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.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
CMAJ. 2018 Feb 05;190(5):E126-E136
Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.
Am J Med Genet A. 2018 Jan 24;:
Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Hum Mol Genet. 2018 Jan 18;:
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.
Genome Med. 2017 Nov 30;9(1):105
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.
Circ Cardiovasc Genet. 2017 Oct;10(5):
Curr Psychiatry Rep. 2017 Sep 20;19(11):82
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
JAMA Neurol. 2017 Aug 28;:
A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.
Mol Psychiatry. 2017 Aug 01;:
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Am J Psychiatry. 2017 Jul 28;:appiajp201716121417
NPJ Genom Med. 2016 Sep 14;1:16031
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