Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Health Alliance

Research output

Research output per year 2017 2018

• 2 Article

Research output per year

Research output per year

Search results

• 2018

  STRetch: Detecting and discovering pathogenic short tandem repeat expansions

  Dashnow, H., Lek, M., Phipson, B., Halman, A., Sadedin, S., Lonsdale, A., Davis, M., Lamont, P., Clayton, J. S., Laing, N. G., MacArthur, D. G. & Oshlack, A., 21 Aug 2018, In : Genome Biology. 19, 1, 121.

  Research output: Contribution to journal › Article

  Open Access

  • Microsatellite Repeats
  • genome
  • microsatellite repeats
  • loci
  • mutation
  30 Citations (Scopus)
• 2017

  Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

  Schofield, D., Alam, K., Douglas, L., Shrestha, R., MacArthur, D. G., Davis, M., Laing, N. G., Clarke, N. F., Burns, J., Cooper, S. T., North, K. N., Sandaradura, S. A. & O'Grady, G. L., 2017, In : Genome Medicine. 2

  Research output: Contribution to journal › Article

  Open Access

  • High-Throughput Nucleotide Sequencing
  • Neuromuscular Diseases
  • Whole Exome Sequencing
  • Cost-Benefit Analysis
  • Pediatrics
  39 Citations (Scopus)