21 Publications
J Med Genet 2020 Nov 30. Epub 2020 Nov 30.
Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, British Columbia, Canada
Genet Med 2019 07 13;21(7):1621-1628. Epub 2018 Dec 13.
BC Children's Hospital Research Institute, Vancouver, BC, Canada.
Neuroscience 2018 08 29;384:152-164. Epub 2018 May 29.
Division of Biochemical Diseases, Department of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada; Department of Pediatrics and Clinical Genetics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
BMC Med Genomics 2017 11 29;10(1):69. Epub 2017 Nov 29.
Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Vancouver, BC, Canada.
Child Neurol Open 2016 Jan-Dec;3:2329048X16669912. Epub 2016 Sep 26.
BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Cold Spring Harb Mol Case Stud 2017 Jan;3(1):a001156
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.
From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen
Mol Genet Metab 2016 May 4;118(1):21-7. Epub 2016 Mar 4.
Centre for Molecular Medicine, Child & Family Research Institute, Vancouver, Canada; Department of Pediatrics, University of British Columbia, Canada. Electronic address:
Mol Genet Metab 2016 Jan 17;117(1):42-8. Epub 2015 Nov 17.
Division of Biochemical Diseases, Dept of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada; Center for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada. Electronic address:
Nucleic Acids Res 2016 Jan 3;44(D1):D110-5. Epub 2015 Nov 3.
Centre for Molecular Medicine and Therapeutics at the Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4, BC, Canada
J Am Med Inform Assoc 2016 Mar 27;23(2):257-68. Epub 2015 Jun 27.
Centre for Molecular Medicine and Therapeutics; Child and Family Research Institute, Vancouver BC, Canada Treatable Intellectual Disability Endeavour in British Columbia (www.tidebc.org), Vancouver, Canada Department of Medical Genetics, University of British Columbia, Vancouver BC, Canada
Orphanet J Rare Dis 2015 Mar 28;10:38. Epub 2015 Mar 28.
Department of Anesthesiology, Stony Brook University, Stony Brook, NY, 11794-8480, USA.
Orphanet J Rare Dis 2015 Feb 27;10:23. Epub 2015 Feb 27.
Centre for Molecular Medicine and Therapeutics, Vancouver, Canada.
Eur J Hum Genet 2015 Oct 21;23(10):1301-7. Epub 2015 Jan 21.
Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
BMC Med Genomics 2014 Dec 3;7:64. Epub 2014 Dec 3.
Orphanet J Rare Dis 2014 Sep 20;9:141. Epub 2014 Sep 20.
J Biomed Inform 2014 Oct 24;51:129-36. Epub 2014 May 24.
Centre for Molecular Medicine and Therapeutics, Child & Family Research Institute, 950 28th Ave W, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, 2329 West Mall, Vancouver, BC V6T 1Z4, Canada. Electronic address:
Am J Hum Genet 2014 Mar 13;94(3):453-61. Epub 2014 Feb 13.
Division of Biochemical Diseases, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Treatable Intellectual Disability Endeavour in British Columbia, BC Children's Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
Orphanet J Rare Dis 2014 Jan 28;9:15. Epub 2014 Jan 28.
Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.
Nucleic Acids Res 2014 Jan 4;42(Database issue):D142-7. Epub 2013 Nov 4.
Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics at the Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada, Department of Biology and Biotech Research and Innovation Centre, The Bioinformatics Centre, Copenhagen University, Ole Maaloes Vej 5, DK-2200, Denmark, Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599, USA, Laboratoire Physiologie Cellulaire & Végétale, Université Grenoble Alpes, CNRS, CEA, iRTSV, INRA, 38054 Grenoble, France, Computational Regulatory Genomics, MRC Clinical Sciences Centre, Imperial College London, Du Cane Road, London W12 0NN, UK, and Department of Informatics, University of Bergen, Thormøhlensgate 55, N-5008 Bergen, Norway.
Nucleic Acids Res 2010 Sep 11;38(17):5718-34. Epub 2010 May 11.
Department of Environmental Health Sciences Department, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.