ArticleThe New England journal of medicine2025
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
Article in The New England journal of medicine, 2025. 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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Who cites it
10 citing papers in PubMed.
- Illuminating ribosome biogenesis disorders through structural biology.RNA biology · 2026Review
- A Rare Case of Neonatal-Onset Diarrhea Due to Congenital Tufting Enteropathy: Clinical, Histopathological, and Genetic Insights.Reports (MDPI) · 2026Article
- Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant - a case-based review and variant analysis.Journal of human genetics · 2026Review
- The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East.JPGN reports · 2026Article
- GRWD1 enhances HSV-1 replication by facilitating nuclear egress.Microbiology spectrum · 2026Article
- LEF1 gene mutation impairs the intestinal barrier and causes diarrhea.Molecular and cellular pediatrics · 2026Article
- Novel homozygous variant in ACSL5 gene causing Congenital Diarrhea and Enteropathy (CODE) with sustained therapeutic success: a case report.BMC pediatrics · 2026Article
- Intestinal and Multivisceral Transplantation: Where We Stand Today.Pediatric transplantation · 2026Review
- Congenital diarrhoea and enteropathy genetics.Nature reviews. Gastroenterology & hepatology · 2025Article
- Congenital diarrhea and enteropathies caused by a heterozygous mutation in theFrontiers in pediatrics · 2025Article
Corrections and comments
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Authors and funding
34 authors.
Funding
Abstract
backgroundNext-generation sequencing has enabled precision therapeutic approaches that have improved the lives of children with rare diseases. Congenital diarrhea and enteropathies (CODEs) are associated with high morbidity and mortality. Although treatment of these disorders is largely supportive, emerging targeted therapies based on genetic diagnoses include specific diets, pharmacologic treatments, and surgical interventions.
methodsWe analyzed the exomes or genomes of infants with suspected monogenic congenital diarrheal disorders. Using cell and zebrafish models, we tested the effects of variants in newly implicated genes.
resultsIn our case series of 129 infant probands with suspected monogenic congenital diarrheal disorders, we identified causal variants, including a new founder
conclusionsWe have characterized the broad genetic architecture of CODE disorders in a large case series of patients and identified three novel genes associated with CODEs. (Funded by the National Institutes of Health and others.).
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