Around 700 genes are associated with >1,200 neuromuscular diseases (Neuromuscular Disorders Gene Table), including myopathies, dystrophies, neuropathies, hereditary spastic paraplegias and ataxias. Nevertheless, comprehensive gene panel or clinical exome testing fails to identify a precise molecular diagnosis in >50% of individuals. Since the introduction of massively parallel sequencing the Perth team have identified and characterised >30 neuromuscular disease genes, including STR repeat expansion disorders. The recent identification of MAMDC2-related myopathy uncovers for the first time a role of this poorly-characterised protein in skeletal muscle biology and highlights the power of rare diseases to uncover new biological insights. A similar number of genotype-phenotype expansions have been identified for known disease genes, most recently we described tubulin-related myopathies associated with variants in TUBA4A. With long-read sequencing, optical genome mapping and RNA-seq we have also identified complex structural variants, in many instances these approaches have ended decades-long diagnostic odysseys. It is likely that complex SVs will increasingly contribute to the molecular diagnosis of patients with neuromuscular and other rare diseases. Collaborations across the research and diagnostic divide have been critical to the success in both arenas and for achieving a timely molecular diagnosis in Australasian patients with rare neuromuscular diseases.