Associated Papers
Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.
Yadegari H et al.
Thrombosis and Haemostasis, 2026
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Von Willebrand factor and von Willebrand disease in ageing: mechanisms, evolving phenotypes, and clinical implications.
Seidizadeh O et al.
The Lancet. Haematology, 2025
von Willebrand disease combined with other hemostasis disorders: an overlooked clinical entity.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
The pivotal role of von Willebrand factor binding to platelet αIIbβ3 in stabilizing the formation of a platelet plug at sites of injury.
Shi Q et al.
Haematologica, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleeding.
Friedman RK et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
A novel genomic approach to elucidate the cause and clinical implications of reduced von Willebrand factor levels.
Atiq F
Journal of Thrombosis and Haemostasis : Jth, 2025
Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.
Atiq F et al.
Blood, 2025
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical utility of panel-based genetic sequencing for von Willebrand disease.
Ramanan R et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Acquired von Willebrand syndrome secondary to monoclonal gammopathy: a single-center case series.
Van Thillo Q et al.
Therapeutic Advances in Hematology, 2025
Systematic phenotype and genotype characterization of Moebius syndrome.
Webb BD et al.
Genetics in Medicine Open, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
R1205H (Vicenza) causes conformational changes in the von Willebrand factor D'D3 domains and enhances von Willebrand factor binding to clearance receptors LRP1 and SR-AI.
Atiq F et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Variant p.Tyr1584Cys: a frequent von Willebrand factor variant in search of von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2024
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.
Willems SPE et al.
Research and Practice in Thrombosis and Haemostasis, 2024
The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change.
Christopherson PA et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
The search for the underlying mutations causing VWD in 13 Venezuelan families.
Marchi R et al.
Thrombosis Research, 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Connaughton DM et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience.
Van Laer C et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.
Atiq F et al.
Blood Advances, 2022
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Pankratz N et al.
Human Molecular Genetics, 2022
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.
Atiq F et al.
Hemasphere, 2022
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.
Lapić I et al.
Croatian Medical Journal, 2022
Single-cell transcriptional analysis of human endothelial colony-forming cells from patients with low VWF levels.
Ng CJ et al.
Blood, 2022
Genetic associations of protein-coding variants in human disease.
Sun BB et al.
Nature, 2022
Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.
Lago J et al.
Genes, 2021
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.
Bell S et al.
Communications Biology, 2021