{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T11:13:02Z","timestamp":1767179582136,"version":"build-2238731810"},"reference-count":40,"publisher":"Public Library of Science (PLoS)","issue":"1","license":[{"start":{"date-parts":[[2014,1,31]],"date-time":"2014-01-31T00:00:00Z","timestamp":1391126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0087472","type":"journal-article","created":{"date-parts":[[2014,1,31]],"date-time":"2014-01-31T17:53:12Z","timestamp":1391190792000},"page":"e87472","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":15,"title":["Ultra High-Resolution Gene Centric Genomic Structural Analysis of a Non-Syndromic Congenital Heart Defect, Tetralogy of Fallot"],"prefix":"10.1371","volume":"9","author":[{"given":"Douglas C.","family":"Bittel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-Gang","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nataliya","family":"Kibiryeva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Fiedler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James E.","family":"O\u2019Brien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shihui","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Yu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2014,1,31]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.1016\/S0140-6736(09)60657-7","article-title":"Tetralogy of Fallot","volume":"374","author":"C Apitz","year":"2009","journal-title":"Lancet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/S0140-6736(97)06486-6","article-title":"Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study","volume":"351","author":"J Burn","year":"1998","journal-title":"Lancet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.jacc.2003.11.067","article-title":"Outcomes of pregnancy in women with tetralogy of Fallot","volume":"44","author":"GR Veldtman","year":"2004","journal-title":"J Am Coll Cardiol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/0002-9149(90)90825-L","article-title":"Prevalence of significant congenital heart defects in children of parents with Fallot\u2019s tetralogy","volume":"65","author":"TM Zellers","year":"1990","journal-title":"Am J Cardiol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/1750-1172-4-2","article-title":"Tetralogy of Fallot","volume":"4","author":"F Bailliard","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ajhg.2008.05.012","article-title":"Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly","volume":"83","author":"E Roessler","year":"2008","journal-title":"Am J Hum Genet"},{"key":"ref7","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 Disease in the Young: endorsed by the American Academy of Pediatrics","volume":"115","author":"ME Pierpont","year":"2007","journal-title":"Circulation"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1399-0004.2010.01435.x","article-title":"Genetic factors in non-syndromic congenital heart malformations","volume":"78","author":"MW Wessels","year":"2010","journal-title":"Clin Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1161\/CIRCRESAHA.109.194464","article-title":"Signaling pathways controlling second heart field development","volume":"104","author":"F Rochais","year":"2009","journal-title":"Circ Res"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1755-8794-4-1","article-title":"Gene expression in cardiac tissues from infants with idiopathic conotruncal defects","volume":"4","author":"DC Bittel","year":"2011","journal-title":"BMC Med Genomics"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1093\/hmg\/dds552","article-title":"Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot","volume":"22","author":"HJ Cordell","year":"2013","journal-title":"Hum Mol Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/1471-2156-14-44","article-title":"Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci","volume":"14","author":"A Flaquer","year":"2013","journal-title":"BMC Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"51","DOI":"10.3892\/ijmm.2012.1188","article-title":"Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot","volume":"31","author":"RT Huang","year":"2013","journal-title":"Int J Mol Med"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1159\/000331272","article-title":"Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects","volume":"135","author":"J Breckpot","year":"2011","journal-title":"Cytogenet Genome Res"},{"key":"ref15","unstructured":"Breckpot J, Thienpont B, Peeters H, de Ravel T, Singer A, et al. (2011) Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. J Pediatr 156: 810\u2013817, 817 e811\u2013817 e814."},{"key":"ref16","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmg.2008.058776","article-title":"High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease","volume":"45","author":"F Erdogan","year":"2008","journal-title":"J Med Genet"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1111\/j.1747-0803.2011.00582.x","article-title":"Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies","volume":"6","author":"E Goldmuntz","year":"2012","journal-title":"Congenit Heart Dis"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/ng.415","article-title":"De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot","volume":"41","author":"SC Greenway","year":"2009","journal-title":"Nat Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"e1002903","DOI":"10.1371\/journal.pgen.1002903","article-title":"Rare copy number variants contribute to congenital left-sided heart disease","volume":"8","author":"MP Hitz","year":"2012","journal-title":"PLoS Genet"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"e1002843","DOI":"10.1371\/journal.pgen.1002843","article-title":"Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways","volume":"8","author":"CK Silversides","year":"2012","journal-title":"PLoS Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.ajhg.2012.08.003","article-title":"Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease","volume":"91","author":"R Soemedi","year":"2012","journal-title":"Am J Hum Genet"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1152\/physiolgenomics.00013.2012","article-title":"Human gene copy number spectra analysis in congenital heart malformations","volume":"44","author":"A Tomita-Mitchell","year":"2012","journal-title":"Physiol Genomics"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1097\/GIM.0b013e3181f8baad","article-title":"Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities","volume":"12","author":"M Manning","year":"2010","journal-title":"Genet Med"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"DT Miller","year":"2010","journal-title":"Am J Hum Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1161\/CIRCGENETICS.111.961474","article-title":"Noncoding RNA expression in myocardium from infants with tetralogy of Fallot","volume":"5","author":"JE O\u2019Brien Jr","year":"2012","journal-title":"Circ Cardiovasc Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1309\/AJCP1BOUTWF6ERYS","article-title":"Validation of the Agilent 244 K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis","volume":"132","author":"S Yu","year":"2009","journal-title":"Am J Clin Pathol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1089\/gtmb.2009.0056","article-title":"Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization","volume":"13","author":"S Yu","year":"2009","journal-title":"Genet Test Mol Biomarkers"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1002\/ajmg.a.31606","article-title":"Whole genome microarray analysis of gene expression in Prader-Willi syndrome","volume":"143","author":"DC Bittel","year":"2007","journal-title":"Am J Med Genet A"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1002\/humu.21231","article-title":"Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis","volume":"31","author":"RC Bauer","year":"2010","journal-title":"Hum Mutat"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1101\/gr.4565806","article-title":"An initial map of insertion and deletion (INDEL) variation in the human genome","volume":"16","author":"RE Mills","year":"2006","journal-title":"Genome Res"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.ajhg.2013.06.012","article-title":"Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing","volume":"93","author":"YH Jiang","year":"2013","journal-title":"Am J Hum Genet"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1101\/gad.291004","article-title":"The Notch target genes Hey1 and Hey2 are required for embryonic vascular development","volume":"18","author":"A Fischer","year":"2004","journal-title":"Genes Dev"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1007\/s00246-008-9368-z","article-title":"Notch signaling in cardiac development and disease","volume":"30","author":"JL de la Pompa","year":"2009","journal-title":"Pediatr Cardiol"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/1098-1004(200102)17:2<151::AID-HUMU8>3.0.CO;2-T","article-title":"Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients","volume":"17","author":"RP Colliton","year":"2001","journal-title":"Hum Mutat"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1086\/301875","article-title":"Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families","volume":"62","author":"ID Krantz","year":"1998","journal-title":"Am J Hum Genet"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/ng0797-243","article-title":"Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1","volume":"16","author":"L Li","year":"1997","journal-title":"Nat Genet"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.ajhg.2007.12.010","article-title":"The fine-scale and complex architecture of human copy-number variation","volume":"82","author":"GH Perry","year":"2008","journal-title":"Am J Hum Genet"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/nature08516","article-title":"Origins and functional impact of copy number variation in the human genome","volume":"464","author":"DF Conrad","year":"2010","journal-title":"Nature"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/nature09298","article-title":"Integrating common and rare genetic variation in diverse human populations","volume":"467","author":"C International HapMap","year":"2010","journal-title":"Nature"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1016\/j.amjcard.2011.07.022","article-title":"Maternal and paternal environmental risk factors, metabolizing GSTM1 and GSTT1 polymorphisms, and congenital heart disease","volume":"108","author":"M Cresci","year":"2011","journal-title":"Am J Cardiol"}],"updated-by":[{"DOI":"10.1371\/journal.pone.0099148","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2014,5,27]],"date-time":"2014-05-27T00:00:00Z","timestamp":1401148800000}}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0087472","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T01:58:14Z","timestamp":1565143094000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0087472"}},"subtitle":[],"editor":[{"given":"Barbara","family":"Bardoni","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2014,1,31]]},"references-count":40,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2014,1,31]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0087472","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,31]]}}}