ReviewSeminars in perinatology2020
The influence of genetics in congenital diaphragmatic hernia.
Review in Seminars in perinatology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00950118 (Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science), which is not on this map. Cited by 38 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
Who cites it
38 citing papers in PubMed, 94 citations in OpenAlex.
- Mechanical compression causes lung hypoplasia in congenital diaphragmatic hernia with GATA4 genetic variants.American journal of physiology. Lung cellular and molecular physiology · 2026Article
- Profiling circular RNAs in amniotic fluid and fetal lungs from congenital diaphragmatic hernia cases: insights into potential prognostic and diagnostic applications.Pediatric surgery international · 2026Article
- Investigation of vasoactive intestinal peptide expression and significance in a congenital diaphragmatic hernia animal model.Pediatric surgery international · 2025Article
- Nationwide Danish Register Based Study Showed a Stable Prevalence of Congenital Diaphragmatic Hernias From 1994 to 2021 but a Decrease in Syndromic Cases.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Contribution of omics to the pathophysiology of diaphragmatic hernias: a narrative review.European journal of pediatrics · 2025Review
- Article
- Recurrent status epilepticus and severe bifrontal hypometabolism in PGAP1-related neurodevelopmental disorder.Epileptic disorders : international epilepsy journal with videotape · 2025Article
- Toll-like receptors ligand immunomodulators for the treatment congenital diaphragmatic hernia.Orphanet journal of rare diseases · 2024Article
- Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.Italian journal of pediatrics · 2024Article
- The etiology of congenital diaphragmatic hernia: the retinoid hypothesis 20 years later.Pediatric research · 2024Review
- Role of genetics and the environment in the etiology of congenital diaphragmatic hernia.World journal of pediatric surgery · 2024Review
- Prenatal diagnosis and risk stratification of congenital diaphragmatic hernia.World journal of pediatric surgery · 2024Review
- Strangulated Bochdalek Hernia in Adults: Timely Recognition and Surgical Intervention Can Prevent a Lethal Outcome.Cureus · 2023Article
- PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.American journal of human genetics · 2023Article
- aCGH Analysis Reveals Novel Mutations Associated with Congenital Diaphragmatic Hernia Plus (CDH+).Journal of clinical medicine · 2023Article
- Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes.The Journal of pediatrics · 2023Article
- Termination of pregnancy after a prenatal diagnosis of congenital diaphragmatic hernia: Factors influencing the parental decision process.Prenatal diagnosis · 2023Article
- Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.Prenatal diagnosis · 2022Article
- Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia.The Journal of pediatrics · 2022Article
- Non-Invasive Detection of a De Novo Frameshift Variant ofJournal of clinical medicine · 2022Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Congenital diaphragmatic hernia (CDH) is a common birth defect that is associated with significant morbidity and mortality, especially when associated with additional congenital anomalies. Both environmental and genetic factors are thought to contribute to CDH. The genetic contributions to CDH are highly heterogeneous and incompletely defined. No one genetic cause accounts for more than 1-2% of CDH cases. In this review, we summarize the known genetic causes of CDH from chromosomal anomalies to individual genes. Both de novo and inherited variants contribute to CDH. Genes causing CDH are increasingly identified from animal models and from genomic strategies including exome and genome sequencing in humans. CDH genes are often transcription factors, genes involved in cell migration or the components of extracellular matrix. We provide clinical genetic testing strategies in the clinical evaluation that can identify a genetic cause in up to ∼30% of patients with non-isolated CDH and can be useful to refine prognosis, identify associated medical and neurodevelopmental issues to address, and inform family planning options.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.