ArticleResearch and practice in thrombosis and haemostasis2024
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.
Article in Research and practice in thrombosis and haemostasis, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Genetic and hemostatic characterization of PAI-1 deficiency and isolated hyperfibrinolysis: data from the RBiN study.Research and practice in thrombosis and haemostasis · 2026Article
- A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders.Italian journal of pediatrics · 2026Article
- How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders.Blood vessels, thrombosis & hemostasis · 2025Review
- von Willebrand disease combined with other hemostasis disorders: an overlooked clinical entity.Research and practice in thrombosis and haemostasis · 2025Article
- Review
- Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.Haemophilia : the official journal of the World Federation of Hemophilia · 2025Article
- Health-related quality of life in rare bleeding disorders: results from the Rare Bleeding Disorders in the Netherlands study.Research and practice in thrombosis and haemostasis · 2025Article
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16 authors.
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Abstract
Background: Rare coagulation factor deficiencies and disorders of fibrinolysis (defined as rare bleeding disorders [RBDs]) present with a heterogeneous bleeding phenotype, and bleeding severity is difficult to predict. Objectives: Describe underlying rare genetic variants in the Dutch RBD population and investigate the relationship between genotype, laboratory phenotype, and clinical phenotype. Methods: The Rare Bleeding Disorders in the Netherlands is a cross-sectional, nationwide study conducted between October 1, 2017, and November 30, 2019. Bleeding scores and blood samples were collected during a single study visit. Coagulation factor levels were measured centrally, and targeted exome analysis was performed on 156 genes involved in thrombosis and hemostasis. Pathogenicity was assigned according to the Association for Clinical Genetic Science guidelines. Results: Rare genetic variants specific to the diagnosed RBD were found in 132 of 156 patients (85%). Of the 214 rare genetic variants identified, 57% ( Conclusion: Targeted exome analysis may offer advantages over single-gene analysis, emphasized by a number of combined deficiencies in this study. Further studies are required to determine the role of co-occurring hemostasis gene variants on the bleeding phenotype in RBDs.
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