Zobrazeno 1 - 10
of 1 498
pro vyhledávání: '"Ellaway C"'
Autor:
Rius R; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia; The University of Melbourne, Melbourne, Australia., Compton AG; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia., Baker NL; The University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia., Balasubramaniam S; Sydney Children's Hospitals Network, Westmead, Australia; University of Sydney, Sydney, NSW, Australia., Best S; The University of Melbourne, Melbourne, Australia; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia; Victorian Comprehensive Cancer Centre, Melbourne, VIC, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Bhattacharya K; Sydney Children's Hospitals Network, Westmead, Australia., Boggs K; Sydney Children's Hospitals Network, Westmead, Australia., Boughtwood T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Braithwaite J; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia., Bratkovic D; Women's and Children's Hospital, Adelaide, Australia., Bray A; Sydney Children's Hospitals Network, Westmead, Australia., Brion MJ; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; QIMR Berghofer Medical Research Institute, Brisbane, Australia., Burke J; Tasmanian Clinical Genetics Service, Hobart, Australia; The University of Tasmania, Hobart, Australia., Casauria S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Chong B; Victorian Clinical Genetics Services, Melbourne, Australia., Coman D; Queensland Children's Hospital, Brisbane, Australia; Wesley Hospital, Brisbane, Australia; University of Queensland, Brisbane, Australia., Cowie S; Victorian Clinical Genetics Services, Melbourne, Australia., Cowley M; Children's Cancer Institute, University of New South Wales, NSW, Australia., de Silva MG; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia., Delatycki MB; The University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia., Edwards S; Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia., Ellaway C; Sydney Children's Hospitals Network, Westmead, Australia; University of Sydney, Sydney Australia., Fahey MC; Royal Melbourne Hospital, Melbourne, VIC, Australia., Finlay K; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Fletcher J; Royal Adelaide Hospital, Adelaide, Australia., Frajman LE; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia., Frazier AE; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia., Gayevskiy V; Garvan Institute of Medical Research, Sydney, NSW, Australia., Ghaoui R; Royal Adelaide Hospital, Adelaide, Australia., Goel H; John Hunter Hospital, Newcastle, Australia., Goranitis I; The University of Melbourne, Melbourne, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Haas M; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Hock DH; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia; Bio 21 Molecular Science and Biotechnology Institute, Melbourne, Australia., Howting D; Harry Perkins Institute of Medical Research, Perth, Australia., Jackson MR; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Kava MP; Perth Children's Hospital, Perth, Australia., Kemp M; The Australian e-Health Research Centre, CSIRO, Australia., King-Smith S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Lake NJ; Murdoch Children's Research Institute, Melbourne, Australia; Yale School of Medicine, New Haven, CT, USA., Lamont PJ; Perth Children's Hospital, Perth, Australia; Royal Perth Hospital, Perth, Australia., Lee J; The University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia; Royal Children's Hospital, Melbourne, Australia., Long JC; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia., MacShane M; Harry Perkins Institute of Medical Research, Perth, Australia., Madelli EO; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Martin EM; Sydney Children's Hospitals Network, Westmead, Australia., Marum JE; Victorian Clinical Genetics Services, Melbourne, Australia; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia., Mattiske T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., McGill J; Queensland Children's Hospital, Brisbane, Australia., Metke A; The Australian e-Health Research Centre, CSIRO, Australia., Murray S; Mito Foundation, Sydney, Australia., Panetta J; Royal Melbourne Hospital, Melbourne, Australia., Phillips LK; Mater Hospital, South Brisbane, Australia., Quinn MCJ; Australian Genomics, Genetic Health Queensland, Brisbane, Australia., Ryan MT; Monash University, Melbourne, Australia., Schenscher S; Women's and Children's Hospital, Adelaide, Australia., Simons C; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia., Smith N; Department of Neurology and Clinical Neurophysiology, Women's and Children's Hospital, Adelaide, South Australia, Australia; Discipline of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia., Stroud DA; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia; Bio 21 Molecular Science and Biotechnology Institute, Melbourne, Australia., Tchan MC; Faculty of Medicine and Health, University of Sydney, Australia; Department of Genetic Medicine, Westmead Hospital, Westmead, Australia., Tom M; Genetic Health Queensland, Brisbane, Australia., Wallis M; Tasmanian Clinical Genetics Service, Hobart, Australia; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia; Royal Hobart Hospital, Hobart, Australia., Ware TL; Royal Hobart Hospital, Hobart, Australia., Welch AE; Murdoch Children's Research Institute, Melbourne, Australia., Wools C; Royal Melbourne Hospital, Melbourne, Australia., Wu Y; The University of Melbourne, Melbourne, Australia., Christodoulou J; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia. Electronic address: john.christodoulou@mcri.edu.au., Thorburn DR; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia. Electronic address: david.thorburn@mcri.edu.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 17, pp. 101271. Date of Electronic Publication: 2024 Sep 17.
Autor:
Guffon N; Reference Centre for Inherited Metabolic Diseases (CERLYMM), Hospices Civils of Lyon (HCL), Lyon, France. Electronic address: nathalie.guffon-fouilhoux@chu-lyon.fr., Burton BK; Northwestern University and Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Ficicioglu C; Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital, Prague, Czech Republic., Gil-Campos M; Reina Sofía University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, Spanish Network for Research of Excellence in Obesity (CIBEROBN), Córdoba, Spain., Lopez-Rodriguez MA; Hospital Universitario Ramón Y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain., Jayakar P; Nicklaus Children's Hospital, Miami, FL, USA., Lund AM; Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Rigshospitalet, and Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Tal G; Metabolic Clinic and Pediatric Department 'B', Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Garcia-Ortiz JE; Division of Genetics, Centro de Investigación Biomédica de Occidente (CIBO) del Instituto Mexicano de Seguro Social (IMSS), Guadalajara, Mexico., Stepien KM; Adult Inherited Metabolic Diseases, Northern Care Alliance National Health Service (NHS) Foundation Trust, Salford Royal Organization, Salford, UK., Ellaway C; Sydney Children's Hospital Network, Sydney, Australia., Al-Hertani W; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Giugliani R; Federal University of Rio Grande do Sul (UFRGS), Hospital de Clinicas de Porto Alegre (HCPA), National Institute of Population Medical Genetics (INAGEMP), Diagnósticos da América S.A. (DASA) and Center for Comprehensive Care and Training in Rare Diseases (CASA DOS RAROS), Porto Alegre, Brazil., Cathey SS; Greenwood Genetic Center, Greenwood, SC, USA., Hennermann JB; Villa Metabolica, University Medical Center Mainz, Mainz, Germany., Lampe C; Center for Pediatric Neurology, Muscular Diseases and Social Pediatrics, Giessen University Hospital, Giessen, Germany., McNutt M; The University of Texas Southwestern Medical Center, Dallas, TX, USA., Lagler FB; Institute for Inherited Metabolic Diseases & Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria., Scarpa M; Regional Coordinating Center for Rare Diseases, University Hospital Udine, Italy., Sutton VR; Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA., Muschol N; International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: muschol@uke.de.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108519. Date of Electronic Publication: 2024 Jun 23.
Autor:
Nicholls K; Department of Nephrology, Royal Melbourne Hospital, Melbourne, Victoria, Australia.; Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia., Denaro C; Department of Internal Medicine and Aged Care, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Academy of Medicine, University of Queensland, Brisbane, Queensland, Australia., Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Ellaway C; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, New South Wales, Australia., Bratkovic D; Department of Internal Medicine and Aged Care, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Campbell S; Fabry Australia, Echuca, Victoria, Australia., Fookes M; Fabry Australia, Sydney, New South Wales, Australia., Thomas M; Department of Nephrology, Royal Perth Hospital, Perth, Western Australia, Australia.
Publikováno v:
Internal medicine journal [Intern Med J] 2024 Jun; Vol. 54 (6), pp. 882-890. Date of Electronic Publication: 2024 Jan 11.
Autor:
Aldrian D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Waldner B; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., El-Gharbawy AH; Division of Medical Genetics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., McKiernan P; Department of Pediatrics, University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Vockley J; Department of Pediatrics, University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Landau YE; Metabolic Disease Unit, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Al Mutairi F; Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City MNG-HA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia., Stepien KM; Adult Inherited Metabolic Diseases, Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, Salford, Greater Manchester, UK., Kwok AM; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong., Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Honzik T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital in Prague, Prague, Czech Republic., Kelifova S; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital in Prague, Prague, Czech Republic., Ellaway C; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, Australia., Lund AM; Departments of Clinical Genetics and Pediatrics, Center for Inherited Metabolic Diseases, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Mori M; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany., Scholl-Bürgi S; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Zöggeler T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Oberhuber R; Department of Visceral, Transplant and Thoracic Surgery, Center of Operative Medicine, Medical University of Innsbruck, Innsbruck, Austria., Schneeberger S; Department of Visceral, Transplant and Thoracic Surgery, Center of Operative Medicine, Medical University of Innsbruck, Innsbruck, Austria., Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Karall D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 220-229. Date of Electronic Publication: 2024 Feb 20.
Autor:
Djafar JV; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, Sydney, Australia., Smith NJ; Department of Neurology and Clinical Neurophysiology, Women's and Children's Health Network, Adelaide, Australia; Discipline of Paediatrics, School of Medicine, The University of Adelaide, Adelaide, Australia., Johnson AM; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, Sydney, Australia; Department of Neurology, Sydney Children's Hospital Network, Sydney, Australia., Bhattacharya K; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, Australia., Ardern-Holmes SL; Department of Neurology, Sydney Children's Hospital Network, Sydney, Australia., Ellaway C; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, Australia., Dale RC; Department of Neurology, Sydney Children's Hospital Network, Sydney, Australia., D'Silva AM; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, Sydney, Australia., Kariyawasam DS; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, Sydney, Australia; Department of Neurology, Sydney Children's Hospital Network, Sydney, Australia., Grattan S; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, Sydney, Australia., Kandula T; Department of Neurology, Sydney Children's Hospital Network, Sydney, Australia., Lewis K; Department of Neurology, Sydney Children's Hospital Network, Sydney, Australia., Mohammed SS; Department of Neurology, Sydney Children's Hospital Network, Sydney, Australia., Farrar MA; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, Sydney, Australia; Department of Neurology, Sydney Children's Hospital Network, Sydney, Australia. Electronic address: m.farrar@unsw.edu.au.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2023 Dec; Vol. 149, pp. 75-83. Date of Electronic Publication: 2023 Sep 21.
Autor:
Vilvarajan S; Faculty of Medicine, Sydney University, Sydney, NSW 2006, Australia., McDonald M; Faculty of Medicine, Sydney University, Sydney, NSW 2006, Australia., Douglas L; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Newham J; Department of Physiotherapy, Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Kirkland R; Department of Occupational Therapy, Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Tzannes G; Department of Speech Pathology, Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Tay D; Department of Dentistry, Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Christodoulou J; Discipline of Child and Adolescent Health, The University of Sydney, Sydney, NSW 2006, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Thompson S; Faculty of Medicine, Sydney University, Sydney, NSW 2006, Australia.; Genetic Metabolic Disorders Service, Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Ellaway C; Faculty of Medicine, Sydney University, Sydney, NSW 2006, Australia.; Discipline of Child and Adolescent Health, The University of Sydney, Sydney, NSW 2006, Australia.; Genetic Metabolic Disorders Service, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Publikováno v:
Genes [Genes (Basel)] 2023 Aug 11; Vol. 14 (8). Date of Electronic Publication: 2023 Aug 11.
Autor:
Coupe S; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia., Hertzog A; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.; Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia., Foran C; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia., Tolun AA; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.; Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia., Suthern M; Paediatric Department Wagga Wagga Base Hospital Wagga Wagga New South Wales Australia.; Rural Clinical School, Faculty of Medicine and Health University of New South Wales Wagga Wagga New South Wales Australia., Chung CWT; Department of Clinical Genetics Liverpool Hospital Liverpool New South Wales Australia.; School of Women's and Children's Health University of New South Wales Sydney New South Wales Australia., Ellaway C; Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.; Genetic Metabolic Disorders Service The Children's Hospital at Westmead Westmead New South Wales Australia.
Publikováno v:
Clinical case reports [Clin Case Rep] 2023 Feb 19; Vol. 11 (2), pp. e6920. Date of Electronic Publication: 2023 Feb 19 (Print Publication: 2023).
Autor:
Giudice-Nairn P; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Downs J; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.; School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia., Wong K; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Wilson D; Leading Steps Paediatric Clinic, Gold Coast, Queensland, Australia., Ta D; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Gattas M; Wesley Medical Centre, Brisbane, Queensland, Australia., Amor D; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Thompson E; SA Clinical Genetics Service, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia., Kirrali-Borri C; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, New South Wales, Australia., Ellaway C; Genetic Medicine, and Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia., Leonard H; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
Publikováno v:
Journal of paediatrics and child health [J Paediatr Child Health] 2019 Nov; Vol. 55 (11), pp. 1315-1322. Date of Electronic Publication: 2019 Feb 12.
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Autor:
Ewans LJ; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. lisa.ewans@gmail.com.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. lisa.ewans@gmail.com.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. lisa.ewans@gmail.com., Minoche AE; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Schofield D; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Shrestha R; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Puttick C; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Zhu Y; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Drew A; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Elakis G; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Walsh C; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Adès LC; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Colley A; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Ellaway C; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Evans CA; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia., Freckmann ML; Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia., Goodwin L; Genetics Services, Nepean Hospital, Sydney, NSW, Australia., Hackett A; The Genetics of Learning Disability Service, Newcastle, NSW, Australia., Kamien B; Hunter Genetics, Newcastle, NSW, Australia., Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Lipke M; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Queensland Children's Hospital, Brisbane, QLD, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Palmer E; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Rajagopalan S; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Ronan A; Hunter Genetics, Newcastle, NSW, Australia., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Stevenson W; Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Worgan L; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Morel-Kopp MC; Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia., Field M; The Genetics of Learning Disability Service, Newcastle, NSW, Australia., Buckley MF; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Cowley MJ; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Dinger ME; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. m.dinger@unsw.edu.au.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia. m.dinger@unsw.edu.au., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia. tony.roscioli@health.nsw.gov.au.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Oct; Vol. 30 (10), pp. 1121-1131. Date of Electronic Publication: 2022 Aug 15.
Autor:
Mitchell JJ; McGill University Health Centre, Montreal, Quebec, Canada. Electronic address: John.mitchell@muhc.mcgill.ca., Burton BK; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. Electronic address: bburton@luriechildrens.org., Bober MB; Nemours/Alfred I. DuPont Hospital for Children, Wilmington, DE, USA. Electronic address: michael.bober@nemours.org., Campeau PM; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada. Electronic address: p.campeau@umontreal.ca., Cohen S; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: shelda.cohen@bmrn.com., Dosenovic S; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: sara.dosenovic@bmrn.com., Ellaway C; Sydney Children's Hospital Network, Sydney, NSW, Australia. Electronic address: carolyn.ellaway@health.nsw.gov.au., Bhattacharya K; Sydney Children's Hospital Network, Sydney, NSW, Australia. Electronic address: kaustuv.bhattacharya@health.nsw.gov.au., Guffon N; Reference Centre of Inherited Metabolic Disease, HCL Hospital, Lyon, France. Electronic address: nathalie.guffon-fouilhoux@chu-lyon.fr., Hinds D; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: David.Hinds@bmrn.com., Lail A; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: alice.lail@bmrn.com., Lin SP; MacKay Children's Hospital, Taipei, Taiwan., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. Electronic address: martin.magner@vfn.cz., Raiman J; Birmingham Children's Hospital, Birmingham, UK. Electronic address: julian.raiman@nhs.net., Schwartz-Sagi L; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: Liat.SchwartzSagi@bmrn.com., Stepien KM; Salford Royal NHS Foundation Trust, Salford, UK. Electronic address: karolina.stepien@nca.nhs.uk.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2022 Sep-Oct; Vol. 137 (1-2), pp. 164-172. Date of Electronic Publication: 2022 Aug 30.