The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

Author:

Baynam Gareth,Pachter Nicholas,McKenzie Fiona,Townshend Sharon,Slee Jennie,Kiraly-Borri Cathy,Vasudevan Anand,Hawkins Anne,Broley Stephanie,Schofield Lyn,Verhoef Hedwig,Walker Caroline E.,Molster Caron,Blackwell Jenefer M.,Jamieson Sarra,Tang Dave,Lassmann Timo,Mina Kym,Beilby John,Davis Mark,Laing Nigel,Murphy Lesley,Weeramanthri Tarun,Dawkins Hugh,Goldblatt Jack

Funder

Raine Clinical Research Fellowship

Australian Medical Research Council Fellowship

Centre for Research Excellence Grant

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference15 articles.

1. Ayme S, Rodwell C., eds. 2013 Report on the state of the art of rare disease activities in Europe. EUCERD, 2013

2. European Organisation for Rare Diseases. Rare Diseases: understanding this public health priority. EURORDIS, 2005.

3. Remuzzi G, Garattini S. Rare diseases: what's next? Lancet (London, England). 2008;371(9629):1978–9.

4. Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet (London, England. 2008;371(9629):2039–41.

5. European Organisation for Rare Diseases. Survey of the delay in diagnosis for 8 rare diseases in Europe (EurordisCare2). EURORDIS Fact sheets, 2007.

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