title: Diagnostic NGS for Severe Neuromuscular Disorders.
abstract: Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted capture of 277 neuromuscular genes) in a heterogenous cohort of patients with neuromuscular disorders (NMD) presenting at or before birth.
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, University of Virginia, Charlottesville, VA.
authors.forename: Radhika
authors.initials: R
authors.lastname: Dhamija
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, University of Virginia, Charlottesville, VA.
authors.forename: Chelsea
authors.initials: C
authors.lastname: Chambers
keywords: Neuromuscular Disorders; Next-Generation-Sequencing; Novel Genes