This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a University of Toronto directory, so their courses and email address may be missing. Find their university profile.
Research
Latest papers
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Human mutation · 2011
Latest funding
- $566,100
Recommendations for the Design, Maintenance, and Utilization of Rare Disease Patient Registries: Guidance for Patient Partners, Clinicians, Researchers, and Other Knowledge Users
CIHR · 2025 · Co-investigator
- $1,375,000
TRIAGE-GS: a randomized controlled trial of a genomics-first approach to rare disease diagnosis
CIHR · 2023 · Principal investigator
- $100,000
Genome-wide Sequencing: Secondary Findings Impact Study (SF-Impact Study)
CIHR · 2022 · Co-investigator
1 publications.
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E
Recommendations for the Design, Maintenance, and Utilization of Rare Disease Patient Registries: Guidance for Patient Partners, Clinicians, Researchers, and Other Knowledge Users
Principal investigators: Tricco, Andrea C
Keywords: Clinicians; Delphi Process; Guidance Formation; Key-Informant Interviews; Knowledge Users; Patient Partners; Rare Disease; Registries; Researchers; Scoping Review
TRIAGE-GS: a randomized controlled trial of a genomics-first approach to rare disease diagnosis
Principal investigators: Costain, Gregory; Caluseriu, Oana; Kim, Raymond; Boycott, Kym M
Keywords: Care Pathway; Diagnostics; Economic Impact; Genome Sequencing; Genomic Testing; Health Outcomes; Randomized Controlled Trial; Rare Diseases
Genome-wide Sequencing: Secondary Findings Impact Study (SF-Impact Study)
Principal investigators: Hayeems, Robin Z; Ungar, Wendy J
Keywords: Economic Evaluation; Genomic Medicine; Health Services And Policy Research; Medically Actionable Secondary Findings
Genome-wide Sequencing: Secondary Findings Impact Study (SF-Impact Study)
Principal investigators: Hayeems, Robin Z; Ungar, Wendy J
Keywords: Economic Evaluation; Genomic Medicine; Health Services And Policy Research; Medically Actionable Secondary Findings
Defining and measuring the value of genetic testing from patients' perspectives: Developing the Patient-reported Genetic testing Utility InDEx (P-GUIDE)
Principal investigators: Hayeems, Robin Z
Keywords: Genomic Medicine; Measurement Science; Patient Reported Outcome Measure
EpigenCentral: Consolidated epigenetic landscape for congenital, developmental and childhood disorders.
Principal investigators: Brudno, Michael
Keywords: Bioinformatics
Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
Principal investigators: Brudno, Michael; Bowdin, Sarah; Boycott, Kym M; Chitayat, David A
Keywords: Clinical Genetics; Health Informatics; Phenotyping; Rare Disorders
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
A short, specific email works best. This draft uses one of their recent papers; replace the parts in brackets with your own details before sending.