ReviewGenes2021
The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.
Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Pooled it
- Advancing precision hepatology for rare paediatric liver diseases.European journal of pediatrics · 2026Review
- Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease.World journal of hepatology · 2026Article
- The changing metabolic landscape of bile acids - keys to metabolism and immune regulation.Nature reviews. Gastroenterology & hepatology · 2024Review
- Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.JHEP reports : innovation in hepatology · 2024Article
- Treatment of Cholestasis in Infants and Young Children.Current gastroenterology reports · 2023Review
- Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal.Healthcare (Basel, Switzerland) · 2022Review
- Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report.JNMA; journal of the Nepal Medical Association · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver diseases of unknown cause has also uncovered novel gene-disease associations and improved our understanding of physiological bile secretion and flow. By helping to define the molecular basis of certain cholestatic disorders, these methods have also identified new targets for therapy as well patient subgroups more likely to benefit from specific therapies. At the same time, sequencing methods have presented new diagnostic challenges, such as the interpretation of single heterozygous genetic variants. This article discusses those challenges in the context of neonatal and infantile cholestasis, focusing on difficulties in predicting variant pathogenicity, the possibility of other causal variants not identified by the genetic screen used, and phenotypic variability among patients with variants in the same genes. A prospective, observational study performed between 2010-2013, which sequenced six important genes (
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.