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Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease |
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| Authors: | Arthavan Selvanathan C. Forwood J. Russell K. Batten S. Thompson E. E. Palmer R. Macintosh S. Nightingale R. Mitchell F. Alvaro T. Dudding-Byth S. Lunke J. Christodoulou Z. Stark F. White S. A. Jones K. Bhattacharya |
| Affiliation: | 1. Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia;2. Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia;3. Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia;4. Department of Nutrition and Dietetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Faculty of Medicine & Health, University of New South Wales, Sydney, New South Wales, Australia;5. Department of Nutrition and Dietetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia;6. Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Faculty of Medicine & Health, University of New South Wales, Sydney, New South Wales, Australia;7. Department of Gastroenterology, John Hunter Children's Hospital, Newcastle, New South Wales, Australia School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia;8. Faculty of Medicine & Health, University of New South Wales, Sydney, New South Wales, Australia Kids Cancer Centre, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia;9. School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia Children's Cancer and Haematology Service, John Hunter Children's Hospital, Newcastle, New South Wales, Australia;10. School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia NSW Genetics of Learning Disability (GOLD) Service, Hunter New England Health, Waratah, New South Wales, Australia;11. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia;12. Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia;13. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia Australian Genomics Health Alliance, Darlinghurst, New South Wales, Australia;14. Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK;15. Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia |
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