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Article

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort.

American journal of medical genetics. Part A - 1 Aug 2026

Blair Justin, Carratu Kevin, Rintoul Natalie E, Hedrick Holly L, Peranteau William H, Avitabile Catherine M, McWalter Kirsty, Kruszka Paul, Krantz Ian D, Wild K Taylor

Abstract excerpt

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 ≤ 18 years of age with CDH compared with genome sequencing (GS) from an institutional cohort. ES was available...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41943597
DOI: 10.1002/ajmg.a.70145

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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