A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry

Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model

(2018) Matthew I. Bellgard et al.   BLOOD CELLS MOLECULES AND DISEASES

Sleep in Angelman syndrome: A review of evidence

(2018) Karen Spruyt et al.   SLEEP MEDICINE REVIEWS

A Web-Based Registry for Familial Hypercholesterolaemia

(2017) Kathryn R Napier et al.   Heart Lung and Circulation

Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration

(2017) Matthew I Bellgard et al.   Journal of Atherosclerosis and Thrombosis

A Comprehensive Assessment Tool for Patient Registry Software Systems: The CIPROS Checklist

(2015) U. Mansmann et al.   METHODS OF INFORMATION IN MEDICINE

The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders

(2014) Barbara J Bailus et al.   BMC NEUROSCIENCE

Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis

(2013) Line Granild Bie Mertz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A modular approach to disease registry design: Successful adoption of an internet-based rare disease registry

(2012) Matthew I Bellgard et al.   HUMAN MUTATION

‘Puppet’ Children A Report on Three Cases

(2010) Harry Angelman   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IT Infrastructure Components for Biobanking

(2010) A. Beck et al.   Applied Clinical Informatics