Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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 - 1 May 2026

Morel Paul, Silva Rodriguez Maël, Benmouffek Cyriaque, Goksen Betul, Chéry Céline, Haghnejad Vincent, Bensenane Mouni, Feillet François, Guéant Jean-Louis, Namour Farès, Bronowicki Jean-Pierre, Oussalah Abderrahim

Abstract excerpt

BACKGROUND AND AIMS: Hyperferritinemia encompasses heterogeneous genetic etiologies beyond HFE-related hemochromatosis. Current guidelines recommend testing for rare hemochromatosis genes, yet no consensus exists on comprehensive genomic approaches. We aimed to characterise the genetic landscape of unexplained hyperferritinemia using clinical exome sequencing (CES) and evaluate genotype-phenotype correlations...

Topics

Join the communities discussing this publication.

Exome Sequencing
CP gene
Genetic Association Studies
Hemochromatosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hemochromatosis Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 41968586
DOI: 10.1111/liv.70646
PMCID: PMC13071257

Genes

HFE
ATP7B
SERPINA1
CP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis.PMID 41968586Read ↗

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.Semantic proximity Read ↗

Unraveling genotype-phenotype relationships in hereditary hemochromatosis through integrated biobank data analysis.Semantic proximity Read ↗

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.Semantic proximity Read ↗

GNPAT Variant associated with severe iron overload in HFE hemochromatosisSemantic proximity Read ↗

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.Semantic proximity Read ↗

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.Semantic proximity Read ↗

Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.Semantic proximity Read ↗

Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting.Semantic proximity Read ↗

Testing and Management of Iron Overload After Genetic Screening–Identified HemochromatosisSemantic proximity Read ↗

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.Semantic proximity Read ↗

Genetic and lifestyle modifiers of haemochromatosis-related clinical outcomes in HFE C282Y homozygotes: prospective cohort study in UK BiobankSemantic proximity Read ↗

Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.