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Open Access
Peer-reviewed
Research Article
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
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Megan H. Brewer ,
* E-mail: m.brewer@sydney.edu.au
Affiliations Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia, Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia
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Rabia Chaudhry,
Affiliations Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia, Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia
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Jessica Qi,
Affiliations Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia, Discipline of Pathology, University of Sydney, Camperdown, New South Wales, Australia
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Aditi Kidambi,
Affiliation Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia
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Alexander P. Drew,
Affiliation Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia
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Manoj P. Menezes,
Affiliations The Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Westmead, New South Wales, Australia, T.Y. Nelson Department of Neurology and Neurosurgery, The Children’s Hospital at Westmead, Westmead, New South Wales, Australia, Paediatrics and Child Health, University of Sydney, Camperdown, New South Wales, Australia
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Monique M. Ryan,
Affiliations Department of Neurology, Royal Children’s Hospital, Parkville, Victoria, Australia, Murdoch Childrens Research Institute, Parkville, Victoria, Australia, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
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Michelle A. Farrar,
Affiliations Department of Neurology, Sydney Children’s Hospital, Randwick, New South Wales, Australia, School of Women’s and Children’s Health, UNSW Medicine, University of New South Wales, Kensington, New South Wales, Australia
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David Mowat,
Affiliations School of Women’s and Children’s Health, UNSW Medicine, University of New South Wales, Kensington, New South Wales, Australia, Department of Medical Genetics, Sydney Children’s Hospital, Randwick, New South Wales, Australia
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Gopinath M. Subramanian,
Affiliation Department of Paediatrics, John Hunter Children’s Hospital, Newcastle, New South Wales, Australia
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Helen K. Young,
Affiliations Department of Paediatrics, Royal North Shore Hospital, St Leonards, New South Wales, Australia, Northern Clinical School, Sydney Medical School, University of Sydney, St Leonards, New South Wales, Australia, Department of Neurogenetics, The Children’s Hospital at Westmead, Westmead, New South Wales, Australia
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Stephan Zuchner,
Affiliations John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America, Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
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Stephen W. Reddel,
Affiliation Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia
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Garth A. Nicholson,
Affiliations Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia, Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia, Molecular Medicine, Concord Repatriation General Hospital, Concord, New South Wales, Australia
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Marina L. Kennerson
Affiliations Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia, Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia, Molecular Medicine, Concord Repatriation General Hospital, Concord, New South Wales, Australia
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Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
- Megan H. Brewer,
- Rabia Chaudhry,
- Jessica Qi,
- Aditi Kidambi,
- Alexander P. Drew,
- Manoj P. Menezes,
- Monique M. Ryan,
- Michelle A. Farrar,
- David Mowat,
- Gopinath M. Subramanian
- Published: July 20, 2016
- https://doi.org/10.1371/journal.pgen.1006177