Trial reportBritish journal of haematology2017
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Trial report in British journal of haematology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06736158 (Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing), which is not on this map. Cited by 27 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.
Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing: a Randomized Controlled Trial
Who cites it
27 citing papers in PubMed.
- Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects.Haematologica · 2019Trial
- Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.International journal of laboratory hematology · 2026Article
- How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders.Blood vessels, thrombosis & hemostasis · 2025Review
- Implementation and clinical utility of multigene panels for bleeding, platelet, and thrombotic disorders.Journal of thrombosis and haemostasis : JTH · 2025Review
- Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.International journal of molecular sciences · 2025Article
- Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays.Biomolecules · 2025Review
- Epidemiological and clinical characteristics of children and young adults with Glanzmann's thrombasthenia in upper Egypt: a multicenter cross-sectional study.Annals of hematology · 2025Observational
- Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.Research and practice in thrombosis and haemostasis · 2024Article
- Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.Haematologica · 2023Article
- Diagnostic workup of inherited platelet disorders.Blood research · 2022Review
- The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.Journal of thrombosis and haemostasis : JTH · 2021Article
- Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.Journal of clinical immunology · 2021Article
- Platelet proteome and function in X-linked thrombocytopenia with thalassemia andHaematologica · 2021Article
- Identification of a homozygous recessive variant inHaematologica · 2021Article
- Inherited Platelet Disorders: An Updated Overview.International journal of molecular sciences · 2021Review
- Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.Haemophilia : the official journal of the World Federation of Hemophilia · 2021Article
- A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.Human mutation · 2020Article
- Bleeding risks for uncharacterized platelet function disorders.Research and practice in thrombosis and haemostasis · 2020Article
- A scoping review and proposed workflow for multi-omic rare disease research.Orphanet journal of rare diseases · 2020Article
- Diagnostic work up of patients with increased bleeding tendency.Haemophilia : the official journal of the World Federation of Hemophilia · 2020Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare inherited bleeding disorders (IBD) are a common cause of bleeding tendency. To ensure a correct diagnosis, specialized laboratory analyses are necessary. This study reports the results of an upfront diagnostic strategy using targeted whole exome sequencing. In total, 156 patients with a significant bleeding assessment tool score participated in the study, of which a third had thrombocytopenia. Eighty-seven genes specifically associated with genetic predisposition to bleeding were analysed by whole exome sequencing. Variants were classified according to the five-tier scheme. We identified 353 germline variants. Eight patients (5%) harboured a known pathogenic variant. Of the 345 previously unknown variants, computational analyses predicted 99 to be significant. Further filtration according to the Mendelian inheritance pattern, resulted in 59 variants being predicted to be clinically significant. Moreover, 34% (20/59) were assigned as novel class 4 or 5 variants upon targeted functional testing. A class 4 or 5 variant was identified in 30% of patients with thrombocytopenia (14/47) versus 11% of patients with a normal platelet count (12/109) (P < 0·01). An IBD diagnosis has a major clinical impact. The genetic investigations detailed here extricated our patients from a diagnostic conundrum, thus demonstrating that continuous optimization of the diagnostic work-up of IBD is of great benefit.
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