ArticleBiomedicines2023
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort.
Article in Biomedicines, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed.
- The role ofFrontiers in immunology · 2026Article
- From local lesion to multisystem disease: integrated crosstalk among the gut microbiota, immune system, and host metabolism in endometriosis.Frontiers in immunology · 2026Review
- Identification of Candidate Genes for Endometriosis in a Three-Generation Family with Multiple Affected Members Using Whole-Exome Sequencing.Biomedicines · 2025Article
- Integration of Single Cell and Bulk RNA-Sequencing Reveals Key Genes and Immune Cell Infiltration to Construct a Predictive Model and Identify Drug Targets in Endometriosis.Journal of inflammation research · 2025Article
- Endometriosis Coinciding with Uterus Didelphys and Renal Agenesis: A Literature Review.Journal of clinical medicine · 2024Review
- A Psychological Point of View on Endometriosis and Quality of Life: A Narrative Review.Journal of personalized medicine · 2024Review
- Dissecting the shared genetic architecture between endometriosis and polycystic ovary syndrome.Frontiers in endocrinology · 2024Article
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
Endometriosis (EM) is a common multifactorial gynaecological disorder. Although Genome-Wide Association Studies have largely been employed, the current knowledge of the genetic mechanisms underlying EM is far from complete, and other approaches are needed. To this purpose, whole-exome sequencing (WES) was performed on a deeply characterised cohort of 80 EM patients aimed at the identification of rare and damaging variants within 46 EM-associated genes and novel candidates. WES analysis detected 63 rare, predicted, and damaging heterozygous variants within 24 genes in 63% of the EM patients. In particular, (1) a total of 43% of patients carried variants within 13 recurrent genes (
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Registered trials
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