Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

  • Tiong Yang Tan
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia3Department of Paediatrics, University of Melbourne, Melbourne, Australia
  • Oliver James Dillon
    Department of Paediatrics, University of Melbourne, Melbourne, Australia
  • Zornitza Stark
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia
  • Deborah Schofield
    Murdoch Childrens Research Institute, Melbourne, Australia4Faculty of Pharmacy, University of Sydney, Sydney, Australia5Garvan Institute of Medical Research, Sydney, Australia
  • Khurshid Alam
    Murdoch Childrens Research Institute, Melbourne, Australia3Department of Paediatrics, University of Melbourne, Melbourne, Australia
  • Rupendra Shrestha
    Faculty of Pharmacy, University of Sydney, Sydney, Australia
  • Belinda Chong
    Victorian Clinical Genetics Services, Melbourne, Australia
  • Dean Phelan
    Victorian Clinical Genetics Services, Melbourne, Australia
  • Gemma R. Brett
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia6Melbourne Genomics Health Alliance, Melbourne, Australia
  • Emma Creed
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia6Melbourne Genomics Health Alliance, Melbourne, Australia
  • Anna Jarmolowicz
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia6Melbourne Genomics Health Alliance, Melbourne, Australia
  • Patrick Yap
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia
  • Maie Walsh
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia
  • Lilian Downie
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia
  • David J. Amor
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia3Department of Paediatrics, University of Melbourne, Melbourne, Australia
  • Ravi Savarirayan
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia3Department of Paediatrics, University of Melbourne, Melbourne, Australia
  • George McGillivray
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia
  • Alison Yeung
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia
  • Heidi Peters
    Department of Paediatrics, University of Melbourne, Melbourne, Australia7The Royal Children’s Hospital, Melbourne, Australia
  • Susan J. Robertson
    Murdoch Childrens Research Institute, Melbourne, Australia7The Royal Children’s Hospital, Melbourne, Australia
  • Aaron J. Robinson
    The Royal Children’s Hospital, Melbourne, Australia
  • Ivan Macciocca
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia
  • Simon Sadedin
    Murdoch Childrens Research Institute, Melbourne, Australia
  • Katrina Bell
    Murdoch Childrens Research Institute, Melbourne, Australia
  • Alicia Oshlack
    Murdoch Childrens Research Institute, Melbourne, Australia3Department of Paediatrics, University of Melbourne, Melbourne, Australia
  • Peter Georgeson
    Walter and Eliza Hall Institute, Melbourne, Australia
  • Natalie Thorne
    Walter and Eliza Hall Institute, Melbourne, Australia
  • Clara Gaff
    Department of Paediatrics, University of Melbourne, Melbourne, Australia6Melbourne Genomics Health Alliance, Melbourne, Australia8Walter and Eliza Hall Institute, Melbourne, Australia
  • Susan M. White
    Victorian Clinical Genetics Services, Melbourne, Australia2Murdoch Childrens Research Institute, Melbourne, Australia3Department of Paediatrics, University of Melbourne, Melbourne, Australia

収録刊行物

  • JAMA Pediatrics

    JAMA Pediatrics 171 (9), 855-, 2017-09-01

    American Medical Association (AMA)

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