Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Riseley JR"'
Autor:
Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. zornitza.stark@vcgs.org.au.; Melbourne Genomics Health Alliance, Melbourne, Australia. zornitza.stark@vcgs.org.au.; Department of Paediatrics, University of Melbourne, Melbourne, Australia. zornitza.stark@vcgs.org.au., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Brett GR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Melbourne Genomics Health Alliance, Melbourne, Australia., Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Stapleton R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Kumble S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Melbourne Genomics Health Alliance, Melbourne, Australia., Phelan DG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Fanjul-Fernandez M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Marum JE; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Hunter M; Monash Genetics, Monash Children's Hospital, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia., Jarmolowicz A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Melbourne Genomics Health Alliance, Melbourne, Australia., Prawer Y; Melbourne Genomics Health Alliance, Melbourne, Australia.; Monash Genetics, Monash Children's Hospital, Melbourne, Australia., Riseley JR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Regan M; Monash Genetics, Monash Children's Hospital, Melbourne, Australia., Elliott J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Martyn M; Melbourne Genomics Health Alliance, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Best S; Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Melbourne, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Melbourne Genomics Health Alliance, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Gaff CL; Melbourne Genomics Health Alliance, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Department of Medicine, University of Melbourne, Melbourne, Australia., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Melbourne Genomics Health Alliance, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Dec; Vol. 20 (12), pp. 1554-1563. Date of Electronic Publication: 2018 Mar 15.
Autor:
Stephenson SEM; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia., Aumann TD; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia., Taylor JM; Department of Pharmacology and Therapeutics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia., Riseley JR; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria, Australia., Li R; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia.; Surgical Research, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria, Australia., Mann JR; Monash Genome Modification Platform, Monash University, Clayton, Victoria, Australia., Tomas D; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia., Lockhart PJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria, Australia. paul.lockhart@mcri.edu.au.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia. paul.lockhart@mcri.edu.au.
Publikováno v:
Scientific reports [Sci Rep] 2018 May 14; Vol. 8 (1), pp. 7528. Date of Electronic Publication: 2018 May 14.
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Autor:
Sim JC; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Scerri T; Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.; Department of Medical Biology, The University of Melbourne, Melbourne, Australia., Fanjul-Fernández M; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Riseley JR; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Gillies G; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Pope K; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., van Roozendaal H; VUMC School of Medical Sciences, Amsterdam, The Netherlands., Heng JI; The Harry Perkins Institute of Medical Research, The Center for Medical Research, University of Western Australia, Perth, Australia., Mandelstam SA; The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.; University of Melbourne, Department of Radiology, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., McGillivray G; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., MacGregor D; Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Australia., Kannan L; Department of Neurology, Royal Children's Hospital, Melbourne, Australia., Maixner W; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; Department of Neurosurgery, Royal Children's Hospital, Melbourne, Australia., Harvey AS; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Amor DJ; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Delatycki MB; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.; Clinical Genetics, Austin Health, Melbourne, Australia., Crino PB; Shriners Hospital Pediatric Research Center, Temple University, Philadelphia, PA., Bahlo M; Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.; Department of Medical Biology, The University of Melbourne, Melbourne, Australia., Lockhart PJ; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Leventer RJ; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.
Publikováno v:
Annals of neurology [Ann Neurol] 2016 Jan; Vol. 79 (1), pp. 132-7. Date of Electronic Publication: 2015 Dec 12.
Autor:
Scerri T; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research 1G Royal Parade, Parkville, Victoria, Australia., Riseley JR; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute Parkville, Victoria, Australia., Gillies G; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute Parkville, Victoria, Australia., Pope K; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute Parkville, Victoria, Australia., Burgess R; The Florey Institute of Neuroscience and Mental Health Melbourne, Australia ; Epilepsy Research Centre, University of Melbourne, Austin Health Melbourne, Australia., Mandelstam SA; The Florey Institute of Neuroscience and Mental Health Melbourne, Australia ; Department of Radiology, Royal Children's Hospital Melbourne, Australia ; Department of Radiology, University of Melbourne Melbourne, Australia., Dibbens L; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia Adelaide, Australia ; Sansom Institute for Health Research, University of South Australia Adelaide, Australia., Chow CW; Department of Pediatrics, University of Melbourne Melbourne, Australia ; Department of Anatomical Pathology, Royal Children's Hospital Melbourne, Australia., Maixner W; Department of Neurosurgery, Royal Children's Hospital Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia., Harvey AS; The Florey Institute of Neuroscience and Mental Health Melbourne, Australia ; Department of Pediatrics, University of Melbourne Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia., Jackson GD; The Florey Institute of Neuroscience and Mental Health Melbourne, Australia ; Epilepsy Research Centre, University of Melbourne, Austin Health Melbourne, Australia., Amor DJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute Parkville, Victoria, Australia ; Department of Pediatrics, University of Melbourne Melbourne, Australia., Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute Parkville, Victoria, Australia ; Department of Pediatrics, University of Melbourne Melbourne, Australia ; Clinical Genetics, Austin Health Melbourne, Australia., Crino PB; Shriners Hospital Pediatric Research Center, Temple University Philadelphia, Pennsylvania., Berkovic SF; The Florey Institute of Neuroscience and Mental Health Melbourne, Australia ; Epilepsy Research Centre, University of Melbourne, Austin Health Melbourne, Australia., Scheffer IE; The Florey Institute of Neuroscience and Mental Health Melbourne, Australia ; Epilepsy Research Centre, University of Melbourne, Austin Health Melbourne, Australia ; Department of Pediatrics, University of Melbourne Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia., Bahlo M; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research 1G Royal Parade, Parkville, Victoria, Australia., Lockhart PJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute Parkville, Victoria, Australia ; Department of Pediatrics, University of Melbourne Melbourne, Australia., Leventer RJ; Department of Pediatrics, University of Melbourne Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2015 May; Vol. 2 (5), pp. 575-80. Date of Electronic Publication: 2015 Mar 12.
Autor:
Wilson GR; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Sim JC; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., McLean C; Anatomical Pathology, The Alfred, Melbourne, VIC 3181, Australia; Australian Brain Bank Network, National Neuroscience Facility, Melbourne, VIC 3053, Australia., Giannandrea M; Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy; Pharmaceutical Research and Early Development, Neuroscience, Ophthalmology, and Rare Diseases, F. Hoffmann-La Roche, Grenzacherstrasse 124, Basel 4070, Switzerland., Galea CA; Medicinal Chemistry, Monash Institute of Pharmaceutical Sciences, Monash University, Melbourne, VIC 3052, Australia., Riseley JR; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Stephenson SE; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Fitzpatrick E; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Haas SA; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin 14195, Germany., Pope K; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Hogan KJ; Department of Anesthesiology, School of Medicine and Public Health, University of Wisconsin, Madison, WI 53792, USA., Gregg RG; Department of Biochemistry and Molecular Biology, Center for Genetics and Molecular Medicine, University of Louisville, Louisville, KY 40202, USA., Bromhead CJ; Bioinformatics Division, Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia., Wargowski DS; Waisman Center, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA., Lawrence CH; Office of the State Forensic Pathologist, Royal Hobart Hospital, Hobart, TAS 7000, Australia., James PA; Genetic Medicine Department, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., Churchyard A; Department of Neurology, Monash Children's Hospital, Melbourne, VIC 3168, Australia., Gao Y; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Phelan DG; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Gillies G; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Salce N; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Stanford L; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239-3098, USA., Marsh AP; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Mignogna ML; Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy; Pharmaceutical Research and Early Development, Neuroscience, Ophthalmology, and Rare Diseases, F. Hoffmann-La Roche, Grenzacherstrasse 124, Basel 4070, Switzerland., Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239-3098, USA., Leventer RJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Clinical Genetics, Austin Health, Melbourne, VIC 3084, Australia., Mellick GD; Eskitis Institute for Drug Discovery, Griffith University, Nathan, QLD 4111, Australia., Kalscheuer VM; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin 14195, Germany., D'Adamo P; Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy., Bahlo M; Bioinformatics Division, Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne, VIC 3010, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3010, Australia., Amor DJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Lockhart PJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address: paul.lockhart@mcri.edu.au.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2014 Dec 04; Vol. 95 (6), pp. 729-35. Date of Electronic Publication: 2014 Nov 26.