I. M. Nesbitt

Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor.

J. Ingerslev, A. Goodeve, I. Peake, 2000, Blood.

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

E. Bongers, G. Pals, H. Meijers-Heijboer, 2009, European Journal of Human Genetics.

The management of von Willebrand's disease-associated gastrointestinal angiodysplasia

M. Makris, F. Preston, I. M. Nesbitt, 2001, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

PPIB mutations cause severe osteogenesis imperfecta.

G. Pals, H. Meijers-Heijboer, E. Sistermans, 2009, American journal of human genetics.

Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

G. Pals, P. Nikkels, R. V. van Rijn, 2011, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Next Generation Sequencing in the National Health Service England: A Pipeline that Completely Agrees with Sanger

D. Grafham, A. Dalton, K. Blighe, 2014 .

Characterisation of Type 2N von Willebrand Disease Using Phenotypic and Molecular Techniques

M. Makris, F. Preston, A. Goodeve, 1996, Thrombosis and Haemostasis.