1. Murdoch Children’s Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia
2. Department of Paediatrics, University of Melbourne , Melbourne, VIC 3010 , Australia
3. Department of Biochemistry and Pharmacology , Bio21 Molecular Science and Biotechnology Institute, , Parkville, VIC 3010 , Australia
4. University of Melbourne , Bio21 Molecular Science and Biotechnology Institute, , Parkville, VIC 3010 , Australia
5. Department of Genetics, Yale School of Medicine , New Haven, CT 06510 USA
6. Broad Institute , Cambridge, MA 02142 , USA
7. Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital , Boston, MA 02114 , USA
8. Department of Systems Biology, Harvard Medical School , Boston, MA 02446 , USA
9. Department of Genetics, Copenhagen University Hospital Rigshospitalet , Copenhagen 2100 , Denmark
10. Center for Inherited Metabolic Disease , Department of Pediatrics and Adolescent Medicine, , Copenhagen 2100 , Denmark
11. Copenhagen University Hospital Rigshospitalet , Department of Pediatrics and Adolescent Medicine, , Copenhagen 2100 , Denmark
12. Monash Genetics, Monash Health , Melbourne, VIC 3168 Australia
13. Department of Paediatrics, Monash University , Melbourne, VIC 3168 Australia
14. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute , Melbourne, VIC 3052 , Australia
15. Australian Genomics Health Alliance , Melbourne, VIC 3052 , Australia
16. Department of Pathology, University of Melbourne , Melbourne, VIC 3010 , Australia
17. Department of Clinical Medicine, University of Copenhagen , Copenhagen 2200 , Denmark
18. Discipline of Child & Adolescent Health , Sydney Medical School, , Sydney, NSW 2006 , Australia
19. University of Sydney , Sydney Medical School, , Sydney, NSW 2006 , Australia