J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.
Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
NPJ Genom Med 2019 14;4:28. Epub 2019 Nov 14.
1Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.
Hum Mutat 2019 10 18;40(10):1731-1748. Epub 2019 Jun 18.
MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
Pediatr Int 2019 Apr;61(4):415-416
Neonatal Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia.
Nat Commun 2018 10 3;9(1):4065. Epub 2018 Oct 3.
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.
JIMD Rep 2019 14;43:71-77. Epub 2018 Apr 14.
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.
N Engl J Med 2017 10 4;377(17):1630-1638. Epub 2017 Oct 4.
From Massachusetts General Hospital and Harvard Medical School (F.E., P.L.M.), Dana-Farber and Boston Children's Cancer and Blood Disorders Center (C. Duncan, M.A., C. Dansereau, D.A.W.), and Boston Children's Hospital, Harvard Medical School, and Harvard Stem-Cell Institute (D.A.W.), Boston, and Bluebird Bio, Cambridge (A.M.P., E.S., T.O., D.D.) - all in Massachusetts; University of Minnesota Children's Hospital, Minneapolis (P.J.O., T.C.L., W.P.M., G.V.R.); University of California, Los Angeles, Los Angeles (S.D.O., R.S., A.J.S.); University College London Great Ormond Street Hospital Institute of Child Health and Great Ormond Street Hospital NHS Trust, London (A.J.T., H.B.G., P.G.); Pediatric Neurology Department, Hôpital Bicêtre-Hôpitaux Universitaires Paris Sud, Le Kremlin Bicêtre, France (C.S., P.A.); Fundacion Investigar, Buenos Aires (H.A.); and Women's and Children's Hospital, North Adelaide, SA, Australia (D.B., N.J.C.S.).
Orphanet J Rare Dis 2017 08 24;12(1):144. Epub 2017 Aug 24.
BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.
N Engl J Med 2016 Aug;375(6):545-55
From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa
JIMD Rep 2017 27;34:1-9. Epub 2016 Jul 27.
Department of Medical Genomics, Royal Prince Alfred Hospital, Missenden Road, Camperdown, 2050, Sydney, NSW, Australia.
JIMD Rep 2017 14;32:41-49. Epub 2016 Jun 14.
School of Psychology, University of Adelaide, Adelaide, SA, 5005, Australia.
Am J Med Genet A 2015 Nov 20;167A(11):2697-701. Epub 2015 Aug 20.
Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, North Adelaide, Australia.
Am J Med Genet A 2015 Jun 21;167(6):1330-6. Epub 2015 Apr 21.
SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
JIMD Rep 2015 15;19:95-100. Epub 2015 Feb 15.
Women's and Children's Hospital Adelaide, 72 King William Street, North Adelaide, 5006, Australia,
Mol Genet Metab Rep 2014 17;1:148-157. Epub 2014 Apr 17.
Department of Psychological Medicine, Women's and Children's Hospital, Adelaide, Australia.
Am J Med Genet A 2011 Dec 7;155A(12):3139-43. Epub 2011 Nov 7.
SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.