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.
|Qualification||Doctor of Philosophy|
|Award date||7 Jun 2020|
|Publication status||Unpublished - 2019|
- Embargoed from 17/06/2020 to 30/06/2021. Will become publicly available on 30/06/2021.