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Diagnostic NGS for Severe Neuromuscular Disorders Cover

Diagnostic NGS for Severe Neuromuscular Disorders

Open Access
|Dec 2015

References

  1. Todd EJ Yau KS Ong R Slee J McGillivray G Barnett CP Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth Orphanet J Rare Dis 2015 10 1 148 10.1186/s13023-015-0364-0 26578207
  2. Yang Y Muzny DM Reid JG Bainbridge MN Willis A Ward PA Clinical whole-exome sequencing for the diagnosis of mendelian disorders N Engl J Med 2013 Oct 369 16 1502 1511 10.1056/NEJMoa1306555 24088041
  3. Ankala A da Silva C Gualandi F Ferlini A Bean LJ Collins C A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield Ann Neurol 2015 Feb 77 2 206 214 10.1002/ana.24303 25380242
  4. Alazami AM Patel N Shamseldin HE Anazi S Al-Dosari MS Alzahrani F Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families Cell Reports 2015 Jan 10 2 148 161 10.1016/j.celrep.2014.12.015 25558065
Language: English
Page range: 82 - 82
Submitted on: Dec 1, 2015
Accepted on: Dec 12, 2015
Published on: Dec 17, 2015
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services

© 2015 Radhika Dhamija, Chelsea Chambers, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.