Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Lisa Ewans(Garvan Institute of Medical Research), Tony Roscioli(New South Wales Department of Health), Kevin Ying(Garvan Institute of Medical Research), Eric Lee(Microsoft (United States)), Carolyn Ellaway(The University of Sydney), Michelle Lipke(Sydney Children's Hospital), David Mowat(New South Wales Department of Health), Michael Field(Hunter Genetics), Rani Sachdev(Victorian Clinical Genetics Services), Edwin P. Kirk(The University of Sydney), Marcel E. Dinger(The University of Sydney), Lisa Worgan(Liverpool Hospital), Velimir Gayevskiy(Rancho BioSciences (United States)), Deborah Schofield(The University of Sydney), Mark J. Cowley(Garvan Institute of Medical Research), David T. Miller(Boston Children's Hospital), Rupendra Shrestha(Macquarie University), Ying Zhu(ZheJiang Academy of Agricultural Sciences), Alison Colley(Liverpool Hospital), Michael F. Buckley(New South Wales Department of Health), Mary‐Louise Freckmann(Canberra Hospital), Anne Turner(Medical Research Institute of New Zealand), Corrina Walsh(Prince of Wales Hospital)
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