Initiating an undiagnosed diseases program in the Western Australian public health system-Reference-Cited by-同舟云学术

Initiating an undiagnosed diseases program in the Western Australian public health system

Published:2017-05-03 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Baynam Gareth,Broley Stephanie,Bauskis Alicia,Pachter Nicholas,McKenzie Fiona,Townshend Sharron,Slee Jennie,Kiraly-Borri Cathy,Vasudevan Anand,Hawkins Anne,Schofield Lyn,Helmholz Petra,Palmer Richard,Kung Stefanie,Walker Caroline E.,Molster Caron,Lewis Barry,Mina Kym,Beilby John,Pathak Gargi,Poulton Cathryn,Groza Tudor,Zankl Andreas,Roscioli Tony,Dinger Marcel E.,Mattick John S.,Gahl William,Groft Stephen,Tifft Cynthia,Taruscio Domenica,Lasko Paul,Kosaki Kenjiro,Wilhelm Helene,Melegh Bela,Carapetis Jonathan,Jana Sayanta,Chaney Gervase,Johns Allison,Owen Peter Wynn,Daly Frank,Weeramanthri Tarun,Dawkins Hugh,Goldblatt Jack

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0619-z.pdf

Reference18 articles.

1. Tifft CJ, Adams DR. The National Institutes of Health undiagnosed diseases program. Curr Opin Pediatr. 2014;26(6):626–33.

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

3. Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, et al. Survey of healthcare experiences of Australians living with rare diseases. Orphanet J Rare Dis. 2016;11:30.

4. Taruscio D, Groft SC, Cederroth H, Melegh B, Lasko P, Kosaki K, et al. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. Mol Genet Metab. 2015;116(4):223–5.

5. Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, et al. The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service. Orphanet J Rare Dis. 2016;11(1):77.

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