Gene discovery and diagnosis using classical and new genetic tools

Research output: ThesisDoctoral Thesis

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Neuromuscular diseases are a broad range of heritable diseases which impair voluntary movement. Although the diseases are individually rare, they collectively produce a large disease burden, and accurate diagnosis is challenging. Despite major breakthroughs, a considerable percentage of patients cannot be diagnosed, representing an unmet need in healthcare. I combined next-generation sequencing with classical methods to investigate neuromuscular disease genetics, and improve genetic diagnosis.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
  • Laing, Nigel, Supervisor
  • Ravenscroft, Gina, Supervisor
  • McLean, Catriona A., Supervisor, External person
  • Davis, Mark, Supervisor
Thesis sponsors
Award date7 Jun 2020
Publication statusUnpublished - 2019

Embargo information

  • Embargoed from 17/06/2020 to 30/06/2021. Will become publicly available on 30/06/2021.


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