Diagnostic NGS for Severe Neuromuscular Disorders

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.

Detalles Bibliográficos
Autores principales: Dhamija, Radhika, Chambers, Chelsea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2015
Materias:
Neuromuscular Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747264/
https://www.ncbi.nlm.nih.gov/pubmed/26933539
http://dx.doi.org/10.15844/pedneurbriefs-29-11-1
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author Dhamija, Radhika
Chambers, Chelsea
author_facet Dhamija, Radhika
Chambers, Chelsea
author_sort Dhamija, Radhika
collection PubMed
description 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.
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spelling pubmed-47472642016-03-01 Diagnostic NGS for Severe Neuromuscular Disorders Dhamija, Radhika Chambers, Chelsea Pediatr Neurol Briefs Neuromuscular Disorders 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. Pediatric Neurology Briefs Publishers 2015-11 2015-12-17 /pmc/articles/PMC4747264/ /pubmed/26933539 http://dx.doi.org/10.15844/pedneurbriefs-29-11-1 Text en Copyright: © 2015 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Neuromuscular Disorders
Dhamija, Radhika
Chambers, Chelsea
Diagnostic NGS for Severe Neuromuscular Disorders
title Diagnostic NGS for Severe Neuromuscular Disorders
title_full Diagnostic NGS for Severe Neuromuscular Disorders
title_fullStr Diagnostic NGS for Severe Neuromuscular Disorders
title_full_unstemmed Diagnostic NGS for Severe Neuromuscular Disorders
title_short Diagnostic NGS for Severe Neuromuscular Disorders
title_sort diagnostic ngs for severe neuromuscular disorders
topic Neuromuscular Disorders
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747264/
https://www.ncbi.nlm.nih.gov/pubmed/26933539
http://dx.doi.org/10.15844/pedneurbriefs-29-11-1
work_keys_str_mv AT dhamijaradhika diagnosticngsforsevereneuromusculardisorders
AT chamberschelsea diagnosticngsforsevereneuromusculardisorders

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