Our research is forging new paths of discovery in finding the multiple genetic causes of complex developmental disorders like congenital cardiac disease and schizophrenia. Through our ground-breaking work we are helping to develop a better understanding of emerging genomic disorders. These involve changes in the structure of the human genome that cause changes in development and later in life. The foremost amongst those is 22q11.2 Deletion Syndrome. We are world leaders in the study of adults with this complex multisystem condition. Using the latest genetic techniques and assessments, this research will lead to more specific diagnoses and delineation of disease pathways. Developing new management and preventive strategies to improve these complex lifelong conditions is fast becoming an achievable goal.
Ann Clin Transl Neurol. 2018 Nov;5(11):1314-1322
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Am J Med Genet A. 2018 Oct 05;:
Int J Obes (Lond). 2018 Sep 21;:
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Genet Med. 2018 Sep 20;:
A mouse model of 22q11.2 deletions: Molecular and behavioral signatures of Parkinson's disease and schizophrenia.
Sci Adv. 2018 Aug;4(8):eaar6637
Psychol Med. 2018 Aug 01;:1-8
Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.
Mol Psychiatry. 2018 Jun 13;:
Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.
Am J Med Genet A. 2018 May 19;:
Neurology. 2018 May 11;:
Am J Med Genet A. 2018 Apr;176(4):936-944
Senior Scientist, Toronto General Hospital Research Institute (TGHRI)
Canada Research Chair in Schizophrenia Genetics and Genomic Disorders (Tier 1)
Professor, Department of Psychiatry, University of Toronto
Director, Clinical Genetics Research Program, Centre for Addiction and Mental Health
Full Member, Institute of Medical Science, Faculty of Medicine (graduate studies), University of Toronto
Member, University of Toronto Neuroscience Program