ArticleInternational journal of molecular sciences2022
Variant Enrichment Analysis to Explore Pathways Functionality in Complex Autoinflammatory Skin Disorders through Whole Exome Sequencing Analysis.
Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Autoinflammatory Syndromes of Hidradenitis Suppurativa: Updates in Clinical Features, Emerging Associations, and Management.Current rheumatology reports · 2026Review
- Serum Proteomic Profiling Uncovers Dysregulated Keratinisation and Immune-Related Pathways in Hidradenitis Suppurativa.Experimental dermatology · 2026Article
- Pyoderma gangrenosum: pathogenetic mechanisms and their implications for treatment.Seminars in immunopathology · 2025Review
- Successful Treatment of Refractory Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome with Baricitinib, a Janus Kinase Inhibitor.Clinical, cosmetic and investigational dermatology · 2024Article
- Successful Treatment of Refractory Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome and Paradoxical Psoriasis with Secukinumab: A Case Report.Clinical, cosmetic and investigational dermatology · 2024Article
- Different molecular pathways are disrupted in Pyoderma gangrenosum patients and are associated with the severity of the disease.Scientific reports · 2023Article
- Clinical and Molecular Characterization of Hidradenitis Suppurativa: A Practical Framework for Novel Therapeutic Targets.Dermatology (Basel, Switzerland) · 2023Article
- Variant Enrichment Analysis to Explore Pathways Disruption in a Necropsy Series of Asbestos-Exposed Shipyard Workers.International journal of molecular sciences · 2022Article
- Recent advances in hidradenitis suppurativa: Role of race, genetics, and immunology.Frontiers in genetics · 2022Article
- A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.Frontiers in immunology · 2022Article
- Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-AnFrontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
The challenge of unravelling the molecular basis of multifactorial disorders nowadays cannot rely just on association studies searching for potential causative variants shared by groups of patients and not present in healthy individuals; indeed, association studies have as a main limitation the lack of information on the interactions between the disease-causing variants. Thus, new genomic analysis tools focusing on disrupted pathways rather than associated gene variants are required to better understand the complexity of a disease. Therefore, we developed the Variant Enrichment Analysis (VEA) workflow, a tool applicable for whole exome sequencing data, able to find differences between the numbers of genetic variants in a given pathway in comparison with a reference dataset. In this study, we applied VEA to discover novel pathways altered in patients with complex autoinflammatory skin disorders, namely PASH (
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