ArticleAnnals of the rheumatic diseases2018
Multi-OMICS analyses unveil
Article in Annals of the rheumatic diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.Frontiers in immunology · 2024Pooled it
- Algorithms and tools for data-driven omics integration to achieve multilayer biological insights: a narrative review.Journal of translational medicine · 2025Review
- The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.Frontiers in immunology · 2023Review
- Isolated neurological presentations of mevalonate kinase deficiency.JIMD reports · 2023Article
- Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.Genes & diseases · 2022Review
- A Pro-Inflammatory Signature Constitutively Activated in Monogenic Autoinflammatory Diseases.International journal of molecular sciences · 2022Article
- Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.International journal of molecular sciences · 2021Review
- Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.Journal of clinical medicine · 2021Article
- Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease.Frontiers in immunology · 2021Review
- Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1.Cancers · 2020Article
- A scoping review and proposed workflow for multi-omic rare disease research.Orphanet journal of rare diseases · 2020Article
- Periodic fever syndromes and the autoinflammatory diseases (AIDs).Journal of translational autoimmunity · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe objective of the present study was to explain why two siblings carrying both the same homozygous pathogenic mutation for the autoinflammatory disease hyper IgD syndrome, show opposite phenotypes, that is, the first being asymptomatic, the second presenting all classical characteristics of the disease.
methodsWhere single omics (mainly exome) analysis fails to identify culprit genes/mutations in human complex diseases, multiomics analyses may provide solutions, although this has been seldom used in a clinical setting. Here we combine exome, transcriptome and proteome analyses to decipher at a molecular level, the phenotypic differences between the two siblings.
resultsThis multiomics approach led to the identification of a single gene
conclusionsThis study demonstrates the power of a multiomics approach to uncover potential clinically actionable targets for a personalised therapy. In more general terms, we provide a proteogenomics analysis pipeline that takes advantage of subject-specific genomic and transcriptomic information to improve protein identification and hence advance individualised medicine.
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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.