Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Thorne NP"'
Autor:
Walsh, M, Bell, KM, Chong, B, Creed, E, Brett, GR, Pope, K, Thorne, NP, Sadedin, S, Georgeson, P, Phelan, DG, Day, T, Taylor, JA, Sexton, A, Lockhart, PJ, Kiers, L, Fahey, M, Macciocca, I, Gaff, CL, Oshlack, A, Yiu, EM, James, PA, Stark, Z, Ryan, MM, Melbourne Genomics Health Alliance
OBJECTIVE: To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy. METHODS: Singleton WES was performed in individuals recruited though one pediatric and one adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______363::42266b646e714c449a44613f76da6561
https://hdl.handle.net/10453/161431
https://hdl.handle.net/10453/161431
Autor:
Muralidhar, B, Goldstein, LD, Ng, G, Winder, DM, Palmer, RD, Gooding, EL, Barbosa-Morais, NL, Mukherjee, G, Thorne, NP, Roberts, I, Pett, MR, Coleman, N
Publikováno v:
Journal of Pathology; Aug2007, Vol. 212 Issue 4, p368-377, 10p
Akademický článek
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Autor:
Tudini E; Australian Genomics, Melbourne, VIC 3052, Australia; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Andrews J; Australian Genomics, Melbourne, VIC 3052, Australia; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia., Lawrence DM; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia., King-Smith SL; Australian Genomics, Melbourne, VIC 3052, Australia; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia., Baxter L; Pathology Queensland, Brisbane, QLD 4006, Australia., Beilby J; PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia; School of Biomedical Sciences, The University of Western Australia, Perth, WA 6009, Australia., Bennetts B; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW 2145, Australia., Beshay V; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia., Black M; Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia., Boughtwood TF; Australian Genomics, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Brion K; Pathology Queensland, Brisbane, QLD 4006, Australia., Cheong PL; Department of Medical Genomics, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW 2050, Australia; University of Sydney, Sydney, NSW 2006, Australia., Christie M; Department of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., Christodoulou J; Australian Genomics, Melbourne, VIC 3052, Australia; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW 2145, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Cox K; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia; Centre for Medical Research, The University of Western Australia, Perth, WA 6009, Australia., Dejong L; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Dinger ME; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia., Doig KD; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC 3052, Australia., Douglas E; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Dubowsky A; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Ellul M; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Fellowes A; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia., Fisk K; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Fortuno C; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Gallagher RL; Pathology Queensland, Brisbane, QLD 4006, Australia., Gao S; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Hackett E; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Hadler J; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Hipwell M; Division of Molecular Medicine, NSW Health Pathology North, Newcastle, NSW 2305, Australia., Ho G; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW 2145, Australia., Hollway G; Garvan Institute of Medical Research, Sydney, NSW 2010, Australia; Cancer Research, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Hooper AJ; Department of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Fiona Stanley Hospital Network, Perth, WA 6150, Australia; School of Medicine, The University of Western Australia, Perth, WA 6009, Australia., Kassahn KS; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, SA 5000, Australia., Krishnaraj R; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Lau C; Pathology Queensland, Brisbane, QLD 4006, Australia; The University of Queensland, Brisbane, QLD 4072, Australia., Le H; Department of Medical Genomics, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW 2050, Australia., San Leong H; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia., Lundie B; Pathology Queensland, Brisbane, QLD 4006, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia., Marty A; Melbourne Genomics Health Alliance, Melbourne, VIC 3052, Australia., McPhillips M; Division of Molecular Medicine, NSW Health Pathology North, Newcastle, NSW 2305, Australia., Nguyen LT; Department of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Fiona Stanley Hospital Network, Perth, WA 6150, Australia., Nones K; Cancer Research, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Palmer K; Genomics Statewide Services, New South Wales Health Pathology, Newcastle, NSW 2300, Australia., Pearson JV; Genome Informatics, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Quinn MCJ; Australian Genomics, Melbourne, VIC 3052, Australia; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia., Rawlings LH; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Sanchez L; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Schreiber AW; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia; School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia., Sigalas E; Department of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., Simsek A; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Soubrier J; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia; School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia., Stark Z; Australian Genomics, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia., Thompson BA; Department of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., U J; Melbourne Genomics Health Alliance, Melbourne, VIC 3052, Australia., Vakulin CG; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Wells AV; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Wise CA; Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia., Woods R; Pathology Queensland, Brisbane, QLD 4006, Australia., Ziolkowski A; Division of Molecular Medicine, NSW Health Pathology North, Newcastle, NSW 2305, Australia., Brion MJ; Australian Genomics, Melbourne, VIC 3052, Australia; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Scott HS; Australian Genomics, Melbourne, VIC 3052, Australia; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, SA 5000, Australia., Thorne NP; Australian Genomics, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Melbourne Genomics Health Alliance, Melbourne, VIC 3052, Australia; Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia., Spurdle AB; Australian Genomics, Melbourne, VIC 3052, Australia; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia. Electronic address: amanda.spurdle@qimrberghofer.edu.au.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Nov 03; Vol. 109 (11), pp. 1960-1973.
Autor:
Bauer DC; CSIRO, Sydney, Australia., Zadoorian A; CSIRO, Sydney, Australia.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia., Wilson LOW; CSIRO, Sydney, Australia., Thorne NP; Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Australia.; Melbourne Genomics Health Alliance, Parkville, Australia.; Walter and Eliza Hall Institute, Parkville, Australia.
Publikováno v:
Briefings in bioinformatics [Brief Bioinform] 2018 Mar 01; Vol. 19 (2), pp. 179-187.
Autor:
Walsh M; Murdoch Childrens Research Institute Melbourne Australia.; Royal Melbourne Hospital Melbourne Australia., Bell KM; Murdoch Childrens Research Institute Melbourne Australia., Chong B; Murdoch Childrens Research Institute Melbourne Australia., Creed E; Royal Melbourne Hospital Melbourne Australia.; Melbourne Genomics Health Alliance Melbourne Australia., Brett GR; Murdoch Childrens Research Institute Melbourne Australia.; Melbourne Genomics Health Alliance Melbourne Australia., Pope K; Murdoch Childrens Research Institute Melbourne Australia., Thorne NP; Melbourne Genomics Health Alliance Melbourne Australia.; Murdoch Childrens Research Institute Melbourne Australia.; University of Melbourne Melbourne Australia., Sadedin S; Murdoch Childrens Research Institute Melbourne Australia., Georgeson P; University of Melbourne Melbourne Australia., Phelan DG; Murdoch Childrens Research Institute Melbourne Australia., Day T; Royal Melbourne Hospital Melbourne Australia., Taylor JA; Royal Melbourne Hospital Melbourne Australia., Sexton A; Royal Melbourne Hospital Melbourne Australia., Lockhart PJ; Murdoch Childrens Research Institute Melbourne Australia.; Bruce Lefroy Centre Murdoch Childrens Research Institute Parkville Australia.; Department of Paediatrics The University of Melbourne Melbourne Australia., Kiers L; Royal Melbourne Hospital Melbourne Australia., Fahey M; Royal Melbourne Hospital Melbourne Australia., Macciocca I; Murdoch Childrens Research Institute Melbourne Australia.; Melbourne Genomics Health Alliance Melbourne Australia., Gaff CL; Melbourne Genomics Health Alliance Melbourne Australia.; University of Melbourne Melbourne Australia., Oshlack A; Murdoch Childrens Research Institute Melbourne Australia.; University of Melbourne Melbourne Australia., Yiu EM; Bruce Lefroy Centre Murdoch Childrens Research Institute Parkville Australia.; Department of Paediatrics The University of Melbourne Melbourne Australia.; Royal Children's Hospital Melbourne Australia., James PA; Royal Melbourne Hospital Melbourne Australia.; University of Melbourne Melbourne Australia., Stark Z; Murdoch Childrens Research Institute Melbourne Australia., Ryan MM; Murdoch Childrens Research Institute Melbourne Australia.; Melbourne Genomics Health Alliance Melbourne Australia.; Department of Paediatrics The University of Melbourne Melbourne Australia.; Royal Children's Hospital Melbourne Australia.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2017 Apr 26; Vol. 4 (5), pp. 318-325. Date of Electronic Publication: 2017 Apr 26 (Print Publication: 2017).
Autor:
Sadedin SP; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia., Dashnow H; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Life Sciences Computation Centre, Victorian Life Sciences Computation Initiative, Faculty of Medicine Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3010 Australia., James PA; Genetic Medicine, Royal Melbourne Hospital, Parkville, VIC 3052 Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute, Royal Parade, Parkville, VIC 3052 Australia ; Department of Mathematics and Statistics, The University of Melbourne, Melbourne, VIC 3010 Australia ; Department of Medical Biology, The University of Melbourne, Melbourne, VIC 3010 Australia., Bauer DC; CSIRO, Digital Productivity Flagship, 11 Julius Av, 2113, Sydney, Australia., Lonie A; Life Sciences Computation Centre, Victorian Life Sciences Computation Initiative, Faculty of Medicine Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3010 Australia., Lunke S; Genomic Medicine, Centre for Translational Pathology, Department of Pathology, The University of Melbourne, Melbourne, VIC 3010 Australia., Macciocca I; Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Melbourne Genomics Health Alliance, Melbourne, Australia., Ross JP; CSIRO Food and Nutrition Flagship, North Ryde, NSW 2113 Australia., Siemering KR; Australian Genome Research Facility, The Walter and Eliza Hall Institute, Royal Parade, Parkville, VIC 3050 Australia., Stark Z; Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia., White SM; Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Department of Paediatrics, The University of Melbourne, Melbourne, VIC 3010 Australia., Taylor G; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Genomic Medicine, Centre for Translational Pathology, Department of Pathology, The University of Melbourne, Melbourne, VIC 3010 Australia ; Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia., Gaff C; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Melbourne Genomics Health Alliance, Melbourne, Australia ; Department of Medicine, The University of Melbourne, Melbourne, VIC 3010 Australia., Oshlack A; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia., Thorne NP; Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Department of Medical Biology, The University of Melbourne, Melbourne, VIC 3010 Australia ; Melbourne Genomics Health Alliance, Melbourne, Australia ; Walter and Eliza Hall Institute, Parkville, VIC 3052 Australia.
Publikováno v:
Genome medicine [Genome Med] 2015 Jul 10; Vol. 7 (1), pp. 68. Date of Electronic Publication: 2015 Jul 10 (Print Publication: 2015).
High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA.
Autor:
Chandrananda D; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Melbourne, VIC, 3052, Australia. chandrananda@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Melbourne, VIC, 3010, Australia. chandrananda@wehi.edu.au., Thorne NP; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Melbourne, VIC, 3052, Australia. thorne@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Melbourne, VIC, 3010, Australia. thorne@wehi.edu.au., Bahlo M; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Melbourne, VIC, 3052, Australia. bahlo@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Melbourne, VIC, 3010, Australia. bahlo@wehi.edu.au.; Department of Mathematics and Statistics, University of Melbourne, Melbourne, VIC, 3010, Australia. bahlo@wehi.edu.au.
Publikováno v:
BMC medical genomics [BMC Med Genomics] 2015 Jun 17; Vol. 8, pp. 29. Date of Electronic Publication: 2015 Jun 17.
Autor:
Bruno DL; Murdoch Childrens Research Institute, Melbourne, VIC, Australia;, Ganesamoorthy D; Murdoch Childrens Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia;, Thorne NP; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia;, Ling L; Murdoch Childrens Research Institute, Melbourne, VIC, Australia;, Bahlo M; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne, VIC, Australia;, Forrest S; The Australian Genome Research Facility, Parkville, VIC, Australia;, Veenendaal M; Department of Nephrology, Austin Health, Melbourne, VIC, Australia;, Katerelos M; Department of Nephrology, Austin Health, Melbourne, VIC, Australia;, Skene A; Department of Anatomical Pathology, Austin Hospital, Melbourne, VIC, Australia., Ierino FL; Department of Nephrology, Austin Health, Melbourne, VIC, Australia;, Power DA; Department of Nephrology, Austin Health, Melbourne, VIC, Australia;, Slater HR; Murdoch Childrens Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; howard.slater@vcgs.org.au.
Publikováno v:
Clinical chemistry [Clin Chem] 2014 Aug; Vol. 60 (8), pp. 1105-14. Date of Electronic Publication: 2014 Jun 04.
Autor:
Oliver KL; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Lukic V; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia., Thorne NP; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia., Berkovic SF; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Scheffer IE; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Florey Institute, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia., Bahlo M; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne, Victoria, Australia.
Publikováno v:
PloS one [PLoS One] 2014 Jul 09; Vol. 9 (7), pp. e102079. Date of Electronic Publication: 2014 Jul 09 (Print Publication: 2014).