{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T07:21:31Z","timestamp":1777706491742,"version":"3.51.4"},"reference-count":81,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,1,11]],"date-time":"2019-01-11T00:00:00Z","timestamp":1547164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100002020","name":"Children\u2019s Heart Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002020","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2018.00729","type":"journal-article","created":{"date-parts":[[2019,1,11]],"date-time":"2019-01-11T04:19:26Z","timestamp":1547180366000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations"],"prefix":"10.3389","volume":"9","author":[{"given":"Lisa J.","family":"Martin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Pilipenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. Woodrow","family":"Benson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2019,1,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1161\/CIRCGENETICS.111.961797","article-title":"Exome analysis of a family with pleiotropic congenital heart disease.","volume":"5","author":"Arrington","year":"2012","journal-title":"Circ. Cardiovasc. Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"3225","DOI":"10.1242\/jcs.054155","article-title":"Liprin-alpha1 promotes cell spreading on the extracellular matrix by affecting the distribution of activated integrins.","volume":"122","author":"Asperti","year":"2009","journal-title":"J. Cell Sci."},{"key":"B3","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1016\/j.yexcr.2010.01.017","article-title":"Liprin-alpha1 affects the distribution of low-affinity beta1 integrins and stabilizes their permanence at the cell surface.","volume":"316","author":"Asperti","year":"2010","journal-title":"Exp. Cell Res."},{"key":"B4","doi-asserted-by":"publisher","first-page":"3862","DOI":"10.1242\/jcs.155663","article-title":"Liprin-alpha1, ERC1 and LL5 define polarized and dynamic structures that are implicated in cell migration.","volume":"127","author":"Astro","year":"2014","journal-title":"J. Cell Sci."},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1038\/srep33653","article-title":"Liprin-alpha1 and ERC1 control cell edge dynamics by promoting focal adhesion turnover.","volume":"6","author":"Astro","year":"2016","journal-title":"Sci. Rep."},{"key":"B6","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1038\/ng0197-30","article-title":"Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.","volume":"15","author":"Basson","year":"1997","journal-title":"Nat. Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1161\/01.CIR.91.5.1326","article-title":"Genetic heterogeneity of heart-hand syndromes.","volume":"91","author":"Basson","year":"1995","journal-title":"Circulation"},{"key":"B8","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1016\/S0733-8651(02)00009-7","article-title":"The genetics of congenital heart disease: a point in the revolution.","volume":"20","author":"Benson","year":"2002","journal-title":"Cardiol. Clin."},{"key":"B9","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.jpeds.2016.02.052","article-title":"Genetics of hypoplastic left heart syndrome.","volume":"173","author":"Benson","year":"2016","journal-title":"J. Pediatr."},{"key":"B10","doi-asserted-by":"publisher","first-page":"2043","DOI":"10.1161\/01.CIR.97.20.2043","article-title":"Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects.","volume":"97","author":"Benson","year":"1998","journal-title":"Circulation"},{"key":"B11","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.ijcard.2016.12.024","article-title":"The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease.","volume":"230","author":"Blue","year":"2017","journal-title":"Int. J. Cardiol."},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1186\/s12860-016-0085-9","article-title":"Spatiotemporal patterns of sortilin and SorCS2 localization during organ development.","volume":"17","author":"Boggild","year":"2016","journal-title":"BMC Cell Biol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"2376","DOI":"10.1161\/01.CIR.103.19.2376","article-title":"Mortality associated with congenital heart defects in the United States: trends and racial disparities, 1979-1997.","volume":"103","author":"Boneva","year":"2001","journal-title":"Circulation"},{"key":"B14","doi-asserted-by":"publisher","first-page":"1492","DOI":"10.1001\/archpedi.1989.02150240114030","article-title":"Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome.","volume":"143","author":"Brenner","year":"1989","journal-title":"Am. J. Dis. Child"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1038\/npjgenmed.2016.31","article-title":"The importance of copy number variation in congenital heart disease.","volume":"1","author":"Costain","year":"2016","journal-title":"NPJ Genom. Med."},{"key":"B16","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1016\/j.jacc.2004.03.050","article-title":"Bicuspid aortic valve is heritable.","volume":"44","author":"Cripe","year":"2004","journal-title":"J. Am. Coll. Cardiol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/j.ajhg.2013.08.006","article-title":"Actionable, pathogenic incidental findings in 1,000 participants\u2019 exomes.","volume":"93","author":"Dorschner","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"B18","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1016\/j.ygeno.2007.09.005","article-title":"Altered myocardial gene expression reveals possible maladaptive processes in heterozygous and homozygous cardiac myosin-binding protein C knockout mice.","volume":"91","author":"Eijssen","year":"2008","journal-title":"Genomics"},{"key":"B19","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1086\/424696","article-title":"Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps.","volume":"75","author":"Evans","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"B20","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.yjmcc.2016.11.012","article-title":"The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study.","volume":"102","author":"Gago-Diaz","year":"2017","journal-title":"J. Mol. Cell Cardiol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1038\/nature03940","article-title":"Mutations in NOTCH1 cause aortic valve disease.","volume":"437","author":"Garg","year":"2005","journal-title":"Nature"},{"key":"B22","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation.","volume":"526","author":"Genomes Project Consortium","year":"2015","journal-title":"Nature"},{"key":"B23","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1016\/j.neuron.2014.04.022","article-title":"SorCS2 regulates dopaminergic wiring and is processed into an apoptotic two-chain receptor in peripheral glia.","volume":"82","author":"Glerup","year":"2014","journal-title":"Neuron"},{"key":"B24","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1126\/science.1262110","article-title":"Human genomics. the genotype-tissue expression (GTEx) pilot analysis: multitissue gene regulation in humans.","volume":"348","year":"2015","journal-title":"Science"},{"key":"B25","doi-asserted-by":"publisher","first-page":"2331","DOI":"10.1093\/hmg\/ddw071","article-title":"A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.","volume":"25","author":"Hanchard","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"B26","doi-asserted-by":"publisher","first-page":"1590","DOI":"10.1016\/j.jacc.2007.07.021","article-title":"Hypoplastic left heart syndrome is heritable.","volume":"50","author":"Hinton","year":"2007","journal-title":"J. Am. Coll. Cardiol."},{"key":"B27","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1016\/j.jacc.2008.12.023","article-title":"Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve.","volume":"53","author":"Hinton","year":"2009","journal-title":"J. Am. Coll. Cardiol."},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0191319","article-title":"The congenital heart disease genetic network study: cohort description.","volume":"13","author":"Hoang","year":"2018","journal-title":"PLoS One"},{"key":"B29","doi-asserted-by":"publisher","first-page":"1262","DOI":"10.1126\/science.aac9396","article-title":"De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.","volume":"350","author":"Homsy","year":"2015","journal-title":"Science"},{"key":"B30","doi-asserted-by":"publisher","first-page":"1195","DOI":"10.1161\/CIRCULATIONAHA.118.035070","article-title":"Reappraisal of reported genes for sudden arrhythmic death: an evidence-based evaluation of gene validity for brugada syndrome.","volume":"138","author":"Hosseini","year":"2018","journal-title":"Circulation"},{"key":"B31","doi-asserted-by":"publisher","first-page":"1809","DOI":"10.1016\/S0735-1097(97)00372-0","article-title":"A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve.","volume":"30","author":"Huntington","year":"1997","journal-title":"J. Am. Coll. Cardiol."},{"key":"B32","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1007\/s00246-018-1842-7","article-title":"Identification of de novo and rare inherited copy number variants in children with syndromic congenital heart defects.","volume":"39","author":"Hussein","year":"2018","journal-title":"Pediatr. Cardiol."},{"key":"B33","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1038\/ng.3970","article-title":"Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.","volume":"49","author":"Jin","year":"2017","journal-title":"Nat. Genet."},{"key":"B34","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1016\/j.molcel.2007.11.020","article-title":"Exchange of GATA factors mediates transitions in looped chromatin organization at a developmentally regulated gene locus.","volume":"29","author":"Jing","year":"2008","journal-title":"Mol. Cell"},{"key":"B35","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1038\/ng.327","article-title":"Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.","volume":"41","author":"Kathiresan","year":"2009","journal-title":"Nat. Genet."},{"key":"B36","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants.","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"B37","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1253\/circj.CJ-17-0250","article-title":"Familial aggregation and heritability of congenital heart defects.","volume":"82","author":"Kuo","year":"2017","journal-title":"Circ. J."},{"key":"B38","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1161\/CIRCGENETICS.115.001324","article-title":"Utilization of whole exome sequencing to identify causative mutations in familial congenital heart disease.","volume":"9","author":"LaHaye","year":"2016","journal-title":"Circ. Cardiovasc. Genet."},{"key":"B39","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans.","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-017-0482-5","article-title":"Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.","volume":"9","author":"Li","year":"2017","journal-title":"Genome Med."},{"key":"B41","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/j.mayocp.2016.10.019","article-title":"Whole-genome sequencing in healthy people.","volume":"92","author":"Lindor","year":"2017","journal-title":"Mayo Clin. Proc."},{"key":"B42","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1038\/ng.3870","article-title":"The complex genetics of hypoplastic left heart syndrome.","volume":"49","author":"Liu","year":"2017","journal-title":"Nat. Genet."},{"key":"B43","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1002\/ajmg.a.20366","article-title":"Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries.","author":"Loffredo","year":"2004","journal-title":"Am. J. Med. Genet. Part A"},{"key":"B44","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.cell.2006.06.035","article-title":"Interchromosomal interactions and olfactory receptor choice.","volume":"126","author":"Lomvardas","year":"2006","journal-title":"Cell"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-017-0104-8","article-title":"Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics.","volume":"11","author":"Mahmood","year":"2017","journal-title":"Hum. Genomics"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms13546","article-title":"PPFIA1 drives active alpha5beta1 integrin recycling and controls fibronectin fibrillogenesis and vascular morphogenesis.","volume":"7","author":"Mana","year":"2016","journal-title":"Nat. Commun."},{"key":"B47","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1161\/CIRCGENETICS.114.000526","article-title":"Whole exome sequencing for familial bicuspid aortic valve identifies putative variants.","volume":"7","author":"Martin","year":"2014","journal-title":"Circ. Cardiovasc. Genet."},{"key":"B48","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1007\/s00439-006-0316-9","article-title":"Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations.","volume":"121","author":"Martin","year":"2007","journal-title":"Hum. Genet."},{"key":"B49","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1136\/hrt.2011.222489","article-title":"Heredity of bicuspid aortic valve: is family screening indicated?","volume":"97","author":"McBride","year":"2011","journal-title":"Heart"},{"key":"B50","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1002\/ajmg.a.30602","article-title":"Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability.","volume":"134","author":"McBride","year":"2005","journal-title":"Am. J. Med. Genet. Part A"},{"key":"B51","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1002\/bdra.20764","article-title":"Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.","volume":"91","author":"McBride","year":"2011","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"B52","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"B53","doi-asserted-by":"publisher","first-page":"E5189","DOI":"10.1073\/pnas.1511585112","article-title":"Comparison of predicted and actual consequences of missense mutations.","volume":"112","author":"Miosge","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B54","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.j832","article-title":"Maternal and infant genetic variants, maternal periconceptional use of selective serotonin reuptake inhibitors, and risk of congenital heart defects in offspring: population based study.","volume":"356","author":"Nembhard","year":"2017","journal-title":"BMJ"},{"key":"B55","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1038\/ng.646","article-title":"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.","volume":"42","author":"Ng","year":"","journal-title":"Nat. Genet."},{"key":"B56","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1038\/ng.499","article-title":"Exome sequencing identifies the cause of a mendelian disorder.","volume":"42","author":"Ng","year":"","journal-title":"Nat. Genet."},{"key":"B57","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1098\/rstb.2007.2114","article-title":"Extracellular matrix, mechanotransduction and structural hierarchies in heart tissue engineering.","volume":"362","author":"Parker","year":"2007","journal-title":"Philos. Trans. R. Soc. Lond. B Biol. Sci."},{"key":"B58","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1002\/bdra.20735","article-title":"Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006.","volume":"88","author":"Parker","year":"2010","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"B59","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1161\/CIRCRESAHA.111.300297","article-title":"The congenital heart disease genetic network study: rationale, design, and early results.","volume":"112","author":"Gelb","year":"2013","journal-title":"Circ. Res."},{"key":"B60","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006335","article-title":"Family based whole exome sequencing reveals the multifaceted role of notch signaling in congenital heart disease.","volume":"12","author":"Preuss","year":"2016","journal-title":"PLoS Genet."},{"key":"B61","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005963","article-title":"De novo and rare variants at multiple loci support the oligogenic origins of atrioventricular septal heart defects.","volume":"12","author":"Priest","year":"2016","journal-title":"PLoS Genet."},{"key":"B62","doi-asserted-by":"publisher","first-page":"1442","DOI":"10.1007\/s00246-014-0951-1","article-title":"Common variations in BMP4 confer genetic susceptibility to sporadic congenital heart disease in a Han Chinese population.","volume":"35","author":"Qian","year":"2014","journal-title":"Pediatr. Cardiol."},{"key":"B63","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"B64","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.117.006906","article-title":"Advances in the understanding of the genetic determinants of congenital heart disease and their impact on clinical outcomes.","volume":"7","author":"Russell","year":"2018","journal-title":"J. Am. Heart Assoc."},{"key":"B65","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1126\/science.281.5373.108","article-title":"Congenital heart disease caused by mutations in the transcription factor NKX2-5.","volume":"281","author":"Schott","year":"1998","journal-title":"Science"},{"key":"B66","doi-asserted-by":"publisher","first-page":"2291","DOI":"10.1084\/jem.20111749","article-title":"ProNGF, a cytokine induced after myocardial infarction in humans, targets pericytes to promote microvascular damage and activation.","volume":"209","author":"Siao","year":"2012","journal-title":"J. Exp. Med."},{"key":"B67","doi-asserted-by":"publisher","first-page":"1060","DOI":"10.1038\/ng.3627","article-title":"Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.","volume":"48","author":"Sifrim","year":"2016","journal-title":"Nat. Genet."},{"key":"B68","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1086\/504158","article-title":"Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers.","volume":"78","author":"Silberstein","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"B69","doi-asserted-by":"publisher","first-page":"D726","DOI":"10.1093\/nar\/gkv1160","article-title":"ENCODE data at the ENCODE portal.","volume":"44","author":"Sloan","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"B70","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1038\/nature13138","article-title":"Obesity-associated variants within FTO form long-range functional connections with IRX3.","volume":"507","author":"Smemo","year":"2014","journal-title":"Nature"},{"key":"B71","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1038\/ni1115","article-title":"Long-range intrachromosomal interactions in the T helper type 2 cytokine locus.","volume":"5","author":"Spilianakis","year":"2004","journal-title":"Nat. Immunol."},{"key":"B72","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1038\/nature03574","article-title":"Interchromosomal associations between alternatively expressed loci.","volume":"435","author":"Spilianakis","year":"2005","journal-title":"Nature"},{"key":"B73","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010855","article-title":"Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.","volume":"5","author":"Stevens","year":"2010","journal-title":"PLoS One"},{"key":"B74","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.117.001978","article-title":"A screening approach to identify clinically actionable variants causing congenital heart disease in exome data.","volume":"11","author":"Szot","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"B75","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/j.ajhg.2014.07.006","article-title":"Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.","volume":"95","author":"Tabor","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"B76","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1016\/S1097-2765(02)00781-5","article-title":"Looping and interaction between hypersensitive sites in the active beta-globin locus.","volume":"10","author":"Tolhuis","year":"2002","journal-title":"Mol. Cell."},{"key":"B77","doi-asserted-by":"publisher","first-page":"2041","DOI":"10.1038\/sj.emboj.7601654","article-title":"Long-range chromosomal interactions regulate the timing of the transition between poised and active gene expression.","volume":"26","author":"Vernimmen","year":"2007","journal-title":"EMBO J."},{"key":"B78","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1002\/ajmg.a.30601","article-title":"Autosomal dominant inheritance of left ventricular outflow tract obstruction.","volume":"134","author":"Wessels","year":"2005","journal-title":"Am. J. Med. Genet. Part A"},{"key":"B79","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.10113.1","article-title":"Recent advances in congenital heart disease genomics.","volume":"6","author":"Wilsdon","year":"2017","journal-title":"F1000Res"},{"key":"B80","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1161\/CIRCGENETICS.111.961136","article-title":"Complex trait analysis of ventricular septal defects caused by Nkx2-5 mutation.","volume":"5","author":"Winston","year":"2012","journal-title":"Circ. Cardiovasc. Genet."},{"key":"B81","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1038\/nature12141","article-title":"De novo mutations in histone-modifying genes in congenital heart disease.","volume":"498","author":"Zaidi","year":"2013","journal-title":"Nature"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2018.00729\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,11]],"date-time":"2019-01-11T04:19:30Z","timestamp":1547180370000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2018.00729\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,11]]},"references-count":81,"alternative-id":["10.3389\/fgene.2018.00729"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2018.00729","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,11]]},"article-number":"729"}}