Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf
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
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
Group association test using a hidden Markov model.
Cheng Y et al.
Biostatistics (oxford, England), 2016
A variational Bayes discrete mixture test for rare variant association.
Logsdon BA et al.
Genetic Epidemiology, 2014
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.
Wang QY et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.
Bellissimo DB et al.
Blood, 2012
Select a paper to view details