Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases-Reference-Cited by-同舟云学术

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Published:2017-03-03 Issue:1 Volume:2 Page:
ISSN:2056-7944
Container-title:npj Genomic Medicine
language:en
Short-container-title:npj Genomic Med

Author:

Schofield Deborah,Alam Khurshid,Douglas Lyndal,Shrestha Rupendra^ORCID,MacArthur Daniel G.,Davis Mark,Laing Nigel G.,Clarke Nigel F.,Burns Joshua,Cooper Sandra T.,North Kathryn N.,Sandaradura Sarah A.,O’Grady Gina L.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/s41525-017-0006-7.pdf

Reference10 articles.

1. Chae, J. H. et al. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. J. Med. Genet. 52, 208–216 (2015).

2. O’Grady, G. L. et al. Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there. Annals Neurol. 80, 101–111, doi: 10.1002/ana.24687 (2016).

3. Tian, X., Liang, W. C., Feng, Y., Wang, J. & Zhang, V. W. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol. Genet. 1, e14, doi: 10.1212/NXG.0000000000000015 (2015).

4. Todd, E. J. et al. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. Orphanet. J. Rare Dis. 10, 148 (2015).

5. Ilkovski, B. et al. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol (GPI) deficiencies. Hum. Mol. Genet. 24, 6146–6159 (2015).

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