{"id":"https://openalex.org/W4389323481","doi":"https://doi.org/10.1186/s13287-023-03592-1","title":"Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease","display_name":"Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease","publication_year":2023,"publication_date":"2023-12-05","ids":{"openalex":"https://openalex.org/W4389323481","doi":"https://doi.org/10.1186/s13287-023-03592-1","pmid":"https://pubmed.ncbi.nlm.nih.gov/38049901","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10696868"},"language":"en","primary_location":{"id":"doi:10.1186/s13287-023-03592-1","doi":"https://doi.org/10.1186/s13287-023-03592-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13287-023-03592-1","pdf_url":"https://stemcellres.biomedcentral.com/counter/pdf/10.1186/s13287-023-03592-1","source":{"id":"https://openalex.org/S2061155","display_name":"Stem Cell Research & Therapy","issn_l":"1757-6512","issn":["1757-6512"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","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":"Stem Cell Research &amp; Therapy","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://stemcellres.biomedcentral.com/counter/pdf/10.1186/s13287-023-03592-1","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5051172094","display_name":"Vanessa S. Fear","orcid":"https://orcid.org/0000-0001-8363-6685","observed_orcids":["https://orcid.org/0000-0001-8363-6685"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I2800419323","display_name":"Princess Margaret Hospital for Children","ror":"https://ror.org/04ec98z42","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800419323","https://openalex.org/I2800882159","https://openalex.org/I4387155440"]},{"id":"https://openalex.org/I4387155440","display_name":"Perth Children's Hospital","ror":"https://ror.org/015zx6n37","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4387155440"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Vanessa S. Fear","raw_affiliation_strings":["Centre for Child Health Research, University of Western Australia, Crawley, Australia. vanessa.fear@telethonkids.org.au","Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, 15 Hospital Avenue, Nedlands, WA, 6009, Australia. vanessa.fear@telethonkids.org.au","Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia. vanessa.fear@telethonkids.org.au","Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia"],"raw_orcid":"https://orcid.org/0000-0001-8363-6685","affiliations":[{"raw_affiliation_string":"Centre for Child Health Research, University of Western Australia, Crawley, Australia. vanessa.fear@telethonkids.org.au","institution_ids":["https://openalex.org/I177877127"]},{"raw_affiliation_string":"Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, 15 Hospital Avenue, Nedlands, WA, 6009, Australia. vanessa.fear@telethonkids.org.au","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]},{"raw_affiliation_string":"Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia. vanessa.fear@telethonkids.org.au","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]},{"raw_affiliation_string":"Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110323410","display_name":"Catherine A. Forbes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I2800419323","display_name":"Princess Margaret Hospital for Children","ror":"https://ror.org/04ec98z42","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800419323","https://openalex.org/I2800882159","https://openalex.org/I4387155440"]},{"id":"https://openalex.org/I4387155440","display_name":"Perth Children's Hospital","ror":"https://ror.org/015zx6n37","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4387155440"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Catherine A. Forbes","raw_affiliation_strings":["Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061703216","display_name":"Nicole C. Shaw","orcid":"https://orcid.org/0000-0003-0810-1503","observed_orcids":["https://orcid.org/0000-0003-0810-1503"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I2800419323","display_name":"Princess Margaret Hospital for Children","ror":"https://ror.org/04ec98z42","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800419323","https://openalex.org/I2800882159","https://openalex.org/I4387155440"]},{"id":"https://openalex.org/I4387155440","display_name":"Perth Children's Hospital","ror":"https://ror.org/015zx6n37","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4387155440"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Nicole C. Shaw","raw_affiliation_strings":["Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091956240","display_name":"Kathryn O. Farley","orcid":"https://orcid.org/0000-0002-8600-3821","observed_orcids":["https://orcid.org/0000-0002-8600-3821"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I2800419323","display_name":"Princess Margaret Hospital for Children","ror":"https://ror.org/04ec98z42","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800419323","https://openalex.org/I2800882159","https://openalex.org/I4387155440"]},{"id":"https://openalex.org/I4387155440","display_name":"Perth Children's Hospital","ror":"https://ror.org/015zx6n37","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4387155440"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Kathryn O. Farley","raw_affiliation_strings":["Computational Biology, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Biology, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]},{"raw_affiliation_string":"Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027154660","display_name":"Jessica L. Mantegna","orcid":"https://orcid.org/0000-0002-4647-619X","observed_orcids":["https://orcid.org/0000-0002-4647-619X"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I2800419323","display_name":"Princess Margaret Hospital for Children","ror":"https://ror.org/04ec98z42","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800419323","https://openalex.org/I2800882159","https://openalex.org/I4387155440"]},{"id":"https://openalex.org/I4387155440","display_name":"Perth Children's Hospital","ror":"https://ror.org/015zx6n37","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4387155440"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Jessica L. Mantegna","raw_affiliation_strings":["Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093417947","display_name":"Jasmin P. Htun","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I2800419323","display_name":"Princess Margaret Hospital for Children","ror":"https://ror.org/04ec98z42","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800419323","https://openalex.org/I2800882159","https://openalex.org/I4387155440"]},{"id":"https://openalex.org/I4387155440","display_name":"Perth Children's Hospital","ror":"https://ror.org/015zx6n37","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4387155440"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Jasmin P. Htun","raw_affiliation_strings":["Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032885271","display_name":"Genevieve Syn","orcid":"https://orcid.org/0000-0001-8078-9731","observed_orcids":["https://orcid.org/0000-0001-8078-9731"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I2800419323","display_name":"Princess Margaret Hospital for Children","ror":"https://ror.org/04ec98z42","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800419323","https://openalex.org/I2800882159","https://openalex.org/I4387155440"]},{"id":"https://openalex.org/I4387155440","display_name":"Perth Children's Hospital","ror":"https://ror.org/015zx6n37","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4387155440"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Genevieve Syn","raw_affiliation_strings":["Computational Biology, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Biology, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048935081","display_name":"Helena M. Viola","orcid":"https://orcid.org/0000-0003-4838-0527","observed_orcids":["https://orcid.org/0000-0003-4838-0527"]},"institutions":[{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Helena Viola","raw_affiliation_strings":["University of Western Australia, Crawley, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Western Australia, Crawley, Australia","institution_ids":["https://openalex.org/I177877127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032331281","display_name":"Henrietta Csern\u00e9 Szappanos","orcid":"https://orcid.org/0000-0003-0063-257X","observed_orcids":["https://orcid.org/0000-0003-0063-257X"]},"institutions":[{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Henrietta Cserne Szappanos","raw_affiliation_strings":["University of Western Australia, Crawley, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Western Australia, Crawley, Australia","institution_ids":["https://openalex.org/I177877127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023899010","display_name":"Livia C. Hool","orcid":"https://orcid.org/0000-0001-7758-5252","observed_orcids":["https://orcid.org/0000-0001-7758-5252"]},"institutions":[{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I19514445","display_name":"Victor Chang Cardiac Research Institute","ror":"https://ror.org/03trvqr13","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I19514445"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Livia Hool","raw_affiliation_strings":["University of Western Australia, Crawley, Australia","Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Western Australia, Crawley, Australia","institution_ids":["https://openalex.org/I177877127"]},{"raw_affiliation_string":"Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia","institution_ids":["https://openalex.org/I19514445"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Michelle Ward","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michelle Ward","raw_affiliation_strings":["Undiagnosed Diseases Program, Genetic Services of WA, Subiaco, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Undiagnosed Diseases Program, Genetic Services of WA, Subiaco, Australia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089939981","display_name":"Gareth S Baynam","orcid":"https://orcid.org/0000-0003-4920-9553","observed_orcids":["https://orcid.org/0000-0003-4920-9553"]},"institutions":[{"id":"https://openalex.org/I2801351171","display_name":"King Edward Memorial Hospital","ror":"https://ror.org/00ns3e792","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801351171"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Gareth Baynam","raw_affiliation_strings":["Undiagnosed Diseases Program, Genetic Services of WA, Subiaco, Australia","Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, WA, 6008, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Undiagnosed Diseases Program, Genetic Services of WA, Subiaco, Australia","institution_ids":[]},{"raw_affiliation_string":"Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, WA, 6008, Australia","institution_ids":["https://openalex.org/I2801351171"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075290044","display_name":"Timo Lassmann","orcid":"https://orcid.org/0000-0002-0138-2691","observed_orcids":["https://orcid.org/0000-0002-0138-2691"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I2800419323","display_name":"Princess Margaret Hospital for Children","ror":"https://ror.org/04ec98z42","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800419323","https://openalex.org/I2800882159","https://openalex.org/I4387155440"]},{"id":"https://openalex.org/I4387155440","display_name":"Perth Children's Hospital","ror":"https://ror.org/015zx6n37","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4387155440"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Timo Lassmann","raw_affiliation_strings":["Centre for Child Health Research, University of Western Australia, Crawley, Australia","Computational Biology, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Child Health Research, University of Western Australia, Crawley, Australia","institution_ids":["https://openalex.org/I177877127"]},{"raw_affiliation_string":"Computational Biology, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]},{"raw_affiliation_string":"Translational Genetics, Precision Health, Telethon Kids Institute, Perth Children's Hospital, Nedlands, WA, 6009, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I2800419323","https://openalex.org/I4387155440"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5051172094"],"corresponding_institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127","https://openalex.org/I2800419323","https://openalex.org/I4387155440"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":2.8203,"has_fulltext":true,"cited_by_count":15,"citation_normalized_percentile":{"value":0.92058334,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":96,"max":98},"biblio":{"volume":"14","issue":"1","first_page":"345","last_page":"345"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.4880000054836273,"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":0.4880000054836273,"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/T11677","display_name":"Congenital heart defects research","score":0.13830000162124634,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.13680000603199005,"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/congenital-heart-disease","display_name":"congenital heart disease","score":0.9710000157356262},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.9629999995231628},{"id":"https://openalex.org/keywords/gata4","display_name":"GATA4","score":0.9079999923706055},{"id":"https://openalex.org/keywords/crispr-gene-editing","display_name":"CRISPR gene editing","score":0.7639999985694885},{"id":"https://openalex.org/keywords/induced-pluripotent-stem-cells","display_name":"induced pluripotent stem cells","score":0.9549999833106995},{"id":"https://openalex.org/keywords/calcium-signaling","display_name":"calcium signaling","score":0.6489999890327454},{"id":"https://openalex.org/keywords/adrenergic-signaling","display_name":"adrenergic signaling","score":0.9940000176429749},{"id":"https://openalex.org/keywords/action-potential","display_name":"action potential","score":0.7429999709129333},{"id":"https://openalex.org/keywords/troponin-t","display_name":"troponin T","score":0.6430000066757202},{"id":"https://openalex.org/keywords/transcriptomics","display_name":"transcriptomics","score":0.4659999907016754},{"id":"https://openalex.org/keywords/clonal-selection","display_name":"clonal selection","score":0.6639999747276306}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6760639548301697},{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.6185027956962585},{"id":"https://openalex.org/C144501496","wikidata":"https://www.wikidata.org/wiki/Q5533489","display_name":"Genome editing","level":4,"score":0.5427402257919312},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.5214228630065918},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.49889278411865234},{"id":"https://openalex.org/C116186050","wikidata":"https://www.wikidata.org/wiki/Q4039110","display_name":"GATA4","level":4,"score":0.49025896191596985},{"id":"https://openalex.org/C98108389","wikidata":"https://www.wikidata.org/wiki/Q412563","display_name":"CRISPR","level":3,"score":0.47296303510665894},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.43250784277915955},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.42634817957878113},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4201831817626953},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3941105604171753},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.37211471796035767},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3707801401615143},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.19911646842956543},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.16365370154380798},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.1555671989917755},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.1524687111377716}],"mesh":[{"descriptor_ui":"D000072669","descriptor_name":"Gene Editing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006330","descriptor_name":"Heart Defects, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006330","descriptor_name":"Heart Defects, Congenital","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D032383","descriptor_name":"Myocytes, Cardiac","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1186/s13287-023-03592-1","doi":"https://doi.org/10.1186/s13287-023-03592-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13287-023-03592-1","pdf_url":"https://stemcellres.biomedcentral.com/counter/pdf/10.1186/s13287-023-03592-1","source":{"id":"https://openalex.org/S2061155","display_name":"Stem Cell Research & Therapy","issn_l":"1757-6512","issn":["1757-6512"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","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":"Stem Cell Research &amp; Therapy","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:10696868","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10696868","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10696868/pdf/13287_2023_Article_3592.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":"Stem Cell Res Ther","raw_type":"Text"},{"id":"pmid:38049901","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38049901","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":"Stem cell research & therapy","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:49a28e30727a4fc5a4c6a4dea486bcd8","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/49a28e30727a4fc5a4c6a4dea486bcd8","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Stem Cell Research & Therapy, Vol 14, Iss 1, Pp 1-14 (2023)","raw_type":"article"},{"id":"pmh:oai:pure.atira.dk:openaire/cb0ba45b-a6a2-4a63-b1ae-bf5db76a7b98","doi":null,"is_oa":true,"landing_page_url":"https://www.scopus.com/pages/publications/85178471320","pdf_url":null,"source":{"id":"https://openalex.org/S4306402492","display_name":"UWA Profiles and Research Repository (UWA)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I177877127","host_organization_name":"The University of Western Australia","host_organization_lineage":["https://openalex.org/I177877127"],"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":"Fear, V S, Forbes, C A, Shaw, N C, Farley, K O, Mantegna, J L, Htun, J P, Syn, G, Viola, H, Cserne Szappanos, H, Hool, L, Ward, M, Baynam, G & Lassmann, T 2023, 'Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease', Stem Cell Research and Therapy, vol. 14, no. 1, 345. https://doi.org/10.1186/s13287-023-03592-1","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1186/s13287-023-03592-1","doi":"https://doi.org/10.1186/s13287-023-03592-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13287-023-03592-1","pdf_url":"https://stemcellres.biomedcentral.com/counter/pdf/10.1186/s13287-023-03592-1","source":{"id":"https://openalex.org/S2061155","display_name":"Stem Cell Research & Therapy","issn_l":"1757-6512","issn":["1757-6512"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","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":"Stem Cell Research &amp; Therapy","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8560000061988831}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320315345","display_name":"McCusker Charitable Foundation","ror":"https://ror.org/046ymy073"},{"id":"https://openalex.org/F4320323612","display_name":"Department of Health, Government of Western Australia","ror":"https://ror.org/01epcny94"},{"id":"https://openalex.org/F4320326768","display_name":"Government of Western Australia","ror":"https://ror.org/00wqdbc63"},{"id":"https://openalex.org/F4320330802","display_name":"Stan Perron Charitable Foundation","ror":"https://ror.org/03edev459"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F6278160948","display_name":"Feilman Foundation","ror":"https://ror.org/04d10x650"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4389323481.pdf","grobid_xml":"https://content.openalex.org/works/W4389323481.grobid-xml"},"referenced_works_count":43,"referenced_works":["https://openalex.org/W2003081461","https://openalex.org/W2010288184","https://openalex.org/W2038531896","https://openalex.org/W2049783720","https://openalex.org/W2051978340","https://openalex.org/W2054225000","https://openalex.org/W2072166780","https://openalex.org/W2073674965","https://openalex.org/W2107688352","https://openalex.org/W2112220625","https://openalex.org/W2138094453","https://openalex.org/W2140099276","https://openalex.org/W2140180317","https://openalex.org/W2149507559","https://openalex.org/W2169456326","https://openalex.org/W2185982739","https://openalex.org/W2197124664","https://openalex.org/W2292613782","https://openalex.org/W2323326409","https://openalex.org/W2429031812","https://openalex.org/W2482291549","https://openalex.org/W2560905785","https://openalex.org/W2588336478","https://openalex.org/W2588564283","https://openalex.org/W2611263380","https://openalex.org/W2630164044","https://openalex.org/W2768840488","https://openalex.org/W2803178352","https://openalex.org/W2915459742","https://openalex.org/W2950250779","https://openalex.org/W2952109315","https://openalex.org/W2980316483","https://openalex.org/W2983166786","https://openalex.org/W2994846084","https://openalex.org/W3005785247","https://openalex.org/W3049592181","https://openalex.org/W3175752499","https://openalex.org/W3179623148","https://openalex.org/W3214624261","https://openalex.org/W4210849219","https://openalex.org/W4213079605","https://openalex.org/W4213217891","https://openalex.org/W4310773007"],"related_works":["https://openalex.org/W7118133256","https://openalex.org/W6920902702","https://openalex.org/W6958639963","https://openalex.org/W4414937116","https://openalex.org/W3125379599","https://openalex.org/W3196949095","https://openalex.org/W2807903444","https://openalex.org/W7154903086","https://openalex.org/W2810895096","https://openalex.org/W4387621200"],"abstract_inverted_index":{"BACKGROUND:":[0],"Genomic":[1],"sequencing":[2],"in":[3,30,69,86,148,155,165,180,223,228],"congenital":[4],"heart":[5],"disease":[6,39,53,111,207],"(CHD)":[7],"patients":[8],"often":[9],"discovers":[10],"novel":[11],"genetic":[12,61,167,210,221,238],"variants,":[13],"which":[14],"are":[15],"classified":[16],"as":[17],"variants":[18,222],"of":[19,25,60,130,185,200],"uncertain":[20],"significance":[21],"(VUS).":[22],"Functional":[23,159],"analysis":[24,129],"each":[26],"VUS":[27,37,68],"is":[28,38],"required":[29],"specialised":[31],"laboratories,":[32],"to":[33,44,219],"determine":[34],"whether":[35],"the":[36,58,137,156,190,198],"causative":[40],"or":[41,192,225],"not,":[42],"leading":[43],"lengthy":[45],"diagnostic":[46],"delays.":[47],"We":[48,75],"investigated":[49],"stem":[50,89],"cell":[51],"cardiac":[52,174,206,229],"modelling":[54,112,208],"and":[55,102,113,118,126,151,205],"transcriptomics":[56,145],"for":[57,209,236],"purpose":[59],"variant":[62,101,117,157,168,211,239],"classification":[63],"using":[64,109],"a":[65,70,186,232],"GATA4":[66,166,224],"(p.Arg283Cys)":[67],"patient":[71,173,237],"with":[72,82,97,136,172],"CHD.":[73],"METHODS:":[74],"performed":[76],"high":[77],"efficiency":[78],"CRISPR":[79,202],"gene":[80,191,193,203],"editing":[81,204],"homology":[83],"directed":[84],"repair":[85],"induced":[87],"pluripotent":[88],"cells":[90,106],"(iPSCs),":[91],"followed":[92],"by":[93],"rapid":[94],"clonal":[95],"selection":[96],"amplicon":[98],"sequencing.":[99],"Genetic":[100,116],"healthy":[103,119],"matched":[104],"control":[105],"were":[107,170],"compared":[108],"cardiomyocyte":[110,131,152],"transcriptomics.":[114],"RESULTS:":[115],"cardiomyocytes":[120,169],"similarly":[121],"expressed":[122],"Troponin":[123],"T":[124],"(cTNNT),":[125],"GATA4.":[127],"Transcriptomics":[128],"differentiation":[132],"identified":[133],"changes":[134,147],"consistent":[135,171],"patient's":[138],"clinical":[139],"human":[140],"phenotype":[141],"ontology":[142],"terms.":[143],"Further,":[144],"revealed":[146],"calcium":[149],"signalling,":[150],"adrenergic":[153],"signalling":[154],"cells.":[158],"testing":[160],"demonstrated,":[161],"altered":[162],"action":[163],"potentials":[164],"abnormalities.":[175],"CONCLUSIONS:":[176],"This":[177],"work":[178],"provides":[179],"vivo":[181],"functional":[182],"studies":[183],"supportive":[184],"damaging":[187],"effect":[188],"on":[189],"product.":[194],"Furthermore,":[195],"we":[196],"demonstrate":[197],"utility":[199],"iPSCs,":[201],"interpretation.":[212,240],"The":[213],"method":[214],"can":[215],"readily":[216],"be":[217],"applied":[218],"other":[220,226],"genes":[227],"disease,":[230],"providing":[231],"centralised":[233],"assessment":[234],"pathway":[235]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":4}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2023-12-05T00:00:00"}
