{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T01:58:43Z","timestamp":1793411923654,"version":"4.5.0"},"reference-count":149,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T00:00:00Z","timestamp":1621987200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P01HD093363"],"award-info":[{"award-number":["P01HD093363"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007172","name":"Cincinnati Children's Hospital Medical Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007172","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Developmental Biology"],"published-print":{"date-parts":[[2021,9]]},"DOI":"10.1016\/j.ydbio.2021.05.015","type":"journal-article","created":{"date-parts":[[2021,5,21]],"date-time":"2021-05-21T12:29:29Z","timestamp":1621600169000},"page":"85-97","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":42,"special_numbering":"C","title":["Developmental basis of trachea-esophageal birth defects"],"prefix":"10.1016","volume":"477","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6952-2569","authenticated-orcid":false,"given":"Nicole A.","family":"Edwards","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vered","family":"Shacham-Silverberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leelah","family":"Weitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul S.","family":"Kingma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1299-5979","authenticated-orcid":false,"given":"Yufeng","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James M.","family":"Wells","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5685","authenticated-orcid":false,"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3217-3590","authenticated-orcid":false,"given":"Aaron M.","family":"Zorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ydbio.2021.05.015_bib1","doi-asserted-by":"crossref","first-page":"3143","DOI":"10.1101\/gad.11.23.3143","article-title":"Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture","volume":"11","author":"Andr\u00e4","year":"1997","journal-title":"Genes Dev."},{"key":"10.1016\/j.ydbio.2021.05.015_bib2","doi-asserted-by":"crossref","first-page":"2919","DOI":"10.1002\/ajmg.a.33718","article-title":"Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association","volume":"152A","author":"Arrington","year":"2010","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib3","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1038\/35001072","article-title":"The organizer factors Chordin and Noggin are required for mouse forebrain development","volume":"403","author":"Bachiller","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.ydbio.2021.05.015_bib4","doi-asserted-by":"crossref","first-page":"3567","DOI":"10.1242\/dev.00581","article-title":"The role of chordin\/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome","volume":"130","author":"Bachiller","year":"2003","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib5","article-title":"Use of hPSC-derived 3D organoids and mouse genetics to define the roles of YAP in the development of the esophagus","volume":"146","author":"Bailey","year":"2019","journal-title":"Development (Cambridge)"},{"key":"10.1016\/j.ydbio.2021.05.015_bib6","doi-asserted-by":"crossref","first-page":"e0219280","DOI":"10.1371\/journal.pone.0219280","article-title":"Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse","volume":"14","author":"Beauchamp","year":"2019","journal-title":"PloS One"},{"key":"10.1016\/j.ydbio.2021.05.015_bib7","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1097\/MPG.0b013e3182a373dc","article-title":"Chromosome aberrations and gene mutations in patients with esophageal atresia","volume":"57","author":"Bednarczyk","year":"2013","journal-title":"J.\u00a0Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.ydbio.2021.05.015_bib8","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1034\/j.1399-0004.2002.610210.x","article-title":"RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms","volume":"61","author":"Bonaf\u00e9","year":"2002","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib9","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1093\/hmg\/11.9.1129","article-title":"Pallister-Hall syndrome phenotype in mice mutant for Gli3","volume":"11","author":"Bose","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib10","doi-asserted-by":"crossref","first-page":"2981","DOI":"10.1242\/dev.120469","article-title":"Epithelial inactivation of Yy1 abrogates lung branching morphogenesis","volume":"142","author":"Boucherat","year":"2015","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib11","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1038\/ejhg.2013.295","article-title":"Structural and numerical changes of chromosome X in patients with esophageal atresia","volume":"22","author":"Brosens","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib12","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1159\/000345577","article-title":"VACTERL Association Etiology: the Impact of de novo and Rare Copy Number Variations","volume":"4","author":"Brosens","year":"2013","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib13","doi-asserted-by":"crossref","first-page":"e0242167","DOI":"10.1371\/journal.pone.0242167","article-title":"Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas","volume":"15","author":"Brosens","year":"2020","journal-title":"PloS One"},{"key":"10.1016\/j.ydbio.2021.05.015_bib14","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1038\/ejhg.2016.86","article-title":"Copy number variations in 375 patients with oesophageal atresia and\/or tracheoesophageal fistula","volume":"24","author":"Brosens","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib15","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.ejmg.2014.05.009","article-title":"Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies","volume":"57","author":"Brosens","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib16","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.gde.2005.04.010","article-title":"Genetic players in esophageal atresia and tracheoesophageal fistula","volume":"15","author":"Brunner","year":"2005","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.ydbio.2021.05.015_bib17","doi-asserted-by":"crossref","first-page":"D801","DOI":"10.1093\/nar\/gky1056","article-title":"Mouse genome database (MGD) 2019","volume":"47","author":"Bult","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ydbio.2021.05.015_bib18","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/j.ejmg.2014.06.007","article-title":"Genetics of gastrointestinal atresias","volume":"57","author":"Celli","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib19","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1242\/dev.02210","article-title":"The Vg1-related protein Gdf3 acts in a Nodal signaling pathway in the pre-gastrulation mouse embryo","volume":"133","author":"Chen","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib20","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1097\/00005537-200308000-00010","article-title":"Complete laryngotracheoesophageal cleft: complicated management issues","volume":"113","author":"Chitkara","year":"2003","journal-title":"Laryngoscope"},{"key":"10.1016\/j.ydbio.2021.05.015_bib21","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1007\/s002470050511","article-title":"Heterogeneity in Klippel-Feil syndrome: a new classification","volume":"28","author":"Clarke","year":"1998","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib22","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1177\/000348949410300306","article-title":"Klippel-Feil syndrome associated with malformed larynx. Case report","volume":"103","author":"Clarke","year":"1994","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib23","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ejhg.2010.225","article-title":"Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia","volume":"19","author":"Cognet","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib24","doi-asserted-by":"crossref","first-page":"e1001720","DOI":"10.1371\/journal.pbio.1001720","article-title":"Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton","volume":"11","author":"Cui","year":"2013","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib25","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1002\/bdra.20437","article-title":"Non-VACTERL-type anomalies are frequent in patients with esophageal atresia\/tracheo-esophageal fistula and full or partial VACTERL association","volume":"82","author":"de Jong","year":"2008","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib26","doi-asserted-by":"crossref","first-page":"13403","DOI":"10.1073\/pnas.0603730103","article-title":"Tcof1\/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities","volume":"103","author":"Dixon","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.ydbio.2021.05.015_bib27","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1242\/dev.053694","article-title":"Signaling through BMP receptors promotes respiratory identity in the foregut via repression of Sox2","volume":"138","author":"Domyan","year":"2011","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib28","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1083\/jcb.134.2.559","article-title":"Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival","volume":"134","author":"Dowling","year":"1996","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib29","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.ydbio.2011.04.020","article-title":"Ephrin-B reverse signaling controls septation events at the embryonic midline through separate tyrosine phosphorylation-independent signaling avenues","volume":"355","author":"Dravis","year":"2011","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib30","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.molmed.2017.02.007","article-title":"Disease modeling in stem cell-derived 3D organoid systems","volume":"23","author":"Dutta","year":"2017","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.ydbio.2021.05.015_bib31","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.19732","article-title":"A\u00a0bioengineered niche promotes in vivo engraftment and maturation of pluripotent stem cell derived human lung organoids","volume":"5","author":"Dye","year":"2016","journal-title":"Elife"},{"key":"10.1016\/j.ydbio.2021.05.015_bib32","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.05098","article-title":"In vitro generation of human pluripotent stem cell derived lung organoids","volume":"4","author":"Dye","year":"2015","journal-title":"Elife"},{"key":"10.1016\/j.ydbio.2021.05.015_bib33","series-title":"Modeling Endoderm Development and Disease in Xenopus","author":"Edwards","year":"2021"},{"key":"10.1016\/j.ydbio.2021.05.015_bib34","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1093\/hmg\/ddi123","article-title":"Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome","volume":"14","author":"Fath","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib35","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ydbio.2014.02.008","article-title":"BMP antagonism by Noggin is required in presumptive notochord cells for mammalian foregut morphogenesis","volume":"391","author":"Fausett","year":"2014","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib36","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ejmg.2006.12.004","article-title":"Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula","volume":"50","author":"Felix","year":"2007","journal-title":"Eur. J. Med. Genet."},{"issue":"52","key":"10.1016\/j.ydbio.2021.05.015_bib146","doi-asserted-by":"crossref","first-page":"19836","DOI":"10.1073\/pnas.0609628104","article-title":"Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis","volume":"103","author":"Feng","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ydbio.2021.05.015_bib37","doi-asserted-by":"crossref","first-page":"3805","DOI":"10.1242\/dev.01204","article-title":"Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain","volume":"131","author":"Ferri","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib38","doi-asserted-by":"crossref","first-page":"3725","DOI":"10.1093\/hmg\/ddr241","article-title":"A\u00a0novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus","volume":"20","author":"Friedland-Little","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib39","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/j.ajhg.2017.05.006","article-title":"YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction","volume":"100","author":"Gabriele","year":"2017","journal-title":"Am. J. Hum. Genet."},{"issue":"Suppl. 1","key":"10.1016\/j.ydbio.2021.05.015_bib40","first-page":"S6","article-title":"Genetic factors in isolated and syndromic esophageal atresia","volume":"52","author":"Genevieve","year":"2011","journal-title":"J.\u00a0Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.ydbio.2021.05.015_bib41","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1038\/ng0796-370","article-title":"Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice","volume":"13","author":"Georges-Labouesse","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib42","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1136\/jmedgenet-2012-101173","article-title":"EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia","volume":"49","author":"Gordon","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib43","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.devcel.2009.06.005","article-title":"Wnt2\/2b and beta-catenin signaling are necessary and sufficient to specify lung progenitors in the foregut","volume":"17","author":"Goss","year":"2009","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ydbio.2021.05.015_bib44","doi-asserted-by":"crossref","first-page":"4158","DOI":"10.1038\/s41467-020-17968-x","article-title":"Single cell transcriptomics identifies a signaling network coordinating endoderm and mesoderm diversification during foregut organogenesis","volume":"11","author":"Han","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ydbio.2021.05.015_bib45","doi-asserted-by":"crossref","first-page":"16287","DOI":"10.1073\/pnas.0902274106","article-title":"beta-Catenin promotes respiratory progenitor identity in mouse foregut","volume":"106","author":"Harris-Johnson","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"16","key":"10.1016\/j.ydbio.2021.05.015_bib145","doi-asserted-by":"crossref","first-page":"2457","DOI":"10.1093\/hmg\/ddl168","article-title":"Cardiac malformations and midline skeletal defects in mice lacking filamin A","volume":"15","author":"Hart","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib46","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.stem.2020.09.017","article-title":"Derivation of airway basal stem cells from human pluripotent stem cells","volume":"28","author":"Hawkins","year":"2021","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.ydbio.2021.05.015_bib47","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<266::AID-AJMG3>3.0.CO;2-N","article-title":"Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome","volume":"65","author":"Hirt-Armon","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib48","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1016\/S0960-9822(02)01075-8","article-title":"RIP4 is an ankyrin repeat-containing kinase essential for keratinocyte differentiation","volume":"12","author":"Holland","year":"2002","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib49","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/humu.22924","article-title":"Mandibulofacial dysostosis with microcephaly: mutation and database update","volume":"37","author":"Huang","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ydbio.2021.05.015_bib50","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1007\/s00335-006-0107-6","article-title":"Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues","volume":"18","author":"Hurd","year":"2007","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.ydbio.2021.05.015_bib51","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/s41439-020-00119-5","article-title":"Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2","volume":"7","author":"Ikeda","year":"2020","journal-title":"Hum. Genome Var."},{"key":"10.1016\/j.ydbio.2021.05.015_bib52","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.ydbio.2009.11.005","article-title":"Foregut separation and tracheo-oesophageal malformations: the role of tracheal outgrowth, dorso-ventral patterning and programmed cell death","volume":"337","author":"Ioannides","year":"2010","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib53","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/85845","article-title":"DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1","volume":"27","author":"Jerome","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib54","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1016\/j.ajpath.2012.05.006","article-title":"The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline","volume":"181","author":"Jiang","year":"2012","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib55","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1093\/hmg\/dds494","article-title":"Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development","volume":"22","author":"Jiang","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib56","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/cga.12241","article-title":"Interkinetic nuclear migration in the tracheal and esophageal epithelia of the mouse embryo: possible implications for tracheo-esophageal anomalies","volume":"58","author":"Kaneda","year":"2018","journal-title":"Congenit Anom (Kyoto)"},{"key":"10.1016\/j.ydbio.2021.05.015_bib57","doi-asserted-by":"crossref","first-page":"D861","DOI":"10.1093\/nar\/gkx936","article-title":"Xenbase: a genomic, epigenomic and transcriptomic model organism database","volume":"46","author":"Karimi","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ydbio.2021.05.015_bib58","first-page":"3200","article-title":"Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio-otic syndrome and esophageal atresia: coincidence or a digenic mode of inheritance?","volume":"17","author":"Kause","year":"2018","journal-title":"Mol. Med. Rep."},{"key":"10.1016\/j.ydbio.2021.05.015_bib59","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.ceb.2019.07.009","article-title":"Recent advances in deriving human endodermal tissues from pluripotent stem cells","volume":"61","author":"Kechele","year":"2019","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib60","doi-asserted-by":"crossref","first-page":"2221","DOI":"10.1093\/hmg\/ddg233","article-title":"Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects","volume":"12","author":"Kiefer","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib61","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.devcel.2019.11.002","article-title":"Isl1 regulation of Nkx2.1 in the early foregut epithelium is required for trachea-esophageal separation and lung lobation","volume":"51","author":"Kim","year":"2019","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ydbio.2021.05.015_bib62","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1038\/s41580-020-0259-3","article-title":"Human organoids: model systems for human biology and medicine","volume":"21","author":"Kim","year":"2020","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib63","doi-asserted-by":"crossref","first-page":"4159","DOI":"10.1038\/s41467-020-17969-w","article-title":"Bidirectional Wnt signaling between endoderm and mesoderm confers tracheal identity in mouse and human cells","volume":"11","author":"Kishimoto","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ydbio.2021.05.015_bib64","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1086\/510919","article-title":"Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome","volume":"80","author":"Klopocki","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib65","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/s41586-019-1598-0","article-title":"Modelling human hepato-biliary-pancreatic organogenesis from the foregut\u2013midgut boundary","volume":"574","author":"Koike","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.ydbio.2021.05.015_bib66","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1034\/j.1399-0004.2003.00047.x","article-title":"Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile","volume":"63","author":"Kroes","year":"2003","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib67","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.55526","article-title":"Delineating the early transcriptional specification of the mammalian trachea and esophagus","volume":"9","author":"Kuwahara","year":"2020","journal-title":"Elife"},{"key":"10.1016\/j.ydbio.2021.05.015_bib68","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/1824-7288-39-45","article-title":"Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?","volume":"39","author":"La Placa","year":"2013","journal-title":"Ital. J. Pediatr."},{"key":"10.1016\/j.ydbio.2021.05.015_bib69","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1007\/s00383-008-2222-9","article-title":"Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review","volume":"24","author":"Lee","year":"2008","journal-title":"Pediatr. Surg. Int."},{"key":"10.1016\/j.ydbio.2021.05.015_bib70","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1126\/science.1098674","article-title":"Advanced cardiac morphogenesis does not require heart tube fusion","volume":"305","author":"Li","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.ydbio.2021.05.015_bib71","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1002\/dvdy.21075","article-title":"Aberrant Bmp signaling and notochord delamination in the pathogenesis of esophageal atresia","volume":"236","author":"Li","year":"2007","journal-title":"Dev. Dynam."},{"key":"10.1016\/j.ydbio.2021.05.015_bib72","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1038\/1717","article-title":"Sonic hedgehog is essential to foregut development","volume":"20","author":"Litingtung","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib73","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1086\/512735","article-title":"Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux","volume":"80","author":"Lu","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"19","key":"10.1016\/j.ydbio.2021.05.015_bib148","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1101\/gad.11.10.1226","article-title":"Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1\/Brca2, Brca1\/p53, and Brca2\/p53 nullizygous embryos","volume":"11","author":"Ludwig","year":"1997","journal-title":"Genes Dev."},{"key":"10.1016\/j.ydbio.2021.05.015_bib74","doi-asserted-by":"crossref","first-page":"2397","DOI":"10.1242\/dev.128.12.2397","article-title":"Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations","volume":"128","author":"Mahlapuu","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib75","doi-asserted-by":"crossref","first-page":"1888","DOI":"10.1002\/dvdy.22314","article-title":"The missense mutation W290R in Fgfr2 causes developmental defects from aberrant IIIb and IIIc signaling","volume":"239","author":"Mai","year":"2010","journal-title":"Dev. Dynam."},{"key":"10.1016\/j.ydbio.2021.05.015_bib76","doi-asserted-by":"crossref","first-page":"7003","DOI":"10.1523\/JNEUROSCI.0018-15.2015","article-title":"Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly","volume":"35","author":"Mao","year":"2015","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ydbio.2021.05.015_bib77","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1136\/jmg.37.9.701","article-title":"Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia","volume":"37","author":"Marsh","year":"2000","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib78","doi-asserted-by":"crossref","first-page":"3662","DOI":"10.1093\/hmg\/ddaa258","article-title":"Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice","volume":"29","author":"Martin","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib79","first-page":"1","article-title":"Enteroendocrine cells couple nutrient sensing to nutrient absorption by regulating ion transport","author":"McCauley","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ydbio.2021.05.015_bib80","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1242\/dev.140731","article-title":"Pluripotent stem cell-derived organoids: using principles of developmental biology to grow human tissues in a dish","volume":"144","author":"McCauley","year":"2017","journal-title":"Development (Cambridge)"},{"key":"10.1016\/j.ydbio.2021.05.015_bib81","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1016\/j.stem.2017.03.001","article-title":"Efficient derivation of functional human airway epithelium from pluripotent stem cells via temporal regulation of Wnt signaling","volume":"20","author":"McCauley","year":"2017","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.ydbio.2021.05.015_bib82","doi-asserted-by":"crossref","first-page":"2749","DOI":"10.1242\/dev.120.10.2749","article-title":"Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants","volume":"120","author":"Mendelsohn","year":"1994","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib83","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.ajhg.2011.03.015","article-title":"Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis","volume":"88","author":"Mill","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib84","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1038\/s41596-018-0104-8","article-title":"Generation of lung organoids from human pluripotent stem cells in vitro","volume":"14","author":"Miller","year":"2019","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ydbio.2021.05.015_bib85","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1006\/dbio.1999.9234","article-title":"Defects in tracheoesophageal and lung morphogenesis in Nkx2.1(-\/-) mouse embryos","volume":"209","author":"Minoo","year":"1999","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib86","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.pedneo.2016.03.005","article-title":"Longitudinal follow-up of chronic pulmonary manifestations in esophageal atresia: a clinical algorithm and review of the literature","volume":"58","author":"Mirra","year":"2017","journal-title":"Pediatr. Neonatol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib87","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1101\/gad.6.5.691","article-title":"A\u00a0targeted mutation reveals a role for N-myc in branching morphogenesis in the embryonic mouse lung","volume":"6","author":"Moens","year":"1992","journal-title":"Genes Dev."},{"key":"10.1016\/j.ydbio.2021.05.015_bib88","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1007\/s00383-011-3022-1","article-title":"Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients","volume":"28","author":"Murphy","year":"2012","journal-title":"Pediatr. Surg. Int."},{"key":"10.1016\/j.ydbio.2021.05.015_bib89","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1172\/JCI40728","article-title":"Loss of Rab25 promotes the development of intestinal neoplasia in mice and is associated with human colorectal adenocarcinomas","volume":"120","author":"Nam","year":"2010","journal-title":"J.\u00a0Clin. Invest."},{"issue":"2","key":"10.1016\/j.ydbio.2021.05.015_bib90","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.046573","article-title":"Disruption of a hedgehog-foxf1-rspo2 signaling axis leads to tracheomalacia and a loss of sox9+ tracheal chondrocytes","volume":"14","author":"Nasr","year":"2020","journal-title":"Dis. Model Mech."},{"key":"10.1016\/j.ydbio.2021.05.015_bib91","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1016\/j.devcel.2019.11.003","article-title":"Endosome-mediated epithelial remodeling downstream of Hedgehog-Gli is required for tracheoesophageal separation","volume":"51","author":"Nasr","year":"2019","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ydbio.2021.05.015_bib92","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1002\/bdra.23067","article-title":"Prevalence of esophageal atresia among 18 international birth defects surveillance programs","volume":"94","author":"Nassar","year":"2012","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib93","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmedgenet-2012-100819","article-title":"Clinical application of exome sequencing in undiagnosed genetic conditions","volume":"49","author":"Need","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib94","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ydbio.2018.01.012","article-title":"Getting direction(s): the Eph\/ephrin signaling system in cell positioning","volume":"447","author":"Niethamer","year":"2019","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib95","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.ajhg.2019.02.001","article-title":"A\u00a0syndromic neurodevelopmental disorder caused by mutations in SMARCD1, a core SWI\/SNF subunit needed for context-dependent neuronal gene regulation in flies","volume":"104","author":"Nixon","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib96","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1016\/j.jpedsurg.2019.02.034","article-title":"Congenital high airway obstruction syndrome (CHAOS): natural history, prenatal management strategies, and outcomes at a single comprehensive fetal center","volume":"54","author":"Nolan","year":"2019","journal-title":"J.\u00a0Pediatr. Surg."},{"key":"10.1016\/j.ydbio.2021.05.015_bib97","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/1096-8628(20000904)94:1<64::AID-AJMG13>3.0.CO;2-D","article-title":"Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome","volume":"94","author":"Ondrey","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib98","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1038\/nature08000","article-title":"Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition","volume":"459","author":"Pecho-Vrieseling","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.ydbio.2021.05.015_bib99","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/s13052-020-00861-0","article-title":"Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperechogenicity and polyhydramnios: a case report","volume":"46","author":"Perri","year":"2020","journal-title":"Ital. J. Pediatr."},{"key":"10.1016\/j.ydbio.2021.05.015_bib100","first-page":"4396","article-title":"Noggin regulates foregut progenitor cell programming, and misexpression leads to esophageal atresia","volume":"130","author":"Pinzon-Guzman","year":"2020","journal-title":"J.\u00a0Clin. Invest."},{"issue":"2","key":"10.1016\/j.ydbio.2021.05.015_bib101","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1002\/ppul.25219","article-title":"Vascular and pulmonary comorbidities in children with congenital EA\/TEF","volume":"56","author":"Poore","year":"2020","journal-title":"Pediatr. Pulmonol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib102","doi-asserted-by":"crossref","first-page":"3237","DOI":"10.1093\/hmg\/11.25.3237","article-title":"Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome","volume":"11","author":"Prakash","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib103","doi-asserted-by":"crossref","first-page":"2293","DOI":"10.1242\/dev.129.9.2293","article-title":"A\u00a0complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice","volume":"129","author":"Purandare","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib104","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/ng1197-285","article-title":"Opitz G\/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22","volume":"17","author":"Quaderi","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib105","first-page":"419","article-title":"The initial establishment and epithelial morphogenesis of the esophagus: a new model of tracheal-esophageal separation and transition of simple columnar into stratified squamous epithelium in the developing esophagus","volume":"4","author":"Que","year":"2015","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib106","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1242\/dev.034629","article-title":"Multiple roles for Sox2 in the developing and adult mouse trachea","volume":"136","author":"Que","year":"2009","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib107","doi-asserted-by":"crossref","first-page":"2521","DOI":"10.1242\/dev.003855","article-title":"Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm","volume":"134","author":"Que","year":"2007","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib108","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1089\/scd.2020.0075","article-title":"Genetic mouse models and induced pluripotent stem cells for studying tracheal-esophageal separation and esophageal development","volume":"29","author":"Raad","year":"2020","journal-title":"Stem Cell. Dev."},{"key":"10.1016\/j.ydbio.2021.05.015_bib109","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.celrep.2016.05.060","article-title":"A\u00a0retinoic acid-Hedgehog cascade coordinates mesoderm-inducing signals and endoderm competence during lung specification","volume":"16","author":"Rankin","year":"2016","journal-title":"Cell Rep."},{"key":"10.1016\/j.ydbio.2021.05.015_bib110","doi-asserted-by":"crossref","first-page":"e26270","DOI":"10.1371\/journal.pone.0026270","article-title":"RMRP is a non-coding RNA essential for early murine development","volume":"6","author":"Rosenbluh","year":"2011","journal-title":"PloS One"},{"key":"10.1016\/j.ydbio.2021.05.015_bib111","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1038\/ki.2013.417","article-title":"Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association","volume":"85","author":"Saisawat","year":"2014","journal-title":"Kidney Int."},{"key":"10.1016\/j.ydbio.2021.05.015_bib112","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1002\/bdra.22879","article-title":"Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder","volume":"94","author":"Schulz","year":"2012","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib113","series-title":"Esophageal Atresia \/Tracheoesophageal Fistula Overview","author":"Scott","year":"2018"},{"key":"10.1016\/j.ydbio.2021.05.015_bib114","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/S0012-1606(02)00022-2","article-title":"Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes","volume":"254","author":"Settle","year":"2003","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib115","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/bs.mcb.2020.04.009","article-title":"Generation of esophageal organoids and organotypic raft cultures from human pluripotent stem cells","volume":"159","author":"Shacham-Silverberg","year":"2020","journal-title":"Methods Cell Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib116","doi-asserted-by":"crossref","first-page":"D704","DOI":"10.1093\/nar\/gkz997","article-title":"The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species","volume":"48","author":"Shefchek","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ydbio.2021.05.015_bib117","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.ijporl.2017.07.028","article-title":"Clinical presentation and airway management of tracheal atresia: a systematic review","volume":"101","author":"Smith","year":"2017","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib118","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1002\/bdra.20821","article-title":"De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene","volume":"91","author":"Solomon","year":"2011","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"issue":"7332","key":"10.1016\/j.ydbio.2021.05.015_bib149","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1038\/nature09691","article-title":"Directed differentiation of human pluripotent stem cells into intestinal tissue in vitro","volume":"470","author":"Spence","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ydbio.2021.05.015_bib119","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.ajhg.2009.05.005","article-title":"Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations","volume":"84","author":"Stankiewicz","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib120","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1101\/gad.6.12a.2235","article-title":"Loss of N-myc function results in embryonic lethality and failure of the epithelial component of the embryo to develop","volume":"6","author":"Stanton","year":"1992","journal-title":"Genes Dev."},{"key":"10.1016\/j.ydbio.2021.05.015_bib121","doi-asserted-by":"crossref","first-page":"E10615","DOI":"10.1073\/pnas.1811624115","article-title":"Evolutionarily conserved Tbx5-Wnt2\/2b pathway orchestrates cardiopulmonary development","volume":"115","author":"Steimle","year":"2018","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.ydbio.2021.05.015_bib122","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1002\/ajmg.a.38303","article-title":"Associated anomalies in cases with esophageal atresia","volume":"173","author":"Stoll","year":"2017","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib123","doi-asserted-by":"crossref","DOI":"10.1242\/dev.179820","article-title":"E3 ubiquitin ligase MDM2 acts through p53 to control respiratory progenitor cell number and lung size","volume":"146","author":"Sui","year":"2019","journal-title":"Development"},{"key":"10.1016\/j.ydbio.2021.05.015_bib124","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1111\/j.1399-0004.1995.tb04057.x","article-title":"Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum","volume":"48","author":"Sutphen","year":"1995","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib125","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1101\/gad.479408","article-title":"VACTERL\/caudal regression\/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5","volume":"22","author":"Szumska","year":"2008","journal-title":"Genes Dev."},{"issue":"33","key":"10.1016\/j.ydbio.2021.05.015_bib147","doi-asserted-by":"crossref","first-page":"11746","DOI":"10.1073\/pnas.0505404102","article-title":"Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene","volume":"102","author":"Timmer","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ydbio.2021.05.015_bib126","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.stem.2018.08.008","article-title":"Esophageal organoids from human pluripotent stem cells delineate Sox2 functions during esophageal specification","volume":"23","author":"Trisno","year":"2018","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.ydbio.2021.05.015_bib127","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/s41572-019-0077-0","article-title":"Oesophageal atresia","volume":"5","author":"van Lennep","year":"2019","journal-title":"Nat. Rev. Dis. Prim."},{"key":"10.1016\/j.ydbio.2021.05.015_bib128","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng1407","article-title":"Mutations in a new member of the chromodomain gene family cause CHARGE syndrome","volume":"36","author":"Vissers","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib129","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/1096-8628(20010115)98:2<137::AID-AJMG1022>3.0.CO;2-5","article-title":"Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications","volume":"98","author":"Walsh","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib130","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/s41431-020-0680-2","article-title":"Novel candidate genes in esophageal atresia\/tracheoesophageal fistula identified by exome sequencing","volume":"29","author":"Wang","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib131","series-title":"Differentiation of Human Airway-Organoids from Induced Pluripotent Stem Cells (iPSCs), 1 Ed","author":"Wang","year":"2020"},{"key":"10.1016\/j.ydbio.2021.05.015_bib132","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1136\/jmg.2008.060913","article-title":"Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?","volume":"47","author":"Wessels","year":"2010","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib133","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/ng0295-165","article-title":"Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome","volume":"9","author":"Wilkie","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib134","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1093\/hmg\/ddl064","article-title":"Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome","volume":"15","author":"Williamson","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ydbio.2021.05.015_bib135","doi-asserted-by":"crossref","first-page":"17735","DOI":"10.1038\/srep17735","article-title":"SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination","volume":"6","author":"Wilson","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ydbio.2021.05.015_bib136","doi-asserted-by":"crossref","first-page":"e22493","DOI":"10.1371\/journal.pone.0022493","article-title":"Barx1-mediated inhibition of Wnt signaling in the mouse thoracic foregut controls tracheo-esophageal septation and epithelial differentiation","volume":"6","author":"Woo","year":"2011","journal-title":"PloS One"},{"key":"10.1016\/j.ydbio.2021.05.015_bib137","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/nm.4233","article-title":"Engineered human pluripotent-stem-cell-derived intestinal tissues with a functional enteric nervous system","volume":"23","author":"Workman","year":"2017","journal-title":"Nat. Med."},{"key":"10.1016\/j.ydbio.2021.05.015_bib138","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1161\/01.RES.83.10.986","article-title":"Sox4-deficiency syndrome in mice is an animal model for common trunk","volume":"83","author":"Ya","year":"1998","journal-title":"Circ. Res."},{"key":"10.1016\/j.ydbio.2021.05.015_bib139","doi-asserted-by":"crossref","first-page":"1755","DOI":"10.1016\/j.bbadis.2014.05.001","article-title":"De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models","volume":"1842","author":"Yang","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ydbio.2021.05.015_bib140","doi-asserted-by":"crossref","first-page":"e0234246","DOI":"10.1371\/journal.pone.0234246","article-title":"Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia","volume":"15","author":"Zhang","year":"2020","journal-title":"PloS One"},{"key":"10.1016\/j.ydbio.2021.05.015_bib141","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.devcel.2019.05.017","article-title":"A\u00a0comprehensive structure-function study of Neurogenin3 disease-causing alleles during human pancreas and intestinal organoid development","volume":"50","author":"Zhang","year":"2019","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ydbio.2021.05.015_bib142","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.semcdb.2016.12.008","article-title":"Development and stem cells of the esophagus","volume":"66","author":"Zhang","year":"2017","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.ydbio.2021.05.015_bib143","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1016\/j.stem.2018.08.009","article-title":"3D modeling of esophageal development using human PSC-derived basal progenitors reveals a critical role for Notch signaling","volume":"23","author":"Zhang","year":"2018","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.ydbio.2021.05.015_bib144","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/humu.20606","article-title":"Characterization of the interactions of human ZIC3 mutants with GLI3","volume":"29","author":"Zhu","year":"2008","journal-title":"Hum. Mutat."}],"container-title":["Developmental Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0012160621001287?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0012160621001287?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T04:46:26Z","timestamp":1757911586000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0012160621001287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":149,"alternative-id":["S0012160621001287"],"URL":"https:\/\/doi.org\/10.1016\/j.ydbio.2021.05.015","relation":{},"ISSN":["0012-1606"],"issn-type":[{"value":"0012-1606","type":"print"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Developmental basis of trachea-esophageal birth defects","name":"articletitle","label":"Article Title"},{"value":"Developmental Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ydbio.2021.05.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}