Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

Kerith‐Rae Dias(Queen Mary University of London), Janice M. Fletcher(Prince of Wales Hospital), Igor Stevanovski(Garvan Institute of Medical Research), Louise Carey(Prince of Wales Hospital), Corrina Cliffe(New South Wales Department of Health), Lesley C. Adès(The University of Sydney), Sarah A. Sandaradura(Children's Hospital at Westmead), Andrew Fennell(Monash Health), Benjamin Kamien(Services Australia), Alan Ma(The University of Sydney), Christopher Lucas(Prince of Wales Hospital), Melissa Rapadas(Garvan Institute of Medical Research), Natasha J. Brown(New South Wales Department of Health), David Mowat(New South Wales Department of Health), Futao Zhang, Madhura Bakshi(Liverpool Hospital), Edwin P. Kirk(The University of Sydney), Jennifer Kerkhof(London Health Sciences Centre), Hugh J. French(Royal Prince Alfred Hospital), Tiong Yang Tan(Royal Children's Hospital), Lauren Akesson(Royal Children's Hospital), Janine Smith(Children's Hospital at Westmead), Michael E. Talkowski(Broad Institute), Carey‐Anne Evans(New South Wales Department of Health), Ben Weisburd(MACOM (United States)), Susan M. White(The University of Melbourne), Tracy Dudding‐Byth(Hunter Genetics), Zornitza Stark(Zoos Victoria), Tiffany Boughtwood(Murdoch Children's Research Institute), Matthew F. Hunter(The University of Sydney), Deborah Schofield(The University of Sydney), Emily O’Heir(MACOM (United States)), Alison Yeung(Murdoch Children's Research Institute), Alba Sanchis‐Juan(University Medical Center Groningen), Ira W. Deveson(Garvan Institute of Medical Research), George McGillivray(Murdoch Children's Research Institute), George Elakis(New South Wales Department of Health), Emma Krzesinski(The University of Melbourne), Lisa Ewans(Garvan Institute of Medical Research), Sarah L. Stenton(Broad Institute), Rupendra Shrestha(Macquarie University), Luis A. Pérez‐Jurado(Instituto de Salud Carlos III), Meredith Wilson(Children's Hospital at Westmead), Krystle Standen(Prince of Wales Hospital), Ying Zhu(ZheJiang Academy of Agricultural Sciences), Anne Turner(Medical Research Institute of New Zealand), Matthew Regan(Monash Children’s Hospital), Ravi Savarirayan(Royal Children's Hospital), Sondy Ghedia(Royal North Shore Hospital), Harrison Brand(Broad Institute)
Genetics in Medicine
January 19, 2024
Cited by 9


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