The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study

A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

1991 • 2,314 citations

Human non-synonymous SNPs: server and survey

2002 • 2,270 citations

Epidemiological investigation of the prevalence of von Willebrand's disease

1987 • 956 citations

The effect of ABO blood group on the diagnosis of von Willebrand disease

1987 • 898 citations

Accounting for Human Polymorphisms Predicted to Affect Protein Function

2002 • 700 citations

Structure of the gene for human von Willebrand factor

1989 • 497 citations

Amino acid sequence of human von Willebrand factor

1986 • 486 citations

Prevalence of von Willebrand disease in children: A multiethnic study

1993 • 454 citations

Human von Willebrand Factor (vWF): Isolation of Complementary DNA (cDNA) Clones and Chromosomal Localization

1985 • 420 citations

A One-stage Factor VIII (Antihaemophilic Globulin) Assay and its Use on Venous and Capillary Plasma

1962 • 340 citations

Von Willebrand disease type 1: a diagnosis in search of a disease

2003 • 305 citations

Cloning and characterization of two cDNAs coding for human von Willebrand factor.

1985 • 302 citations

Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit.

1986 • 260 citations

Sequence variation at the human ABO locus

2002 • 187 citations

Molecular cloning of cDNA for human von willebrand factor: Authentication by a new method

1985 • 162 citations

Mvwf, a Dominant Modifier of Murine von Willebrand Factor, Results from Altered Lineage-Specific Expression of a Glycosyltransferase

1999 • 162 citations

Serial studies in von Willebrand's disease: variability versus "variants"

1980 • 155 citations

Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor

1996 • 139 citations

Genetics of classic von Willebrand's disease. I. Phenotypic variation within families

1979 • 132 citations

Polymorphism and recombination events at the ABO locus: a major challenge for genomic ABO blood grouping strategies

2001 • 122 citations

Luminographic Detection of von Willebrand Factor Multimers in Agarose Gels and on Nitrocellulose Membranes

1990 • 116 citations

Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease

2003 • 92 citations

Population differences in von Willebrand factor levels affect the diagnosis of von Willebrand disease in African‐American women

2001 • 86 citations

Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins

2001 • 83 citations

Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian Type 1 VWD Study

2006 • 81 citations

A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11

1996 • 62 citations

An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13

2003 • 62 citations

The Role of von Willebrand Factor and Fibrinogen in the Initiation of Platelet Adhesion to Thrombogenic Surfaces

1995 • 50 citations

Autosomal dominant type 1 von Willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect

2000 • 50 citations

Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII‐binding capacity

2003 • 45 citations

Genetics of classic von Willebrand's disease. I. Phenotypic variation within families

1979 • 12 citations