ArticleGenes2021
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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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.
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Who cites it
4 citing papers in PubMed, 11 citations in OpenAlex.
- Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- A clinical predictive score of high liver iron content in metabolic hyperferritinemia: a retrospective cohort pilot study.BMC gastroenterology · 2025Article
- Investigation of BMP6 mutations in Brazilian patients with iron overload.Hematology, transfusion and cell therapy · 2024Article
- Primary Non-HFE Hemochromatosis: A Review.Journal of clinical and translational hepatology · 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
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSeveral inherited diseases cause hyperferritinemia with or without iron overload. Differential diagnosis is complex and requires an extensive work-up. Currently, a clinical-guided approach to genetic tests is performed based on gene-by-gene sequencing. Although reasonable, this approach is expensive and time-consuming and Next Generation Sequencing (NGS) technology may provide cheaper and quicker large-scale DNA sequencing.
methodsWe analysed 36 patients with non-
resultsWe identified six novel mutations in
conclusionsOur results support the use of an NGS-based panel in selected patients with hyperferritinemia in a tertiary center for iron metabolism disorders. However, 26 out of 36 patients did not show genetic variants that can individually explain hyperferritinemia and/or iron overload suggesting the existence of other genetic defects or gene-gene and gene-environment interactions needing further studies.
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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.