Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease

Affiliations

• 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 Department of Nutrition and Dietetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.
• ⁴ Faculty of Medicine & Health, University of New South Wales, Sydney, New South Wales, Australia.
• ⁵ Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia.
• ⁶ Department of Gastroenterology, John Hunter Children's Hospital, Newcastle, New South Wales, Australia.
• ⁷ School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia.
• ⁸ Kids Cancer Centre, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.
• ⁹ Children's Cancer and Haematology Service, John Hunter Children's Hospital, Newcastle, New South Wales, Australia.
• ¹⁰ 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.
• ¹² Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
• ¹³ 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.