{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:25:39Z","timestamp":1789644339793,"version":"4.0.0"},"reference-count":52,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,7,29]],"date-time":"2022-07-29T00:00:00Z","timestamp":1659052800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004917","name":"Cancer Prevention and Research Institute of Texas","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004917","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","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":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes that contribute to diaphragm development. Here, we used clinical and molecular data from 36 individuals with CDH+ who are cataloged in the DECIPHER database to identify genes that may play a role in diaphragm development and to discover new phenotypic expansions. Among this group, we identified individuals who carried putatively deleterious sequence or copy number variants affecting <jats:italic>CREBBP<\/jats:italic>, <jats:italic>SMARCA4, UBA2<\/jats:italic>, and <jats:italic>USP9X<\/jats:italic>. The role of these genes in diaphragm development was supported by their expression in the developing mouse diaphragm, their similarity to known CDH genes using data from a previously published and validated machine learning algorithm, and\/or the presence of CDH in other individuals with their associated genetic disorders. Our results demonstrate how data from DECIPHER, and other public databases, can be used to identify new phenotypic expansions and suggest that <jats:italic>CREBBP<\/jats:italic>, <jats:italic>SMARCA4, UBA2<\/jats:italic>, and <jats:italic>USP9X<\/jats:italic> play a role in diaphragm development.<\/jats:p>","DOI":"10.1002\/ajmg.a.62919","type":"journal-article","created":{"date-parts":[[2022,7,29]],"date-time":"2022-07-29T16:37:26Z","timestamp":1659112646000},"page":"2958-2968","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Identifying phenotypic expansions for congenital diaphragmatic hernia plus (<scp>CDH<\/scp>+) using <scp>DECIPHER<\/scp> data"],"prefix":"10.1002","volume":"188","author":[{"given":"Amy","family":"Hardcastle","sequence":"first","affiliation":[{"name":"Department of Microbiology and Molecular Biology, College of Life Sciences Brigham Young University  Provo Utah 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