J Med Genet 2020 Oct 15. Epub 2020 Oct 15.
PathWest Diagnostic Genomics, Nedlands, Western Australia, Australia.
Eur J Hum Genet 2020 Jul 16. Epub 2020 Jul 16.
Murdoch Children's Research Institute, Parkville, VIC, Australia.
J Med Genet 2019 09 25;56(9):629-638. Epub 2019 May 25.
NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia.
J Genet Couns 2019 04 14;28(2):240-250. Epub 2018 Dec 14.
Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, Sydney, NSW, 2031, Australia.
Mov Disord Clin Pract 2019 Mar 25;6(3):263-264. Epub 2019 Feb 25.
Movement Disorders Unit, Department of Neurology Westmead Hospital Sydney Australia.
Clin Epigenetics 2018 08 30;10(1):114. Epub 2018 Aug 30.
Department of Paediatrics, University of Melbourne, Parkville, 3052, Australia.
J Am Coll Cardiol 2018 07;72(4):419-429
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia. Electronic address:
Genet Med 2019 03 2;21(3):608-612. Epub 2018 Jul 2.
Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
Mol Syndromol 2018 May 24;9(3):149-153. Epub 2018 Apr 24.
Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, SA, Australia.
Genet Med 2018 12 29;20(12):1564-1574. Epub 2018 Mar 29.
Randwick Genetics, NSW Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia.
J Neurol Neurosurg Psychiatry 2017 Aug 9. Epub 2017 Aug 9.
Department of Neurology, Liverpool Hospital, University of NSW, Liverpool, New South Wales, Australia.
N Engl J Med 2017 08;377(6):544-552
From the Divisions of Developmental and Stem Cell Biology (H.S., A.E., M.R., E.M.M.A.M., R.W., J.M., J.O.S., E.I., K.S., J.H., K.K., G.C., D.B.S., S.L.D.), Vascular Biology (G.J.M., R.S.), and Molecular, Structural, and Computational Biology (D.T.H., J.W.K.H., E.G.), Victor Chang Cardiac Research Institute, the Faculties of Medicine and Science, University of New South Wales (H.S., A.E., J.O.S., E.I., D.T.H., G.J.M., J.W.K.H., K.K., R.S., E.G., G.C., D.B.S., S.L.D.), Liverpool Hospital, Department of Clinical Genetics (A.E., A.C.), the Department of Clinical Genetics (A.E., J.S., F.C., D.O.S.) and the Heart Centre for Children (D.S.W.), Children's Hospital at Westmead, the Discipline of Genetic Medicine (A.E., J.S., F.C., D.O.S.) and the Medical School (D.S.W.), University of Sydney, and the Faculty of Medicine and Health Sciences, Macquarie University (C.K.L., G.J.G.) - all in Sydney, the School of Biological Sciences, University of Adelaide, Adelaide, SA (J.N.H., P.Q.T.), and the Institute of Health and Biomedical Innovation, Queensland University of Technology (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Translational Research Institute (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Department of Endocrinology, Royal Brisbane and Women's Hospital (E.L.D.), and the University of Queensland School of Medicine (E.L.D.), Brisbane - all in Australia; and Spectrum Health Medical Group, Medical Genetics, Grand Rapids, MI (P.R.M.).
Am J Med Genet A 2017 Jul 27;173(7):1866-1877. Epub 2017 Apr 27.
Hunter Genetics, Waratah, NSW, Australia.
Am J Med Genet A 2017 Mar;173(3):753-757
Hunter Genetics, Newcastle, Australia.
Orphanet J Rare Dis 2015 Nov 17;10:148. Epub 2015 Nov 17.
Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia.
Hum Mol Genet 2015 Sep 9;24(17):4933-47. Epub 2015 Jun 9.
INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France,
Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.
From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.
Proc Natl Acad Sci U S A 2013 Sep 26;110(37):14990-4. Epub 2013 Aug 26.
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.
Pathology 2006 Dec;38(6):507-19
Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital in the Central Clinical School, University of Sydney, New South Wales, Australia.
J Genet Couns 2003 Oct;12(5):439-56
Queensland Clinical Genetics Service, Toowoomba Base Hospital, Toowoomba, Queensland, Australia,