ror.org/056wg8a82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210156806"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeffrey A. Towbin","raw_affiliation_strings":["Heart Institute, Division of Pediatric Cardiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Heart Institute, Division of Pediatric Cardiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN, USA","institution_ids":["https://openalex.org/I160606119","https://openalex.org/I4210156806"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5082899595","display_name":"Steven E. Lipshultz","orcid":"https://orcid.org/0000-0002-2077-6178","observed_orcids":["https://orcid.org/0000-0002-2077-6178"]},"institutions":[{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Steven E. Lipshultz","raw_affiliation_strings":["Department of Pediatrics, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Clinical and Translational Research Center, Buffalo, NY, USA. slipshul@buffalo.edu","Department of Pediatrics, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Clinical and Translational Research Center, Buffalo, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Clinical and Translational Research Center, Buffalo, NY, USA. slipshul@buffalo.edu","institution_ids":["https://openalex.org/I63190737"]},{"raw_affiliation_string":"Department of Pediatrics, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Clinical and Translational Research Center, Buffalo, NY, USA","institution_ids":["https://openalex.org/I63190737"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5082899595"],"corresponding_institution_ids":["https://openalex.org/I63190737"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":{"value":4390,"currency":"USD","value_usd":4390},"fwci":2.8886,"has_fulltext":true,"cited_by_count":16,"citation_normalized_percentile":{"value":0.92559075,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":99},"biblio":{"volume":"97","issue":"4","first_page":"1381","last_page":"1392"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9940999746322632,"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":0.9940999746322632,"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":0.0015999999595806003,"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/T11112","display_name":"Viral Infections and Immunology Research","score":0.0013000000035390258,"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/pediatric-cardiomyopathy","display_name":"pediatric cardiomyopathy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/sarcomere-mutations","display_name":"sarcomere gene mutations","score":0.6959999799728394},{"id":"https://openalex.org/keywords/cytoskeletal-proteins","display_name":"cytoskeletal proteins","score":0.7710000276565552},{"id":"https://openalex.org/keywords/final-common-pathway","display_name":"final common pathway","score":0.7429999709129333},{"id":"https://openalex.org/keywords/myocarditis","display_name":"myocarditis","score":0.8759999871253967},{"id":"https://openalex.org/keywords/arrhythmogenic-cardiomyopathy","display_name":"arrhythmogenic cardiomyopathy","score":0.9169999957084656},{"id":"https://openalex.org/keywords/risk-alleles","display_name":"risk alleles","score":0.8289999961853027},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.9909999966621399},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.921999990940094},{"id":"https://openalex.org/keywords/heart-failure","display_name":"heart failure","score":0.8169999718666077},{"id":"https://openalex.org/keywords/heart-transplantation","display_name":"heart transplantation","score":0.8100000023841858},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"precision medicine","score":0.7099999785423279},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.9789999723434448}],"concepts":[{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.7490991950035095},{"id":"https://openalex.org/C2780654407","wikidata":"https://www.wikidata.org/wiki/Q4253573","display_name":"LMNA","level":4,"score":0.5750448703765869},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.562257707118988},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.557960569858551},{"id":"https://openalex.org/C2780875844","wikidata":"https://www.wikidata.org/wiki/Q186235","display_name":"Myocarditis","level":2,"score":0.5561211109161377},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5469508171081543},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4717429578304291},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.45920994877815247},{"id":"https://openalex.org/C9287583","wikidata":"https://www.wikidata.org/wiki/Q5532883","display_name":"Genetic architecture","level":4,"score":0.4299961030483246},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33058473467826843},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.3225440979003906},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2942173480987549},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2691246569156647},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.26022642850875854},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2289678454399109}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1038/s41390-025-03819-2","doi":"https://doi.org/10.1038/s41390-025-03819-2","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41390-025-03819-2","pdf_url":"https://www.nature.com/articles/s41390-025-03819-2.pdf","source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["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":"Pediatric Research","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12106076","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12106076","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12106076/pdf/41390_2025_Article_3819.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":"Pediatr Res","raw_type":"Text"},{"id":"pmh:oai:europepmc.org:10923535","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12106076","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:39922924","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39922924","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":"Pediatric research","raw_type":"Journal Article"},{"id":"pmh:oai:digitalcommons.wustl.edu:oa_4-7460","doi":null,"is_oa":true,"landing_page_url":"https://digitalcommons.wustl.edu/oa_4/6480","pdf_url":"https://digitalcommons.wustl.edu/cgi/viewcontent.cgi?article=7460&context=oa_4","source":{"id":"https://openalex.org/S4306400764","display_name":"Digital Commons@Becker (Washington University School of Medicine)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I204465549","host_organization_name":"Washington University in St. Louis","host_organization_lineage":["https://openalex.org/I204465549"],"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":"2020-Current year OA Pubs","raw_type":"text"},{"id":"pmh:oai:scholarworks.indianapolis.iu.edu:1805/48838","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/1805/48838","pdf_url":"https://scholarworks.indianapolis.iu.edu/bitstreams/00076467-3793-4caa-9297-5498c774fcb7/download","source":{"id":"https://openalex.org/S4306400987","display_name":"IUScholarWorks (Indiana University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I592451","host_organization_name":"Indiana University","host_organization_lineage":["https://openalex.org/I592451"],"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":"PMC","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1038/s41390-025-03819-2","doi":"https://doi.org/10.1038/s41390-025-03819-2","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41390-025-03819-2","pdf_url":"https://www.nature.com/articles/s41390-025-03819-2.pdf","source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["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":"Pediatric Research","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Industry, innovation and infrastructure","score":0.5199999809265137,"id":"https://metadata.un.org/sdg/9"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1744012463","display_name":"Pediatric Cardiomyopathy Registry","funder_award_id":"R01HL053392","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G2079073367","display_name":"Training Program in Cardiovascular Signaling","funder_award_id":"T32HL007188","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G2185323009","display_name":"Genetic Mechanisms of Anthracycline Cardiotoxicity in Pediatric Cancer Survivors","funder_award_id":"R01CA127642","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G2223217063","display_name":"Atherosclerotic Risk and Response to Exercise Intervention in HIV+ Children","funder_award_id":"R01HL095127","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G2757098785","display_name":"Cardiovascular Status of HAART-Exposed Infants/Children","funder_award_id":"R01HL072705","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G4063275347","display_name":"Pediatric Cardiomyopathy Specimen Repository","funder_award_id":"R01HL087000","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G4625201692","display_name":"Pediatric HIV/AIDS Cohort Study (PHACS) Coordinating Center (CC) (U01)","funder_award_id":"U01HD052104","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G4813928823","display_name":"Therapeutic Index of Acute Lymphoblastic Leukemia","funder_award_id":"P01CA068484","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G4959170915","display_name":"HAART Associated Cardiotoxicity in HIV-Infected Children","funder_award_id":"R01HL078522","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G5113164588","display_name":"Primary Cardiomyopathies in Children: Research Directions & Strategies","funder_award_id":"R13HL087708","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G5560106399","display_name":null,"funder_award_id":"HD80002","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6037208983","display_name":"Women and Infants Transmission Study IV","funder_award_id":"U01AI050274","funder_id":"https://openalex.org/F4320337355","funder_display_name":"National Institute of Allergy and Infectious Diseases"},{"id":"https://openalex.org/G6373653778","display_name":"Baseline Predictors of Outcomes of Pediatric Dilated Cardiomyopathy","funder_award_id":"F31HL094100","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G7161945251","display_name":"Pediatric HIV/AIDS Cohort Study (PHACS): Data and Operations Center (DOC).","funder_award_id":"U01HD052102","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G7349880862","display_name":"FELLOWSHIP IN CLINICAL RESEARCH","funder_award_id":"K30HL004537","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G7947996496","display_name":null,"funder_award_id":"HL079233","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000029296","display_name":null,"funder_award_id":"CA068484","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000036457","display_name":null,"funder_award_id":"HL053392","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320306236","display_name":"Lance Armstrong Foundation","ror":"https://ror.org/04ndvz759"},{"id":"https://openalex.org/F4320306888","display_name":"Armstrong Foundation","ror":"https://ror.org/006p7vb38"},{"id":"https://openalex.org/F4320307765","display_name":"Pfizer","ror":"https://ror.org/01xdqrp08"},{"id":"https://openalex.org/F4320311481","display_name":"Children's Cardiomyopathy Foundation","ror":"https://ror.org/034j0b057"},{"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"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337355","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4407269244.pdf","grobid_xml":"https://content.openalex.org/works/W4407269244.grobid-xml"},"referenced_works_count":161,"referenced_works":["https://openalex.org/W52148612","https://openalex.org/W1487741670","https://openalex.org/W1489130191","https://openalex.org/W1512187276","https://openalex.org/W1565633801","https://openalex.org/W1592908151","https://openalex.org/W1870676188","https://openalex.org/W1965801360","https://openalex.org/W1970413157","https://openalex.org/W1974332070","https://openalex.org/W1974383169","https://openalex.org/W1978503782","https://openalex.org/W1978998179","https://openalex.org/W1984211951","https://openalex.org/W1984770008","https://openalex.org/W1993956967","https://openalex.org/W2000255760","https://openalex.org/W2002208962","https://openalex.org/W2009667615","https://openalex.org/W2011075614","https://openalex.org/W2017010978","https://openalex.org/W2020313760","https://openalex.org/W2024405748","https://openalex.org/W2024813774","https://openalex.org/W2034787160","https://openalex.org/W2035771990","https://openalex.org/W2042346825","https://openalex.org/W2043985983","https://openalex.org/W2047169502","https://openalex.org/W2051135789","https://openalex.org/W2051978340","https://openalex.org/W2054284985","https://openalex.org/W2059145105","https://openalex.org/W2059884663","https://openalex.org/W2060017281","https://openalex.org/W2062140554","https://openalex.org/W2062502129","https://openalex.org/W2063779850","https://openalex.org/W2064607220","https://openalex.org/W2066317833","https://openalex.org/W2066399122","https://openalex.org/W2067433671","https://openalex.org/W2069064895","https://openalex.org/W2076334650","https://openalex.org/W2082173027","https://openalex.org/W2086266356","https://openalex.org/W2086578965","https://openalex.org/W2094163523","https://openalex.org/W2099388344","https://openalex.org/W2100867326","https://openalex.org/W2101175755","https://openalex.org/W2108257604","https://openalex.org/W2110054762","https://openalex.org/W2113202677","https://openalex.org/W2127904701","https://openalex.org/W2143970053","https://openalex.org/W2146076330","https://openalex.org/W2146587637","https://openalex.org/W2147262390","https://openalex.org/W2148907793","https://openalex.org/W2154545804","https://openalex.org/W2165798592","https://openalex.org/W2167363119","https://openalex.org/W2171231665","https://openalex.org/W2175990513","https://openalex.org/W2195303995","https://openalex.org/W2237037688","https://openalex.org/W2237393579","https://openalex.org/W2256016639","https://openalex.org/W2259449298","https://openalex.org/W2320022870","https://openalex.org/W2345726998","https://openalex.org/W2409190084","https://openalex.org/W2411149406","https://openalex.org/W2412918382","https://openalex.org/W2431049581","https://openalex.org/W2517515998","https://openalex.org/W2521967673","https://openalex.org/W2558155481","https://openalex.org/W2579055326","https://openalex.org/W2583025663","https://openalex.org/W2597723303","https://openalex.org/W2600163946","https://openalex.org/W2601128642","https://openalex.org/W2606596144","https://openalex.org/W2756203218","https://openalex.org/W2767083495","https://openalex.org/W2769786748","https://openalex.org/W2770026599","https://openalex.org/W2791920704","https://openalex.org/W2797207722","https://openalex.org/W2805586958","https://openalex.org/W2807866253","https://openalex.org/W2808048003","https://openalex.org/W2895781865","https://openalex.org/W2895855977","https://openalex.org/W2897497885","https://openalex.org/W2898679697","https://openalex.org/W2899414916","https://openalex.org/W2904862315","https://openalex.org/W2927736375","https://openalex.org/W2933947281","https://openalex.org/W2938273454","https://openalex.org/W2944140727","https://openalex.org/W2944700506","https://openalex.org/W2952869142","https://openalex.org/W2964224905","https://openalex.org/W2986884308","https://openalex.org/W2998882997","https://openalex.org/W3010341942","https://openalex.org/W3018268201","https://openalex.org/W3021741675","https://openalex.org/W3025846957","https://openalex.org/W3029661147","https://openalex.org/W3030387742","https://openalex.org/W3033703684","https://openalex.org/W3035314471","https://openalex.org/W3091439813","https://openalex.org/W3092415006","https://openalex.org/W3092634594","https://openalex.org/W3103940138","https://openalex.org/W3125296262","https://openalex.org/W3158927534","https://openalex.org/W3159291618","https://openalex.org/W3176366472","https://openalex.org/W3180076313","https://openalex.org/W3190606092","https://openalex.org/W3204829589","https://openalex.org/W4205978272","https://openalex.org/W4211105851","https://openalex.org/W4245028961","https://openalex.org/W4280514582","https://openalex.org/W4283741799","https://openalex.org/W4283746602","https://openalex.org/W4286776239","https://openalex.org/W4289998071","https://openalex.org/W4292180500","https://openalex.org/W4294898335","https://openalex.org/W4297226827","https://openalex.org/W4310567919","https://openalex.org/W4381620505","https://openalex.org/W4381996226","https://openalex.org/W4385441674","https://openalex.org/W4386152544","https://openalex.org/W4386254038","https://openalex.org/W4386271663","https://openalex.org/W4386700197","https://openalex.org/W4386861232","https://openalex.org/W4388952003","https://openalex.org/W4390616142","https://openalex.org/W4390774356","https://openalex.org/W4392093831","https://openalex.org/W4392957328","https://openalex.org/W4393114497","https://openalex.org/W4393120092","https://openalex.org/W4393861336","https://openalex.org/W4394745218","https://openalex.org/W4401494461","https://openalex.org/W4402058291","https://openalex.org/W4403468064","https://openalex.org/W4404106652"],"related_works":["https://openalex.org/W2762666926","https://openalex.org/W3150099713","https://openalex.org/W2897616989","https://openalex.org/W4305082745","https://openalex.org/W2345726998","https://openalex.org/W2885344095","https://openalex.org/W3178418973","https://openalex.org/W3159291618","https://openalex.org/W2012318512","https://openalex.org/W3188270942"],"abstract_inverted_index":{"Cardiomyopathy":[0,198],"in":[1,20,59,79,94,151,178,204,222,259,266,279],"children":[2],"is":[3,31,240],"a":[4,17,91,169,185,244,254],"leading":[5],"cause":[6],"of":[7,23,27,38,45,76,113,119,130,156,163,165,233,238,247,274,276],"heart":[8],"failure":[9],"and":[10,52,61,85,116,128,141,193,199,250,285],"cardiac":[11],"transplantation.":[12],"Disease-associated":[13],"genetic":[14,63,123,134,154,176,251,257,280],"variants":[15,164,275],"play":[16,90],"significant":[18],"role":[19,93],"the":[21,24,36,66,96,110,126,131,153,160,205,271],"development":[22,127],"different":[25],"subtypes":[26],"disease.":[28,234],"Genetic":[29],"testing":[30,64,258],"increasingly":[32],"being":[33],"recognized":[34],"as":[35,184],"standard":[37],"care":[39],"for":[40,174,214],"diagnosing":[41],"this":[42,74,179],"heterogeneous":[43,236],"group":[44,75],"disorders,":[46],"guiding":[47],"management,":[48],"providing":[49],"prognostic":[50],"information,":[51],"facilitating":[53],"family-based":[54],"risk":[55,135,268],"stratification.":[56],"The":[57,172,235],"increase":[58],"clinical":[60,98,161,292],"research":[62],"within":[65],"field":[67,180],"has":[68],"led":[69],"to":[70,89,187,209,243,256,289],"new":[71],"insights":[72],"into":[73],"disorders.":[77],"Mutations":[78],"genes":[80],"encoding":[81],"sarcomere,":[82],"cytoskeletal,":[83],"Z-disk,":[84],"sarcolemma":[86],"proteins":[87],"appear":[88],"major":[92,170],"causing":[95],"overlapping":[97],"phenotypes":[99],"called":[100],"cardioskeletal":[101],"myopathies":[102],"through":[103],"\"final":[104],"common":[105,230],"pathway\"":[106],"links.":[107],"For":[108],"myocarditis,":[109,263],"high":[111,272],"frequency":[112],"infectious":[114],"exposures":[115],"wide":[117],"spectrum":[118],"presentation":[120,237],"suggest":[121],"that":[122,212,227],"factors":[124],"mediate":[125],"course":[129],"disease,":[132],"including":[133],"alleles,":[136],"an":[137],"association":[138],"with":[139,262],"cardiomyopathy,":[140,158],"undiagnosed":[142],"arrhythmogenic":[143],"cardiomyopathy.":[144],"Finally,":[145],"while":[146],"we":[147],"have":[148],"made":[149],"strides":[150],"elucidating":[152],"architecture":[155],"pediatric":[157,260],"understanding":[159],"implications":[162],"uncertain":[166,277],"significance":[167,278],"remains":[168,181],"issue.":[171],"need":[173],"continued":[175],"innovation":[177],"great,":[182],"particularly":[183,264],"basis":[186],"drive":[188],"forward":[189],"targeted":[190],"precision":[191],"medicine":[192],"gene":[194,210],"therapy":[195],"efforts.":[196],"IMPACT:":[197],"skeletal":[200],"myopathy":[201],"can":[202],"occur":[203],"same":[206],"patient":[207],"secondary":[208,242],"mutations":[211],"encode":[213],"sarcomeric":[215],"or":[216],"cytoskeletal":[217],"proteins,":[218],"which":[219],"are":[220,229,287],"expressed":[221],"both":[223],"muscle":[224],"groups,":[225],"highlighting":[226],"there":[228],"final":[231],"pathways":[232],"myocarditis":[239],"likely":[241],"complex":[245],"interaction":[246],"multiple":[248],"environmental":[249],"factors,":[252],"suggesting":[253],"utility":[255],"patients":[261],"those":[265],"higher":[267],"groups.":[269],"Given":[270],"prevalence":[273],"testing,":[281],"better":[282],"bioinformatic":[283],"tools":[284],"pipelines":[286],"needed":[288],"resolve":[290],"their":[291],"meaning.":[293]},"counts_by_year":[{"year":2026,"cited_by_count":9},{"year":2025,"cited_by_count":7}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2025-02-08T00:00:00"}