{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,7]],"date-time":"2026-06-07T18:24:39Z","timestamp":1780856679847,"version":"3.54.1"},"reference-count":58,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T00:00:00Z","timestamp":1663804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000688","name":"Department of Health, Social Services and Public Safety, UK Government","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000688","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["HD098458"],"award-info":[{"award-number":["HD098458"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Esophageal atresia\/tracheoesophageal fistula (EA\/TEF) is a life\u2010threatening birth defect that often occurs with other major birth defects (EA\/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA\/TEF+ cases. Here, we analyzed clinical exome sequencing data and data from the DECIPHER database to determine the efficacy of exome sequencing in cases of EA\/TEF+ and to identify phenotypic expansions involving EA\/TEF. Among 67 individuals with EA\/TEF+ referred for clinical exome sequencing, a definitive or probable diagnosis was made in 11 cases for an efficacy rate of 16% (11\/67). This efficacy rate is significantly lower than that reported for other major birth defects, suggesting that polygenic, multifactorial, epigenetic, and\/or environmental factors may play a particularly important role in EA\/TEF pathogenesis. Our cohort included individuals with pathogenic or likely pathogenic variants that affect <jats:italic>TCF4<\/jats:italic> and its downstream target <jats:italic>NRXN1<\/jats:italic>, and <jats:italic>FANCA<\/jats:italic>, <jats:italic>FANCB<\/jats:italic>, and <jats:italic>FANCC<\/jats:italic>, which are associated with Fanconi anemia. These cases, previously published case reports, and comparisons to other EA\/TEF genes made using a machine learning algorithm, provide evidence in support of a potential pathogenic role for these genes in the development of EA\/TEF.<\/jats:p>","DOI":"10.1002\/ajmg.a.62976","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T12:28:22Z","timestamp":1663849702000},"page":"3492-3504","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Exome sequencing efficacy and phenotypic expansions involving esophageal atresia\/tracheoesophageal fistula plus"],"prefix":"10.1002","volume":"188","author":[{"given":"Mary R.","family":"Sy","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas 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Chen R. Da M. Qian B. & Mo X. (2018). 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