VWF‐Gly2752Ser, a novel non‐cysteine substitution variant in the CK domain, exhibits severe secretory impairment by hampering C‐terminal dimer formation

Essential role of a carboxyl‐terminal α‐helix motif in the secretion of coagulation factor XI

(2021) Yuri Hayakawa et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease

(2021) Paula D. James et al.   Blood Advances

von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention

(2021) Hamideh Yadegari et al.   HUMAN MUTATION

Endothelial characteristics in healthy endothelial colony forming cells; generating a robust and valid ex vivo model for vascular disease

(2020) Suzan de Boer et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Laboratory Variability in the Diagnosis of Type 2 VWD Variants

(2020) Stefanie DiGiandomenico et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Standardization of methods to quantify and culture endothelial colony‐forming cells derived from peripheral blood

(2019) David M. Smadja et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Variability of von Willebrand factor‐related parameters in endothelial colony forming cells

(2019) Annika Jong et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Von Willebrand disease mutation spectrum and associated mutation mechanisms

(2017) Annika de Jong et al.   THROMBOSIS RESEARCH

Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami

(2016) T. Obser et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

ADAMTS13 content and VWF multimer and triplet structure in commercially available VWF/FVIII concentrates

(2015) Christoph Kannicht et al.   BIOLOGICALS

von Willebrand factor is dimerized by protein disulfide isomerase

(2015) Svenja Lippok et al.   BLOOD

Diagnostic approach to von Willebrand disease

(2015) C. Ng et al.   BLOOD

von Willebrand factor biosynthesis, secretion, and clearance: connecting the far ends

(2015) P. J. Lenting et al.   BLOOD

Highly reinforced structure of a C-terminal dimerization domain in von Willebrand factor

(2014) Y.-F. Zhou et al.   BLOOD

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor

(2014) Camilo Aponte-Santamaría et al.   THROMBOSIS AND HAEMOSTASIS

Unwinding the von Willebrand factor strings puzzle

(2012) K. De Ceunynck et al.   BLOOD

A pH-regulated dimeric bouquet in the structure of von Willebrand factor

(2011) Yan-Feng Zhou et al.   EMBO JOURNAL

Intracellular Storage and Regulated Secretion of Von Willebrand Factor in Quantitative Von Willebrand Disease

(2011) Jiong-Wei Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Expanded phenotype-genotype correlations in a pediatric population with type 1 von Willebrand disease

(2011) J. D. ROBERTSON et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Biology and physics of von Willebrand factor concatamers

(2011) T. A. SPRINGER   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Analysis of von Willebrand factor structure by multimer analysis

(2010) Marlies R. Ledford-Kraemer   AMERICAN JOURNAL OF HEMATOLOGY

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

Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease

(2008) L. BARONCIANI et al.   HAEMOPHILIA

von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA)

(2008) W. L. NICHOLS et al.   HAEMOPHILIA

Assembly of Weibel Palade body-like tubules from N-terminal domains of von Willebrand factor

(2008) R.-H. Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA