ReviewEuropean journal of human genetics : EJHG2021
Genetics of diaphragmatic hernia.
Review in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
10 citing papers in PubMed.
- How Epigenetics Bridges Genes and Environment: A Multiomics Evidence Chain in Congenital Diaphragmatic Hernia.Birth defects research · 2026Review
- Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia.Human genetics · 2025Article
- Article
- SOX17 in pulmonary arterial hypertension: from development to clinical phenotype.European respiratory review : an official journal of the European Respiratory Society · 2025Review
- Differentiating Imaging Characteristics of Congenital Diaphragmatic Hernia and Diaphragmatic Eventration.Journal of multidisciplinary healthcare · 2025Article
- Toll-like receptors ligand immunomodulators for the treatment congenital diaphragmatic hernia.Orphanet journal of rare diseases · 2024Article
- aCGH Analysis Reveals Novel Mutations Associated with Congenital Diaphragmatic Hernia Plus (CDH+).Journal of clinical medicine · 2023Article
- Article
- Cellular, molecular, and metabolic aspects of developing lungs in congenital diaphragmatic hernia.Frontiers in pediatrics · 2022Review
- Genomics elucidates both common and rare disease aetiology.European journal of human genetics : EJHG · 2021Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal prognostication parameter to predict clinical outcome in CDH patients. Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarises the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia.
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Registered trials
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