{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T19:38:33Z","timestamp":1793216313758,"version":"4.5.0"},"reference-count":29,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,3,21]],"date-time":"2024-03-21T00:00:00Z","timestamp":1710979200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG009599"],"award-info":[{"award-number":["U01HG009599"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG009610"],"award-info":[{"award-number":["U01HG009610"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UM1HG007301"],"award-info":[{"award-number":["UM1HG007301"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Human Genetics and Genomics Advances"],"published-print":{"date-parts":[[2024,7]]},"DOI":"10.1016\/j.xhgg.2024.100286","type":"journal-article","created":{"date-parts":[[2024,3,23]],"date-time":"2024-03-23T09:38:11Z","timestamp":1711186691000},"page":"100286","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease"],"prefix":"10.1016","volume":"5","author":[{"given":"Anne M.","family":"Slavotinek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle L.","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa J.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce D.","family":"Gelb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.xhgg.2024.100286_bib28","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.jacc.2011.08.025","article-title":"Birth prevalence of congenital heart disease worldwide: A systematic review and meta-analysis","volume":"58","author":"van der Linde","year":"2011","journal-title":"J.\u00a0Am. Coll. Cardiol."},{"key":"10.1016\/j.xhgg.2024.100286_bib8","first-page":"773","article-title":"Trends in infant mortality attributable to birth defects--United States, 1980-1995","volume":"47","year":"1998","journal-title":"MMWR Morb. Mortal. Wkly. Rep."},{"key":"10.1016\/j.xhgg.2024.100286_bib17","doi-asserted-by":"crossref","DOI":"10.1161\/HCG.0000000000000067","article-title":"Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association","volume":"13","author":"Musunuru","year":"2020","journal-title":"Circ. Genom. Precis. Med."},{"key":"10.1016\/j.xhgg.2024.100286_bib19","doi-asserted-by":"crossref","first-page":"e1149","DOI":"10.1542\/peds.2013-3189","article-title":"Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines","volume":"134","author":"Pierpont","year":"2014","journal-title":"Pediatrics"},{"key":"10.1016\/j.xhgg.2024.100286_bib18","doi-asserted-by":"crossref","first-page":"3015","DOI":"10.1161\/CIRCULATIONAHA.106.183056","article-title":"Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Dis- ease in the Young: endorsed by the American Academy of Pediatrics","volume":"115","author":"Pierpont","year":"2007","journal-title":"Circulation"},{"key":"10.1016\/j.xhgg.2024.100286_bib20","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1161\/CIR.0000000000000606","article-title":"Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association","volume":"138","author":"Pierpont","year":"2018","journal-title":"Circulation"},{"key":"10.1016\/j.xhgg.2024.100286_bib14","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1038\/s41436-021-01242-6","article-title":"Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)","volume":"23","author":"Manickam","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.xhgg.2024.100286_bib10","doi-asserted-by":"crossref","DOI":"10.1016\/j.jpeds.2023.113495","article-title":"Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects","volume":"260","author":"Durbin","year":"2023","journal-title":"J.\u00a0Pediatr."},{"key":"10.1016\/j.xhgg.2024.100286_bib2","doi-asserted-by":"crossref","first-page":"3090","DOI":"10.1002\/ajmg.a.37891","article-title":"Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit","volume":"170","author":"Ahrens-Nicklas","year":"2016","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.xhgg.2024.100286_bib5","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/bdra.20403","article-title":"Seeking causes: classifying and evaluating congenital heart defects in etiologic studies","volume":"79","author":"Botto","year":"2007","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.xhgg.2024.100286_bib4","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.ajhg.2018.08.007","article-title":"The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations","volume":"103","author":"Amendola","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.xhgg.2024.100286_bib24","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1038\/s41525-023-00353-0","article-title":"Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population","volume":"8","author":"Slavotinek","year":"2023","journal-title":"NPJ Genom. Med."},{"key":"10.1016\/j.xhgg.2024.100286_bib1","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2023.100880","article-title":"Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients","volume":"25","author":"Abul-Husn","year":"2023","journal-title":"Genet. Med."},{"key":"10.1016\/j.xhgg.2024.100286_bib7","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/j.gim.2021.11.020","article-title":"Genome sequencing as a first-line diagnostic test for hospitalized infants","volume":"24","author":"Bowling","year":"2022","journal-title":"Genet. Med."},{"key":"10.1016\/j.xhgg.2024.100286_bib15","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/ajmg.a.61450","article-title":"A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy","volume":"182","author":"Mendelsohn","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.xhgg.2024.100286_bib6","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s13073-017-0433-1","article-title":"Genomic diagnosis for children with intellectual disability and\/or developmental delay","volume":"9","author":"Bowling","year":"2017","journal-title":"Genome Med."},{"key":"10.1016\/j.xhgg.2024.100286_bib12","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/j.ajhg.2016.04.011","article-title":"Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine","volume":"98","author":"Green","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.xhgg.2024.100286_bib21","doi-asserted-by":"crossref","first-page":"S258","DOI":"10.1016\/S1096-7192(21)00479-0","article-title":"Making the case for higher-level classification of results reporting: development and implementation of case-level result categories for genetic testing","volume":"132","author":"Powell","year":"2021","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.xhgg.2024.100286_bib3","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1038\/s41436-018-0296-x","article-title":"Identification of clinically actionable variants from genome sequencing of families with congenital heart disease","volume":"21","author":"Alankarage","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.xhgg.2024.100286_bib23","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.jpeds.2020.07.065","article-title":"A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy","volume":"227","author":"Shikany","year":"2020","journal-title":"J.\u00a0Pediatr."},{"key":"10.1016\/j.xhgg.2024.100286_bib16","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/uog.22072","article-title":"Congenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review","volume":"57","author":"Mone","year":"2021","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"10.1016\/j.xhgg.2024.100286_bib29","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1002\/ehf2.14209","article-title":"Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting","volume":"10","author":"Yi","year":"2023","journal-title":"ESC Heart Fail."},{"key":"10.1016\/j.xhgg.2024.100286_bib11","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1038\/s41525-018-0049-4","article-title":"Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization","volume":"3","author":"Farnaes","year":"2018","journal-title":"NPJ Genom. Med."},{"key":"10.1016\/j.xhgg.2024.100286_bib25","article-title":"Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders","volume":"6","author":"Smith","year":"2015","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"10.1016\/j.xhgg.2024.100286_bib27","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1038\/s41525-021-00192-x","article-title":"Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease","volume":"6","author":"Sweeney","year":"2021","journal-title":"NPJ Genom. Med."},{"key":"10.1016\/j.xhgg.2024.100286_bib9","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1001\/jamacardio.2022.2455","article-title":"Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing","volume":"7","author":"Dellefave-Castillo","year":"2022","journal-title":"JAMA Cardiol."},{"key":"10.1016\/j.xhgg.2024.100286_bib22","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1002\/pd.6147","article-title":"Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations","volume":"42","author":"Shi","year":"2022","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.xhgg.2024.100286_bib26","article-title":"Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery","volume":"12","author":"Sun","year":"2022","journal-title":"Sci. Rep."},{"key":"10.1016\/j.xhgg.2024.100286_bib13","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s40291-021-00530-w","article-title":"Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years","volume":"25","author":"Janin","year":"2021","journal-title":"Mol. Diagn. Ther."}],"container-title":["Human Genetics and Genomics Advances"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666247724000253?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666247724000253?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:56:40Z","timestamp":1747187800000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2666247724000253"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["S2666247724000253"],"URL":"https:\/\/doi.org\/10.1016\/j.xhgg.2024.100286","relation":{},"ISSN":["2666-2477"],"issn-type":[{"value":"2666-2477","type":"print"}],"subject":[],"published":{"date-parts":[[2024,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease","name":"articletitle","label":"Article Title"},{"value":"Human Genetics and Genomics Advances","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.xhgg.2024.100286","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors.","name":"copyright","label":"Copyright"}],"article-number":"100286"}}