ArticleProceedings of the National Academy of Sciences of the United States of America2018
Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- A medium throughput approach for single cell copy number variation sequencing towards efficient application in clinics.Journal of advanced research · 2026Article
- How Epigenetics Bridges Genes and Environment: A Multiomics Evidence Chain in Congenital Diaphragmatic Hernia.Birth defects research · 2026Review
- Review
- Fetal therapy for congenital diaphragmatic hernia: past, present and future.World journal of pediatric surgery · 2024Review
- Prenatal diagnosis and risk stratification of congenital diaphragmatic hernia.World journal of pediatric surgery · 2024Review
- PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.American journal of human genetics · 2023Article
- Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.Prenatal diagnosis · 2022Article
- Cellular, molecular, and metabolic aspects of developing lungs in congenital diaphragmatic hernia.Frontiers in pediatrics · 2022Review
- An infant with hyperechoic cystic kidneys and congenital diaphragmatic hernia: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- The Role ofGenes · 2021Review
- CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.Nucleic acids research · 2021Article
- Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.Frontiers in pediatrics · 2021Review
- Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.HGG advances · 2020Article
- The influence of genetics in congenital diaphragmatic hernia.Seminars in perinatology · 2020Review
- Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations.Molecular genetics & genomic medicine · 2020Article
- De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.PLoS genetics · 2018Observational
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
Abstract
Congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and hypoplasia of the lungs, is one of the most common and severe birth defects, and is associated with high morbidity and mortality rates. There is growing evidence demonstrating that genetic factors contribute to CDH, although the pathogenesis remains largely elusive. Single-nucleotide polymorphisms have been studied in recent whole-exome sequencing efforts, but larger copy number variants (CNVs) have not yet been studied on a large scale in a case control study. To capture CNVs within CDH candidate regions, we developed and tested a targeted array comparative genomic hybridization platform to identify CNVs within 140 regions in 196 patients and 987 healthy controls, and identified six significant CNVs that were either unique to patients or enriched in patients compared with controls. These CDH-associated CNVs reveal high-priority candidate genes including
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