Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes

Author:

Bellgard Matthew I.,Sleeman Mark W.,Guerrero Felix D.,Fletcher Sue,Baynam Gareth,Goldblatt Jack,Rubinstein Yaffa,Bell Callum,Groft Stephen,Barrero Roberto,Bittles Alan H.,Wilton Stephen D.,Mason Christopher E.,Weeramanthri Tarun

Funder

Australian National Health and Medical Research Council

Publisher

Elsevier BV

Subject

Health Policy,Biomedical Engineering

Reference53 articles.

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2. Creating a global rare disease patient registry linked to a rare diseases biorepository database: rare disease-HUB (RD-HUB);Rubinstein;Contemp Clin Trials,2010

3. The case for a global rare-diseases registry;Forrest;Lancet,2011

4. A modular approach to disease registry design: successful adoption of an internet-based rare disease registry;Bellgard;Hum Mutat,2012

5. The New Zealand neuromuscular disease registry;Rodrigues;J Clin Neurosci: Off J Neurosurg Soc Australasia,2012

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