- treatments for genetic diseases
- treatments for inborn errors of metabolism
- delineating new genes involved in human genetic diseases
Prognostic Significance of Cardiac Magnetic Resonance Imaging Late Gadolinium Enhancement in Fabry Disease.
Circulation. 2018 Nov 27;138(22):2579-2581
Eur J Med Genet. 2019 Mar;62(3):177-181
Circulation. 2018 Sep 18;138(12):1195-1205
Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency.
Clin Kidney J. 2018 Jun;11(3):310-314
Use of Myocardial T1 Mapping at 3.0 T to Differentiate Anderson-Fabry Disease from Hypertrophic Cardiomyopathy.
Radiology. 2018 08;288(2):398-406
Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.
Am J Med Genet A. 2017 Mar;173(3):699-705
The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection.
Can J Cardiol. 2016 Jan;32(1):86-99
Hum Mutat. 2016 Feb;37(2):148-54
Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.
Virchows Arch. 2015 Jun;466(6):727-32
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain. 2014 May;137(Pt 5):1350-60
Assistant Professor, Department of Medicine, University of Toronto
Clinical and Metabolic Geneticist, Fred A. Litwin Centre in Genetic Medicine, University Health Network & Mount Sinai Hospital
Medical Genetics Advisor, Northern Regional Genetics Program