Eur J Hum Genet 2020 Oct 1;28(10):1422-1431. Epub 2020 Jun 1.
Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Am J Med Genet A 2020 04 21;182(4):673-680. Epub 2020 Jan 21.
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Front Genet 2019 29;10:611. Epub 2019 Jul 29.
Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, United Kingdom.
N Engl J Med 2019 06;380(26):2586-2587
Alberta Children's Hospital, Calgary, AB, Canada
N Engl J Med 2019 03;380(12):1150-1157
From the Departments of Laboratory Medicine (C.M.H., S.L.F., T.J.L., K.J.J., A.N.H.) and Medicine (A.N.H.) and the Kidney Research Institute (A.N.H.), University of Washington, Seattle; and the Department of Endocrinology and Metabolism (H.B.) and the Alberta Children's Hospital Research Institute (B.A.), University of Calgary, and the Division of Medical Genetics, Alberta Children's Hospital (R.L., P.F., J.L.M.), Calgary, and the Department of Pathology, Children's & Women's Health Centre of British Columbia, Vancouver (L.B.) - all in Canada.
JIMD Rep 2016 16;30:73-79. Epub 2016 Jun 16.
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Am J Med Genet A 2016 Jan 16;170A(1):11-8. Epub 2015 Sep 16.
Genetic Medicine Central California, Fresno, California.
CMAJ 2015 Feb 1;187(2):102-107. Epub 2014 Dec 1.
Department of Genetics (Marcadier), Children's Hospital of Eastern Ontario; Division of Gastroenterology, Hepatology and Nutrition (Boland), Children's Hospital of Eastern Ontario; Department of Pediatrics (Boland, Issa, Geraghty, Lines), University of Ottawa and Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ont.; Department of Pediatrics (Scott, Wu), University of Washington, Seattle, Wash.; Robarts Research Institute (McIntyre, Hegele), Schulich School of Medicine and Dentistry, Western University, London, Ont.; Metabolics (Geraghty, Lines), Children's Hospital of Eastern Ontario, Ottawa, Ont.
Orphanet J Rare Dis 2013 Jul 9;8:98. Epub 2013 Jul 9.
Am J Hum Genet 2003 Nov 21;73(5):1092-105. Epub 2003 Oct 21.
Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
J Biol Chem 2003 Sep 14;278(36):33848-56. Epub 2003 Jun 14.
Department of Molecular & Medical Genetics, University of Toronto, Ontario M5A 1X8, Canada.