Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Dineke Westra, Meyke I Schouten, Bas C Stunnenberg, Benno Kusters, Christiaan G J Saris, Corrie E Erasmus, Baziel G van Engelen, Saskia Bulk, Corien C Verschuuren-Bemelmans, E H Gerkes, Christa de Geus, P A van der Zwaag, Sophelia Chan, Brian Chung, Daniela Q C M Barge-Schaapveld, Marjolein Kriek, Yves Sznajer, Karin van Spaendonck-Zwarts, Anneke J van der Kooi, Amanda KrauseBitten Schönewolf-Greulich, Christine de Die-Smulders, Suzanne C E H Sallevelt, Ingrid P C Krapels, Magnhild Rasmussen, Isabelle Maystadt, Anneke J A Kievit, Nanna Witting, Maartje Pennings, Rowdy Meijer, Christian Gillissen, Erik-Jan Kamsteeg, Nicol C Voermans*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)241-258
Number of pages18
JournalJournal of neuromuscular diseases
Volume6
Issue number2
DOIs
Publication statusPublished - 2019

Keywords

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Neuromuscular Diseases/diagnosis
  • Whole Exome Sequencing/methods
  • Young Adult
  • Neuromuscular diseases
  • exome sequencing
  • genetics
  • myopathies
  • neurology

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