{"id":"https://openalex.org/W1972675102","doi":"https://doi.org/10.1016/1058-9813(96)00156-7","title":"Molecular genetic defects and cardiac morphogenesis","display_name":"Molecular genetic defects and cardiac morphogenesis","publication_year":1996,"publication_date":"1996-04-01","ids":{"openalex":"https://openalex.org/W1972675102","doi":"https://doi.org/10.1016/1058-9813(96)00156-7","mag":"1972675102"},"language":"en","primary_location":{"id":"doi:10.1016/1058-9813(96)00156-7","doi":"https://doi.org/10.1016/1058-9813(96)00156-7","is_oa":false,"landing_page_url":"https://doi.org/10.1016/1058-9813(96)00156-7","pdf_url":null,"source":{"id":"https://openalex.org/S187747600","display_name":"Progress in Pediatric Cardiology","issn_l":"1058-9813","issn":["1058-9813","1558-1519"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Progress in Pediatric Cardiology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"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/A5027871977","display_name":"Elizabeth Goldmuntz","orcid":"https://orcid.org/0000-0003-2936-4396","observed_orcids":["https://orcid.org/0000-0003-2936-4396"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Elizabeth Goldmuntz","raw_affiliation_strings":["The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Philadelphia, PA 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023255205","display_name":"Beverly S. Emanuel","orcid":"https://orcid.org/0000-0002-9207-6955","observed_orcids":["https://orcid.org/0000-0002-9207-6955"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Beverly S. Emanuel","raw_affiliation_strings":["The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Philadelphia, PA 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5027871977"],"corresponding_institution_ids":["https://openalex.org/I1335321130"],"apc_list":{"value":2670,"currency":"USD","value_usd":2670},"apc_paid":null,"fwci":0.1273,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.40603072,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"5","issue":"2","first_page":"113","last_page":"121"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11677","display_name":"Congenital heart defects research","score":0.38600000739097595,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11677","display_name":"Congenital heart defects research","score":0.38600000739097595,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.31299999356269836,"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":0.21140000224113464,"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/congenital-heart-disease","display_name":"congenital heart disease","score":0.9390000104904175},{"id":"https://openalex.org/keywords/heart-morphogenesis","display_name":"cardiac morphogenesis","score":0.9599999785423279},{"id":"https://openalex.org/keywords/familial-hypertrophic-cardiomyopathy","display_name":"familial hypertrophic cardiomyopathy","score":0.9520000219345093},{"id":"https://openalex.org/keywords/long-qt-syndrome","display_name":"long QT syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/williams-syndrome","display_name":"Williams syndrome","score":0.9810000061988831},{"id":"https://openalex.org/keywords/22q11-2-deletion-syndrome","display_name":"22q11.2 deletion syndrome","score":0.9900000095367432},{"id":"https://openalex.org/keywords/genetic-etiology","display_name":"genetic etiology","score":0.9340000152587891},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.6169999837875366}],"concepts":[{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.8364663124084473},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.744989812374115},{"id":"https://openalex.org/C2776149932","wikidata":"https://www.wikidata.org/wiki/Q1543446","display_name":"Noonan syndrome","level":2,"score":0.6260248422622681},{"id":"https://openalex.org/C2779688345","wikidata":"https://www.wikidata.org/wiki/Q525642","display_name":"DiGeorge syndrome","level":2,"score":0.5944664478302002},{"id":"https://openalex.org/C204315192","wikidata":"https://www.wikidata.org/wiki/Q210506","display_name":"Molecular genetics","level":3,"score":0.48470187187194824},{"id":"https://openalex.org/C2780185194","wikidata":"https://www.wikidata.org/wiki/Q1364270","display_name":"Hypertrophic cardiomyopathy","level":2,"score":0.4796641170978546},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.4280676245689392},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.41687247157096863},{"id":"https://openalex.org/C2779962030","wikidata":"https://www.wikidata.org/wiki/Q2151267","display_name":"Restrictive cardiomyopathy","level":4,"score":0.41169074177742004},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.33959147334098816},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.32006561756134033},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.27802667021751404},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.24618294835090637},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.23584958910942078},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.15034541487693787},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1406351923942566},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.12669694423675537},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/1058-9813(96)00156-7","doi":"https://doi.org/10.1016/1058-9813(96)00156-7","is_oa":false,"landing_page_url":"https://doi.org/10.1016/1058-9813(96)00156-7","pdf_url":null,"source":{"id":"https://openalex.org/S187747600","display_name":"Progress in Pediatric Cardiology","issn_l":"1058-9813","issn":["1058-9813","1558-1519"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Progress in Pediatric Cardiology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":72,"referenced_works":["https://openalex.org/W18052369","https://openalex.org/W50140507","https://openalex.org/W278714566","https://openalex.org/W1233117074","https://openalex.org/W1557889858","https://openalex.org/W1558981666","https://openalex.org/W1965032430","https://openalex.org/W1982251587","https://openalex.org/W1987191674","https://openalex.org/W1987460221","https://openalex.org/W1988194497","https://openalex.org/W1990888036","https://openalex.org/W1992752077","https://openalex.org/W1995697852","https://openalex.org/W1998315351","https://openalex.org/W1999000941","https://openalex.org/W1999251970","https://openalex.org/W1999606522","https://openalex.org/W1999652280","https://openalex.org/W2002991365","https://openalex.org/W2003010737","https://openalex.org/W2003868896","https://openalex.org/W2007886643","https://openalex.org/W2010302358","https://openalex.org/W2011407953","https://openalex.org/W2011872927","https://openalex.org/W2013293473","https://openalex.org/W2021600728","https://openalex.org/W2022841128","https://openalex.org/W2023574380","https://openalex.org/W2024321813","https://openalex.org/W2027036934","https://openalex.org/W2036194714","https://openalex.org/W2037444231","https://openalex.org/W2042562951","https://openalex.org/W2044735954","https://openalex.org/W2048661600","https://openalex.org/W2051487353","https://openalex.org/W2053146170","https://openalex.org/W2061690865","https://openalex.org/W2064321549","https://openalex.org/W2073302508","https://openalex.org/W2074705578","https://openalex.org/W2076522099","https://openalex.org/W2076646574","https://openalex.org/W2076995895","https://openalex.org/W2079349387","https://openalex.org/W2093214695","https://openalex.org/W2094609100","https://openalex.org/W2109270556","https://openalex.org/W2111410367","https://openalex.org/W2114381641","https://openalex.org/W2123152110","https://openalex.org/W2132788683","https://openalex.org/W2141025381","https://openalex.org/W2146649331","https://openalex.org/W2155369569","https://openalex.org/W2160527718","https://openalex.org/W2161332441","https://openalex.org/W2161676629","https://openalex.org/W2164856023","https://openalex.org/W2166568527","https://openalex.org/W2166929965","https://openalex.org/W2320970146","https://openalex.org/W2338642290","https://openalex.org/W4206076102","https://openalex.org/W4242169888","https://openalex.org/W6602042425","https://openalex.org/W6628187006","https://openalex.org/W6633515275","https://openalex.org/W6659780542","https://openalex.org/W6661771446"],"related_works":["https://openalex.org/W2312775487","https://openalex.org/W2018636218","https://openalex.org/W2014498494","https://openalex.org/W2164363246","https://openalex.org/W2280926430","https://openalex.org/W2074131562","https://openalex.org/W3180117308","https://openalex.org/W2317185413","https://openalex.org/W2151099572","https://openalex.org/W7098657892"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2016-06-24T00:00:00"}
