{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:17:49Z","timestamp":1783012669455,"version":"3.54.6"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T00:00:00Z","timestamp":1775433600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T00:00:00Z","timestamp":1775433600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100012508","name":"Fore Hadley Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012508","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":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children \u2264\u200918\u2009years of age with CDH compared with genome sequencing (GS) from an institutional cohort. ES was available for 560 individuals (62% [\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009349] complex\/syndromic; 38% [\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009211] isolated\/non\u2010syndromic) with a reportable finding identified in 61% (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009342) overall, including 64% in complex\/syndromic cases and 56% in isolated\/non\u2010syndromic cases. In the institutional cohort, GS was available for 84 individuals (19% [\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200916] complex\/syndromic; 81% [\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200968] isolated\/non\u2010syndromic). In this sub\u2010cohort, 70 individuals had variants (539 total) in genes in which variants were reported in the GeneDx cohort (234 genes). The study cohort was compared to an unrelated cohort with neural tube defects and, when evaluating 73 genes with variants present in &gt;\u20091 GeneDx proband, we noted a significantly higher variant burden in the CDH cohort. Overlap of genes with variants among unrelated cohorts suggests a potential etiologic association of many known and novel CDH genes; however, additional research is needed to understand the genes' causative roles as well as the impact of non\u2010coding and gene\u2013environment influences on the etiology of CDH.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70145","type":"journal-article","created":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T06:56:12Z","timestamp":1775544972000},"page":"1821-1831","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort"],"prefix":"10.1002","volume":"200","author":[{"given":"Justin","family":"Blair","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7102-3284","authenticated-orcid":false,"given":"Kevin","family":"Carratu","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics Cohen Children's Medical Center (CCMC), Northwell Health  Great Neck New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie E.","family":"Rintoul","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Children's Hospital of Philadelphia Perelman School of Medicine at University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly L.","family":"Hedrick","sequence":"additional","affiliation":[{"name":"Division of Pediatric General, Thoracic and Fetal Surgery, Children's Hospital of Philadelphia Perelman School of Medicine at University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William H.","family":"Peranteau","sequence":"additional","affiliation":[{"name":"Division of Pediatric General, Thoracic and Fetal Surgery, Children's Hospital of Philadelphia Perelman School of Medicine at University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2354-5447","authenticated-orcid":false,"given":"Catherine M.","family":"Avitabile","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Children's Hospital of Philadelphia Perelman School of Medicine at University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsty","family":"McWalter","sequence":"additional","affiliation":[{"name":"GeneDx LLC  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Kruszka","sequence":"additional","affiliation":[{"name":"GeneDx LLC  Gaithersburg Maryland USA"},{"name":"Department of Pediatrics, University of Virginia School of Medicine University of Viriginia  Charlottesville Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2442-1128","authenticated-orcid":false,"given":"Ian D.","family":"Krantz","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics Cohen Children's Medical Center (CCMC), Northwell Health  Great Neck New York USA"},{"name":"Department of Pediatrics, Zucker School of Medicine Hofstra University  Hempstead New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. Taylor","family":"Wild","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Children's Hospital of Philadelphia Perelman School of Medicine at University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia Perelman School of Medicine at University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,6]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010010"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000550647"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201872"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6268"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803\u2010018\u20103472\u20106"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20103468(97)90212\u20108"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.06.013"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62919"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5327"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.028365"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2022.03.023"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1053\/jpsu.2001.20722"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1412509111"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12395"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6727"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.06.048"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30126"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2024.08.024"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u20100908\u20100"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.08.011"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61182"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1121621109"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102020\u2010107317"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1106"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.04.012"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2021.03.048"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2022.04.012"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv196"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70145","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70145","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70145","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:29:12Z","timestamp":1783009752000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,6]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/ajmg.a.70145"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70145","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,6]]},"assertion":[{"value":"2025-10-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}