ArticleDiagnostics (Basel, Switzerland)2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Article in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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
13 citing papers in PubMed, 18 citations in OpenAlex.
- Dynamic landmark models predicting native liver survival after kasai portoenterostomy: a bicentric study.Pediatric surgery international · 2026Article
- Stratified Use of Genetic Testing in Liver Disease Improves Diagnostic Yield and Clinical Impact.International journal of molecular sciences · 2026Article
- A Rare Nonsense Mutation in theJournal of clinical medicine · 2026Article
- Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults.Frontiers in pediatrics · 2026Article
- Unfolding the genetic map of monogenic liver diseases in Egypt.Human genetics · 2025Article
- Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.Orphanet journal of rare diseases · 2025Article
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- Newly Described Mutations of theCurrent pediatric reviews · 2025Article
- PytheasDB: An open-access graphical database of clinical data on rare pediatric digestive diseases.Intractable & rare diseases research · 2024Article
- Article
- Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.JHEP reports : innovation in hepatology · 2024Article
- Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.JHEP reports : innovation in hepatology · 2023Article
- Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival - a case report.Annals of medicine and surgery (2012) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an efficient diagnostic tool. The objective of this study is to evaluate the use of NGS in children with cholestasis.
methodsChildren presenting cholestasis were included between 2015 and 2020. Molecular sequencing was performed by targeted capture of a panel of 34 genes involved in cholestasis and jaundice. Patients were classified into three categories: certain diagnosis; suggested diagnosis (when genotype was consistent with phenotype for conditions without any available OMIM or ORPHANET-number); uncertain diagnosis (when clinical and para-clinical findings were not consistent enough with molecular findings).
resultsA certain diagnosis was established in 169 patients among the 602 included (28.1%). Molecular studies led to a suggested diagnosis in 40 patients (6.6%) and to an uncertain diagnosis in 21 patients (3.5%). In 372 children (61.7%), no molecular defect was identified.
conclusionsNGS is a useful diagnostic tool in pediatric cholestasis, providing a certain diagnosis in 28.1% of the patients included in this study. In the remaining patients, especially those with variants of uncertain significance, the imputability of the variants requires further investigations.
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.