Discover Community Create You

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

Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.

European journal of medical genetics - 1 May 2020

Batlle-Masó Laura, Mensa-Vilaró Anna, Solís-Moruno Manuel, Marquès-Bonet Tomàs, Arostegui Juan I, Casals Ferran

Abstract excerpt

Autoinflammatory diseases comprise a wide range of syndromes caused by dysregulation of the innate immune response. They are difficult to diagnose due to their phenotypic heterogeneity and variable expressivity. Thus, the genetic origin of the disease remains undetermined for an important proportion of patients. We aim to identify causal genetic variants in patients with suspected autoinflammatory disease and to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoimmune Diseases
Share to Deoxyribonucleases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Testing

Share to Membrane Proteins

Share to Mutation

Share to NF-KappaB Inhibitor alpha

Share to Nod2 Signaling Adaptor Protein

Source

Identifiers

PMID: 32222431
DOI: 10.1016/j.ejmg.2020.103920

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.PMID 32222431Read ↗

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing EraSemantic proximity Read ↗

Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?Semantic proximity Read ↗

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.Semantic proximity Read ↗

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypesSemantic proximity Read ↗

Genetic landscape of rare autoinflammatory disease variants in Qatar and Middle Eastern populations through the integration of whole-genome and exome datasetsSemantic proximity Read ↗

Genotype-phenotype correlations in autoimmune and autoinflammatory diseases: An NGS-based immunogenetic cohort study.Semantic proximity Read ↗

Decoding variants of uncertain significance in systemic autoinflammatory diseases.Semantic proximity Read ↗

Current and future advances in genetic testing in systemic autoinflammatory diseases.Semantic proximity Read ↗

Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.Semantic proximity Read ↗

Exome sequencing uncovers phenotypic and genotypic heterogeneity in 198 Indian families evaluated for autoinflammatory disordersSemantic proximity Read ↗

Genetics in inborn errors of immunity: pediatric autoinflammatory phenotypes and the underlying genetic causes in 125 familiesSemantic proximity Read ↗

A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disordersSemantic proximity Read ↗

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