1. Institute for Neuroscience and Muscle Research; The Children's Hospital at Westmead; Sydney New South Wales Australia
2. Discipline of Paediatrics and Child Health; University of Sydney; Sydney New South Wales Australia
3. Department of Clinical Genetics; Children's Hospital at Westmead; Sydney New South Wales Australia
4. Analytic and Translational Genetics Unit; Massachusetts General Hospital; Boston Massachusetts
5. Broad Institute of Harvard and Massachusetts Institute of Technology; Cambridge Massachusetts
6. Department of Neurology; Children's Hospital at Westmead; Sydney New South Wales Australia
7. Sydney Genome Diagnostics; Children's Hospital at Westmead; Sydney New South Wales Australia
8. Centre for Cancer Research; Hudson Institute of Medical Research, Clayton, Victoria, Australia
9. Department of Molecular and Translational Science, Monash University; Clayton Victoria Australia
10. Murdoch Children's Research Institute; Melbourne Victoria Australia
11. Department of Paediatrics; Faculty of Medicine; University of Melbourne; Melbourne Victoria Australia
12. Electron Microscope Unit; Concord Repatriation General Hospital; Sydney New South Wales Australia
13. Department of Anatomical Pathology; Middlemore Hospital; Auckland New Zealand
14. Department of Diagnostic Genomics; PathWest Laboratory Medicine; QEII Medical Centre; Perth Western Australia Australia
15. Centre for Medical Research University of Western Australia; Harry Perkins Institute of Medical Research; Perth Western Australia Australia