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However, despite considerable efforts to identify pathogenic genes in patients with CHDs, few gene variants have been proven as causal. The complexity of the genetic architecture underlying human CHDs likely contributes to this poor genetic discovery rate. However, several other factors are likely to contribute. For example, the level of patient phenotyping required for clinical care may be insufficient for research studies focused on mechanistic discovery. Although several hundred mouse gene knockouts have been described with CHDs, these are generally not phenotyped and described in the same way as CHDs in patients, and thus are not readily comparable. Moreover, most patients with CHDs carry variants of uncertain significance of crucial cardiac genes, further complicating comparisons between humans and mouse mutants. In spite of major advances in cardiac developmental biology over the past 25\u2005years, these advances have not been well communicated to geneticists and cardiologists. As a consequence, the latest data from developmental biology are not always used in the design and interpretation of studies aimed at discovering the genetic causes of CHDs. In this Special Article, while considering other in vitro and in vivo models, we create a coherent framework for accurately modelling and phenotyping human CHDs in mice, thereby enhancing the translation of genetic and genomic studies into the causes of CHDs in patients.<\/jats:p>","DOI":"10.1242\/dmm.050913","type":"journal-article","created":{"date-parts":[[2024,11,22]],"date-time":"2024-11-22T03:21:40Z","timestamp":1732245700000},"source":"Crossref","is-referenced-by-count":5,"title":["Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping"],"prefix":"10.1242","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2705-5998","authenticated-orcid":false,"given":"Deborah J.","family":"Henderson","sequence":"first","affiliation":[{"name":"MRC National Mouse Genetics Network, Congenital Anomalies Cluster 1 , Harwell, OX11 0RD, UK"},{"name":"Biosciences Institute, Newcastle University, Centre for Life 2 , Newcastle upon Tyne NE1 3BZ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1145-8474","authenticated-orcid":false,"given":"Ahlam","family":"Alqahtani","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, Centre for Life 2 , Newcastle upon Tyne NE1 3BZ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2833-8882","authenticated-orcid":false,"given":"Bill","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, Centre for Life 2 , Newcastle upon Tyne NE1 3BZ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5079-7546","authenticated-orcid":false,"given":"Andrew","family":"Cook","sequence":"additional","affiliation":[{"name":"University College London, Zayed Centre for Research 3 , London WC1N 1DZ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorraine","family":"Eley","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, Centre for Life 2 , Newcastle upon Tyne NE1 3BZ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4024-8599","authenticated-orcid":false,"given":"Lucile","family":"Houyel","sequence":"additional","affiliation":[{"name":"M3C-Necker, H\u00f4pital Universitaire Necker-Enfants Malades, APHP, Universit\u00e9 Paris Cit\u00e9 4 Congenital and Pediatric Cardiology Unit , , 149 Rue de S\u00e8vres, 75015 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3052-8351","authenticated-orcid":false,"given":"Marina","family":"Hughes","sequence":"additional","affiliation":[{"name":"Norfolk and Norwich University Hospital 5 Cardiology Department , , Norwich NR4 7UY ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9573-0812","authenticated-orcid":false,"given":"Bernard","family":"Keavney","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester 6 , Manchester M13 9PT ,","place":["UK"]},{"name":"NIHR Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre 7 , Manchester M13 9PT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6761-7265","authenticated-orcid":false,"given":"Jos\u00e9 Luis","family":"de la Pompa","sequence":"additional","affiliation":[{"name":"Intercellular Signaling in Cardiovascular Development and Disease Laboratory, Centro Nacional de Investigaciones Cardiovasculares (CNIC) 8 , Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid ,","place":["Spain"]},{"name":"Ciber de Enfermedades Cardiovasculares, Instituto de Salud Carlos III 9 , Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4461-283X","authenticated-orcid":false,"given":"John","family":"Sled","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre, Hospital for Sick Children 10 , Toronto M5G 1XS , . Department of Medical Biophysics , , Toronto M5G 1XS ,","place":["Canada Canada"]},{"name":"University of Toronto 10 , Toronto M5G 1XS , . Department of Medical Biophysics , , Toronto M5G 1XS ,","place":["Canada Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2699-0068","authenticated-orcid":false,"given":"Nadine","family":"Spielmann","sequence":"additional","affiliation":[{"name":"Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health 11 , D-85764 Neuherberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2789-8637","authenticated-orcid":false,"given":"Lydia","family":"Teboul","sequence":"additional","affiliation":[{"name":"Mary Lyon Centre, MRC Harwell 12 , Oxfordshire OX11 0RD ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0811-418X","authenticated-orcid":false,"given":"Stephane","family":"Zaffran","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9, INSERM, Marseille Medical Genetics, U1251 13 , 13005 Marseille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5218-134X","authenticated-orcid":false,"given":"Pleasantine","family":"Mill","sequence":"additional","affiliation":[{"name":"MRC National Mouse Genetics Network, Congenital Anomalies Cluster 1 , Harwell, OX11 0RD, UK"},{"name":"Institute for Genetics and Cancer, The University of Edinburgh 14 MRC Human Genetics Unit , , Edinburgh EH4 2XU ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2483-2165","authenticated-orcid":false,"given":"Karen J.","family":"Liu","sequence":"additional","affiliation":[{"name":"MRC National Mouse Genetics Network, Congenital Anomalies Cluster 1 , Harwell, OX11 0RD, UK"},{"name":"Centre for Craniofacial and Regenerative Biology, King's College London 15 , London SE1 9RT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2024,11,22]]},"reference":[{"key":"2024112208211597400_DMM050913C1","doi-asserted-by":"publisher","first-page":"2139","DOI":"10.1242\/dev.079970","article-title":"The bHLH transcription factor Tcf21 is required for lineage-specific EMT of cardiac fibroblast progenitors","volume":"139","author":"Acharya","year":"2012","journal-title":"Development"},{"key":"2024112208211597400_DMM050913C2","doi-asserted-by":"publisher","first-page":"1251902","DOI":"10.3389\/fgene.2023.1251902","article-title":"Capturing heart valve development with Gene Ontology","volume":"14","author":"Ahmed","year":"2023","journal-title":"Front. 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