Genetic variants of VWF gene in type 2 von Willebrand disease

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Diagnostic approach to von Willebrand disease

(2015) C. Ng et al.   BLOOD

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Pfam protein families database: towards a more sustainable future

(2015) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

How I treat type 2 variant forms of von Willebrand disease

(2014) A. Tosetto et al.   BLOOD

GBshape: a genome browser database for DNA shape annotations

(2014) Tsu-Pei Chiu et al.   NUCLEIC ACIDS RESEARCH

Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project

(2013) J. M. Johnsen et al.   BLOOD

A Variational Bayes Discrete Mixture Test for Rare Variant Association

(2013) Benjamin A. Logsdon et al.   GENETIC EPIDEMIOLOGY

Characterisation of mutations and molecular studies of type 2 von Willebrand disease

(2012) F. Ahmad et al.   THROMBOSIS AND HAEMOSTASIS

VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population

(2011) D. B. Bellissimo et al.   BLOOD

Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor

(2010) V. H. Flood et al.   BLOOD

An Arg545→ Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease

(2010) Mikael Donnér et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Factor VIII and von Willebrand factor - too sweet for their own good

(2010) P. J. LENTING et al.   HAEMOPHILIA

ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders

(2010) F. RODEGHIERO et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Mechanoenzymatic Cleavage of the Ultralarge Vascular Protein von Willebrand Factor

(2009) X. Zhang et al.   SCIENCE

Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD

(2008) G. Castaman et al.   BLOOD

Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients

(2008) A. B. Federici et al.   BLOOD