ReviewPediatric surgery international2023
Genetics of Hirschsprung's disease.
Review in Pediatric surgery international, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- A systematic review of school functioning in pediatric patients with Hirschsprung disease.Pediatric surgery international · 2025Pooled it
- Neurotrophin-3 rs1805149A>G variant in Hirschsprung disease: An investigative study.World journal of gastrointestinal surgery · 2026Trial
- Macrophage-enteric nervous system crosstalk in Hirschsprung disease and associated enterocolitis: a focused narrative review with clinical implications.Pediatric surgery international · 2026Review
- Total colonic aganglionosis: a bibliometric analysis of trends and themes (1978-2024).Orphanet journal of rare diseases · 2026Article
- A multicenter study of school functioning in children with Hirschsprung disease in China: a cross-sectional propensity-score-matched analysis.Pediatric surgery international · 2026Article
- Integrated genomic analysis of EDNRB common and rare variants in Hirschsprung disease.Genes & diseases · 2026Article
- Surgical Complications in Hirschsprung Disease and the Impact of Botulinum Toxin Injection on Hirschsprung-Associated Enterocolitis.Journal of clinical medicine · 2026Article
- Aberrant Expressions ofCurrent pediatric reviews · 2026Article
- Extracellular vesicle-mediated transfer of MIR22HG inhibits the colonization of enteric neural crest cells in the colon by decreasing MPP3 expression.Communications biology · 2025Article
- Refining the Sox10Animal models and experimental medicine · 2025Article
- Decreasing Proprotein Convertase 5 Causes Hirschsprung's Disease by Disrupting Neural Crest Cell Migration.Cellular and molecular gastroenterology and hepatology · 2025Article
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- Article
- Aberrant SOX10 and RET expressions in patients with Hirschsprung disease.BMC pediatrics · 2024Article
- Delayed diagnosis in Hirschsprung disease.Pediatric surgery international · 2024Article
- High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.Pediatric surgery international · 2024Article
- Causes and consequences: development and pathophysiology of Hirschsprung disease.World journal of pediatric surgery · 2024Review
- Assessing the impact of novel risk loci on Alzheimer's and Parkinson's diseases in a Chinese Han cohort.Frontiers in neurology · 2024Article
- A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition.Orphanet journal of rare diseases · 2023Observational
- Hirschsprung disease.Nature reviews. Disease primers · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 3 countries.
Funding
Abstract
Hirschsprung's disease (HSCR) is a classical model of enteric neuropathy, occurring in approximately 2-2.8 in 10,000 newborns. It is the commonest form of congenital bowel obstruction and is characterized by the absence of enteric ganglia in distal colon. Recent advances in genome-wide association analysis (GWAS) and next generation sequencing (NGS) studies have led to the discovery of a number of new HSCR candidate genes, thereby providing new insights into the genetic architecture and molecular mechanisms of the disease. Altogether, these findings indicated that genetic heterogeneity, variable penetrance and expressivity, and genetic interaction are the pervasive characteristics of HSCR genetics. In this review, we will provide an update on the genetic landscape of HSCR and discuss how the common and rare variants may act together to modulate the phenotypic manifestation. Translating the genetic findings to genetic risk prediction and to optimize clinical outcomes are undoubtedly the ultimate goals for genetic studies on HSCR. From this perspective, we will further discuss the major obstacles in the clinical translation of these latest genetic findings. Lastly, new measures to address these clinical challenges are suggested to advance precision medicine and to develop novel alternative therapies.
Indexed as
Identifiers
What OpenQuestion holds
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.