Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies
Year: 2025
Type: article
Topic: Muscle Physiology and Disorders
Authors and affiliations:
raw_author_name: Dennis Yeow
raw_affiliation_strings: Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Andre LM Reis
raw_affiliation_strings: Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia;
Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia
raw_author_name: Igor Stevanovski
raw_affiliation_strings: Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia;
Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia
raw_author_name: Neysa Njo
raw_affiliation_strings: Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia;
Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia
raw_author_name: Laura I Rudaks
raw_affiliation_strings: Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Bianca R Grosz
raw_affiliation_strings: Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, NSW, Australia;
Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, NSW, Australia
raw_author_name: Joanne S Sy
raw_affiliation_strings: Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, NSW, Australia;
Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
raw_author_name: Leah Kemp
raw_affiliation_strings: Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia;
Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia
raw_author_name: Sanjog R Chintalaphani
raw_affiliation_strings: Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia;
Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia
raw_author_name: Michael Chin
raw_affiliation_strings: Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Marion Stoll
raw_affiliation_strings: Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Danqing Zhu
raw_affiliation_strings: Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Christina Liang
raw_affiliation_strings: Department of Neurology, Royal North Shore Hospital, Sydney, NSW, Australia;
Department of Neurology, Royal North Shore Hospital, Sydney, NSW, Australia
raw_author_name: Katrina Morris
raw_affiliation_strings: Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Andrew Hannaford
raw_affiliation_strings: Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Ehsan Shandiz
raw_affiliation_strings: Department of Neurology, Toowoomba Base Hospital, Toowoomba, QLD, Australia;
Department of Neurology, Toowoomba Base Hospital, Toowoomba, QLD, Australia
raw_author_name: Kate E Ahmad
raw_affiliation_strings: Department of Neurology, Royal North Shore Hospital, Sydney, NSW, Australia;
Department of Neurology, Royal North Shore Hospital, Sydney, NSW, Australia
raw_author_name: Shadi El-Wahsh
raw_affiliation_strings: Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Stephen W Reddel
raw_affiliation_strings: Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Robert Boland-Freitas
raw_affiliation_strings: Department of Neurology, Blacktown Hospital, Blacktown, NSW, Australia;
Department of Neurology, Blacktown Hospital, Blacktown, NSW, Australia
raw_author_name: Roula Ghaoui
raw_affiliation_strings: Department of Neurology, Royal Adelaide Hospital, Adelaide, SA, Australia;
Department of Neurology, Royal Adelaide Hospital, Adelaide, SA, Australia
raw_author_name: Stephanie Barnes
raw_affiliation_strings: Department of Neurology, Hornsby Ku-ring-gai Hospital, Sydney, NSW, Australia;
Department of Neurology, Hornsby Ku-ring-gai Hospital, Sydney, NSW, Australia
raw_author_name: Jonathan Sturm
raw_affiliation_strings: Central Coast Neurosciences Research, Tumbi Umbi, NSW, Australia;
Central Coast Neurosciences Research, Tumbi Umbi, NSW, Australia
raw_author_name: Anna Willard
raw_affiliation_strings: Department of Neuroscience, School of Translational Medicine, Alfred Health and Monash University, Melbourne, VIC, Australia;
Department of Neuroscience, School of Translational Medicine, Alfred Health and Monash University, Melbourne, VIC, Australia
raw_author_name: Mahi Jasinarachchi
raw_affiliation_strings: Department of Neurology and Neurological Research, St. Vincent's Hospital Melbourne, Melbourne, VIC, Australia;
Department of Neurology and Neurological Research, St. Vincent's Hospital Melbourne, Melbourne, VIC, Australia
raw_author_name: Simon Hawke
raw_affiliation_strings: Central West Neurology and Neurosurgery, Orange, NSW, Australia;
Central West Neurology and Neurosurgery, Orange, NSW, Australia
raw_author_name: Neil G Simon
raw_affiliation_strings: Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia;
Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia
raw_author_name: Lisa Worgan
raw_affiliation_strings: Clinical Genetics Service, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia;
Clinical Genetics Service, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
raw_author_name: David Manser
raw_affiliation_strings: Department of Genetic Medicine, Westmead Hospital, Sydney, NSW, Australia;
Department of Genetic Medicine, Westmead Hospital, Sydney, NSW, Australia
raw_author_name: Michel Tchan
raw_affiliation_strings: Department of Genetic Medicine, Westmead Hospital, Sydney, NSW, Australia;
Department of Genetic Medicine, Westmead Hospital, Sydney, NSW, Australia
raw_author_name: Neil C Griffith
raw_affiliation_strings: Department of Neurology, Liverpool Hospital, Sydney, NSW, Australia;
Department of Neurology, Liverpool Hospital, Sydney, NSW, Australia
raw_author_name: Ryan L Davis
raw_affiliation_strings: Neurogenetics Research Group, Kolling Institute, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia;
Neurogenetics Research Group, Kolling Institute, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia
raw_author_name: Michael C Fahey
raw_affiliation_strings: Department of Paediatrics, Monash University, Melbourne, VIC, Australia;
Department of Paediatrics, Monash University, Melbourne, VIC, Australia
raw_author_name: Carolyn M Sue
raw_affiliation_strings: Neurodegenerative Service, Princes of Wales Hospital & Neuroscience Research Australia, Sydney, NSW, Australia;
Neurodegenerative Service, Princes of Wales Hospital & Neuroscience Research Australia, Sydney, NSW, Australia
raw_author_name: Pamela A McCombe
raw_affiliation_strings: Neurology Department, Royal Brisbane & Women's Hospital, Brisbane, QLD, Australia
raw_author_name: Karl Ng
raw_affiliation_strings: Department of Neurology, Royal North Shore Hospital, Sydney, NSW, Australia;
Department of Neurology, Royal North Shore Hospital, Sydney, NSW, Australia
raw_author_name: Marina L Kennerson
raw_affiliation_strings: Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, NSW, Australia;
Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, NSW, Australia
raw_author_name: Pak Leng Cheong
raw_affiliation_strings: Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Kishore R Kumar
raw_affiliation_strings: Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia;
Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia
raw_author_name: Ira W Deveson
raw_affiliation_strings: Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia;
Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, NSW, Australia