Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Reference8 articles.
1. Chae JH, Vasta V, Cho A, et al. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. J Med Genet. 2015;52:208–16.
2. Todd EJ, Yau KS, Ong R, et al. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. Orphanet J Rare Dis. 2015;10:148.
3. Bainbridge MN, Wiszniewski W, Murdock DR, et al. Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011;3 87re3.
4. Bhowmik AD, Dalal AB, Matta D, Sundaram C, Aggarwal S. Targeted next generation sequencing identifies a novel deletion in LAMA2 gene in a merosin deficient congenital muscular dystrophy patient. Indian J Pediatr. 2015. doi: 10.1007/s12098-015-1822-3 .
5. Delio M, Patel K, Maslov A, et al. Development of a targeted multi-disorder high-throughput sequencing assay for the effective identification of disease-causing variants. PLoS ONE. 2015;10:e0133742.
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