ArticleBlood2019
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Article in Blood, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers.
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Who cites it
101 citing papers in PubMed, 214 citations in OpenAlex.
- Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.International journal of laboratory hematology · 2026Article
- Genetic and hemostatic characterization of PAI-1 deficiency and isolated hyperfibrinolysis: data from the RBiN study.Research and practice in thrombosis and haemostasis · 2026Article
- Functional Characterization of the VWF p.Cys2163Tyr Variant Reveals Impaired Secretion and Intracellular Processing.Biomolecules · 2026Article
- Multigene panel analysis of connective tissue and vascular genes in patients with a bleeding disorder of unknown cause or a cerebrovascular event.Research and practice in thrombosis and haemostasis · 2026Article
- Abnormal whole-blood viscoelastic test results in patients with bleeding disorder of unknown cause.Blood vessels, thrombosis & hemostasis · 2026Article
- CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family.International journal of hematology · 2026Article
- GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review.Annals of hematology · 2026Review
- Molecular diagnosis of inherited platelet disorder via a targeted whole-exome virtual gene panel: a 5-year institutional experience.Research and practice in thrombosis and haemostasis · 2026Article
- Altered platelet lipidome in bleeding patients with unexplained platelet function defects.Haematologica · 2026Article
- Diagnosis of bleeding disorder of unknown cause: how many tests are enough to diagnose BDUC?Hematology. American Society of Hematology. Education Program · 2025Review
- When it's not Glanzmann thrombasthenia or Bernard-Soulier syndrome: diagnosing other qualitative platelet disorders.Hematology. American Society of Hematology. Education Program · 2025Review
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Characterization of Novel Variants inBiomolecules · 2025Article
- How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders.Blood vessels, thrombosis & hemostasis · 2025Review
- Key residues regulating von Willebrand factor A1/A2 interactions: insights from molecular dynamics simulations and experimental validation.Research and practice in thrombosis and haemostasis · 2025Article
- Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish.Blood advances · 2025Article
- Insights into the Expression, Structure, and Function of the Thromboxane AACS pharmacology & translational science · 2025Review
- Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits.Blood vessels, thrombosis & hemostasis · 2025Article
- Implementation and clinical utility of multigene panels for bleeding, platelet, and thrombotic disorders.Journal of thrombosis and haemostasis : JTH · 2025Review
- Article
41 more citing papers are in PubMed but not listed here.
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Authors and funding
38 authors at 11 institutions in 5 countries.
Funding
Abstract
A targeted high-throughput sequencing (HTS) panel test for clinical diagnostics requires careful consideration of the inclusion of appropriate diagnostic-grade genes, the ability to detect multiple types of genomic variation with high levels of analytic sensitivity and reproducibility, and variant interpretation by a multidisciplinary team (MDT) in the context of the clinical phenotype. We have sequenced 2396 index patients using the ThromboGenomics HTS panel test of diagnostic-grade genes known to harbor variants associated with rare bleeding, thrombotic, or platelet disorders (BTPDs). The molecular diagnostic rate was determined by the clinical phenotype, with an overall rate of 49.2% for all thrombotic, coagulation, platelet count, and function disorder patients and a rate of 3.2% for patients with unexplained bleeding disorders characterized by normal hemostasis test results. The MDT classified 745 unique variants, including copy number variants (CNVs) and intronic variants, as pathogenic, likely pathogenic, or variants of uncertain significance. Half of these variants (50.9%) are novel and 41 unique variants were identified in 7 genes recently found to be implicated in BTPDs. Inspection of canonical hemostasis pathways identified 29 patients with evidence of oligogenic inheritance. A molecular diagnosis has been reported for 894 index patients providing evidence that introducing an HTS genetic test is a valuable addition to laboratory diagnostics in patients with a high likelihood of having an inherited BTPD.
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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.