23 Publications
Mol Genet Metab 2020 Sep - Oct;131(1-2):66-82. Epub 2020 Sep 18.
Departments of Medical Genetics and Pediatrics, University of Calgary Cumming School of Medicine, Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada. Electronic address:
Orphanet J Rare Dis 2020 04 10;15(1):89. Epub 2020 Apr 10.
University of Ottawa, Ottawa, Ontario, Canada.
Orphanet J Rare Dis 2020 01 14;15(1):12. Epub 2020 Jan 14.
School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Can J Neurol Sci 2019 11;46(6):717-726
School of Epidemiology & Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Proc Natl Acad Sci U S A 2019 05 29;116(20):9865-9870. Epub 2019 Apr 29.
Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium;
Orphanet J Rare Dis 2019 03 22;14(1):70. Epub 2019 Mar 22.
School of Epidemiology and Public Health, Faculty of Medicine, University of Ottawa, 600 Peter Morand Cr, Ottawa, ON, K1G 5Z3, Canada.
JIMD Rep 2018 21;42:9-17. Epub 2017 Nov 21.
BioMarin Pharmaceutical Inc., Novato, CA, USA.
Am J Hum Genet 2017 Aug 20;101(2):206-217. Epub 2017 Jul 20.
Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Johannes Gutenberg University, Mainz 55122, Germany; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, Manchester Academic Health Science Centre, Manchester M13 9NT, UK. Electronic address:
Am J Med Genet A 2017 May 28;173(5):1452. Epub 2017 Mar 28.
Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan.
Orphanet J Rare Dis 2016 12 7;11(1):168. Epub 2016 Dec 7.
Faculty of Medicine, School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.
Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.
Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Am J Med Genet A 2017 Mar 27;173(3):596-600. Epub 2016 Sep 27.
Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, SK, Canada.
Orphanet J Rare Dis 2016 Feb 3;11:12. Epub 2016 Feb 3.
School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Rd, Ottawa, ON, K1H 8 M5, Canada.
Pediatr Blood Cancer 2016 Apr 25;63(4):740-2. Epub 2016 Jan 25.
Section of Clinical Genetics, Department of Paediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Hum Mutat 2015 Nov 27;36(11):1048-51. Epub 2015 Aug 27.
Human Genetics Program, Sanford - Burnham - Prebys Medical Discovery Institute, La Jolla, California.
J Inherit Metab Dis 2016 Jan 25;39(1):139-47. Epub 2015 Jul 25.
Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.
Am J Med Genet A 2015 Oct 10;167A(10):2272-81. Epub 2015 Jun 10.
UCSF Benioff Children's Hospital Oakland, Oakland, California.
BMC Pediatr 2015 Feb 13;15. Epub 2015 Feb 13.
University of Ottawa, 451 Smyth Road, Ottawa, ON, Canada.
Prenat Diagn 2009 Mar;29(3):283-6
Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.
J Obstet Gynaecol Can 2008 Sep;30(9):781-787
Department of Obstetrics and Gynaecology, University of Calgary, Calgary AB.
J Obstet Gynaecol Can 2008 Jul;30(7):617-21, 622-7
Calgary AB, Canada.
Cardiol Young 2007 Apr 23;17(2):215-7. Epub 2007 Jan 23.
Department of Medical Genetics, University of Calgary, Alberta, Canada.
Cardiol Young 2005 Apr;15(2):229-31