23 Publications
BMJ Open 2020 12 17;10(12):e040230. Epub 2020 Dec 17.
Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia
Neurology 2020 12 3;95(24):e3163-e3179. Epub 2020 Nov 3.
From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany; DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic; Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland; Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp; Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp; Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium; Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital; Centogene AG (C.B.), Rostock, Germany; Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway; Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany; Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis; Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster; Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany; Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia; Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria; AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK; Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz; Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria; Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA; Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.); Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands; Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands; Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia; Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria; Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Department of Neurology (S.P.), Hannover Medical School, Germany; Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy; Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria; Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany; AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre; Le Kremlin-Bicêtre, France; Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg; Institute for Human Genetics (T.M.S.), Technical University Munich; and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany.
Brain 2020 10;143(10):2904-2910
Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia.
J Med Genet 2020 Oct 15. Epub 2020 Oct 15.
PathWest Diagnostic Genomics, Nedlands, Western Australia, Australia.
Mol Diagn Ther 2020 12 30;24(6):641-652. Epub 2020 Sep 30.
Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, 6 Verdun St, Nedlands, WA, 6009, Australia.
Hum Genet 2020 Oct 12;139(10):1325-1343. Epub 2020 May 12.
Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia.
Ann Clin Transl Neurol 2020 03 9;7(3):353-362. Epub 2020 Mar 9.
Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
Brain 2020 02;143(2):480-490
Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
Ann Neurol 2018 06;83(6):1105-1124
Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.
Am J Hum Genet 2018 03;102(3):505-514
Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:
Neuromuscul Disord 2017 Sep 15;27(9):873-878. Epub 2017 May 15.
Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia; Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Perth, WA 6000, Australia.
Neuromuscul Disord 2017 Jul 5;27(7):607-615. Epub 2017 May 5.
Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia. Electronic address:
Neuromuscul Disord 2016 08 11;26(8):504-10. Epub 2016 May 11.
MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.
Mitochondrion 2015 Nov 30;25:113-9. Epub 2015 Oct 30.
Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Western Australia 6009, Australia; School of Chemistry and Biochemistry, The University of Western Australia, Western Australia 6009, Australia. Electronic address:
Eur J Hum Genet 2015 Nov 25;23(11). Epub 2015 Feb 25.
Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
Brain 2015 Apr 12;138(Pt 4):836-44. Epub 2015 Feb 12.
1 Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
Hum Mutat 2014 Jul 21;35(7):868-79. Epub 2014 May 21.
Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Western Australia, Australia; Diagnostic Genomics Laboratory, Pathwest, Queen Elizabeth II Medical Centre, Nedlands, Western Australia, Australia.
Eur J Hum Genet 2012 Jun 18;20(6). Epub 2012 Apr 18.
Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.
Eur J Hum Genet 2011 Jul 2;19(7):769-75. Epub 2011 Mar 2.
Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
Adv Exp Med Biol 2008 ;642:78-91
Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.
Ann Neurol 2008 Sep;64(3):294-303
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Victoria, Australia.
Curr Opin Neurol 2005 Oct;18(5):504-10
Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Perth, Western Australia, Australia.
Brain 2003 Apr;126(Pt 4):783-91
Centre for Education and Research on Ageing, University of Sydney and Concord Hospital, New South Wales, Australia.