ReviewHematology. American Society of Hematology. Education Program2016
Diagnosing von Willebrand disease: genetic analysis.
Review in Hematology. American Society of Hematology. Education Program, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 37 citations in OpenAlex.
- Genetic analysis using long-read sequencing to overcome the difficulties inResearch and practice in thrombosis and haemostasis · 2025Article
- Von Willebrand disease (VWD) and pregnancy: a comprehensive overview.Thrombosis journal · 2025Review
- Clinical utility of panel-based genetic sequencing for von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025Article
- Article
- Clinical and laboratory presentation of von Willebrand disease: Experience from a single center in Saudi Arabia.Journal of Taibah University Medical Sciences · 2023Article
- Syntaxin 5 determines Weibel-Palade body size and von Willebrand factor secretion by controlling Golgi architecture.Haematologica · 2022Article
- A novel mouse model of type 2N VWD was developed by CRISPR/Cas9 gene editing and recapitulates human type 2N VWD.Blood advances · 2022Article
- Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.Research and practice in thrombosis and haemostasis · 2022Article
- Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.Croatian medical journal · 2022Article
- Hemostatic profile detailing in apparent VWD cases: A cross sectional study.Saudi journal of biological sciences · 2021Article
- Article
- Effectiveness and safety of hFVIII/VWF concentrate (VoncentoBlood transfusion = Trasfusione del sangue · 2021Observational
- Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met MutationTurkish journal of haematology : official journal of Turkish Society of Haematology · 2020Article
- Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D'D3 and D4 domains.Blood advances · 2020Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Investigation of a patient with possible von Willebrand disease (VWD) includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient's disorder, and for this group, genetic analysis can aid diagnosis of disease type. Polymerase chain reaction and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next-generation sequencing has become available, with the advantage that several genes can be simultaneously analyzed where necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A. Additionally, several techniques can now identify deletions/duplications of an exon or more that result in VWD including multiplex ligation-dependent probe amplification and microarray analysis. Algorithms based on next-generation sequencing data can also identify missing or duplicated regions. These newer techniques enable causative von Willebrand factor defects to be identified in more patients than previously, aiding in a specific VWD diagnosis. Genetic analysis can also be helpful in the discrimination between type 2B and platelet-type VWD and in prenatal diagnosis for families with type 3.
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