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 may be missing. Find their university profile.
Research
Latest papers
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
The Journal of clinical investigation · 2026
The Patient-reported Genetic testing Utility InDEx: A novel measure of personal utility.
Genetics in medicine : official journal of the American College of Medical Genetics · 2026
Correction: The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services.
European journal of human genetics : EJHG · 2026
Latest funding
- $248,625
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Development and validation for neonatal intensive care
CIHR · 2024 · Co-investigator
- $100,000
Genome-wide Sequencing: Secondary Findings Impact Study (SF-Impact Study)
CIHR · 2022 · Co-investigator
- $100,000
Genome-wide Sequencing: Secondary Findings Impact Study (SF-Impact Study)
CIHR · 2021 · Co-investigator
41 publications.
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
Johannesen KM, Aung KP, Liao VW, Absalom N, Chua HC, Gan XN, Mao M, McKenzie CE, Lee HM, Ortiz S, Spillmann RC, Shashi V, Radtke RA, Mirzaa GM, Weisner PA, Flores Daboub J, Hagedorn C, Bayrak-Toydemir P, DeMille D, Zhao J, Bajaj N, Capri Y, Keren B, Schmidts M, van de Laar IM, van Slegtenhorst MA, Ploski R, Bogotko M, Bourque DK, Alkhunaizi E, Chad L, Quercia N, Elloumi H, Wentzensen IM, Kruer MC, Bisarad P, Galaz-Montoya CI, Rusu V, Braun D, Angione K, Win JC, Espinosa-Jovel C, Zacher P, Platzer K, Berkovic SF, Scheffer IE, Chebib M, Rubboli G, Møller RS, Reid CA, Ahring PK
The Patient-reported Genetic testing Utility InDEx: A novel measure of personal utility.
Poole E, Xiao B, Luca S, Assamad D, Abbott LS, Armstrong L, Boycott KM, Carroll JC, Chad L, De Bie I, Denburg A, Deyell RJ, Elliott AM, Goudie C, Laberge AM, Mucha BE, Peltekova IT, Quinlan B, Sawyer SL, Smith M, Villani A, Ungar WJ, Hayeems RZ, P-GUIDE Study Team
Correction: The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services.
Saeedi S, Hirjikaka D, Clausen M, Luca S, Reble E, Kodida R, Assamad D, Chad L, Costain G, Faghfoury H, Silver J, Shastri-Estrada S, Smith M, Hayeems RZ, Bombard Y, Genetics Navigator Study Team
First-Line Genetic Testing in Patients with Cleft Palate Only: The Role of Chromosomal Microarray Analysis.
Tang EA, Pan AY, Stanley KJ, Costain G, Chad L, Ravamehr-Lake D, Wong Riff K
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
Mackley MP, Dickson MA, Szuto A, Anderson J, Chitayat D, Hayeems RZ, Mendoza-Londono R, Ng E, Offringa M, Wang YW
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study
Assamad D, Hansen A, Fooks K, Luca S, Venkataramanan V, Hsue E, Shickh S, Yan J, Wu V, Badalato L
Understanding the decision of parents to opt‐out of medically actionable secondary findings offered through genome sequencing
Hansen A, Luca S, Moran O, Babul‐Hirji R, Coe TB, Wilk K, Assamad D, Fooks K, Venkataramanan V, Shickh S
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity.
Hayeems RZ, Luca S, Xiao B, Boswell-Patterson C, Lavin Venegas C, Abi Semaan CR, Kolar T, Myles-Reid D, Chad L, Dyment D, Boycott KM, Lazier J, Ungar WJ, Armour CM
The Clinician-reported Genetic Testing Utility InDEx for Neonatal Intensive Care (C-GUIDE NICU): Quantifying genome-wide sequencing utility in the NICU.
Dolman LI, Yan J, Luca S, Xiao B, Shickh S, Poole E, Chad L, Ungar WJ, Offringa M, Hayeems RZ
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.
Rudy NL, Gomes A, Tkemaladze T, Abdul-Rahman O, Cratsenberg D, Pascolini G, Di Zenzo G, Castiglia D, Black E, Washington C, Chad L, Curry C, Del Campo M, Fleischer N, Bird LM, Hurst ACE
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Development and validation for neonatal intensive care
Principal investigators: Hayeems, Robin Z
Keywords: Clinical Utility; Genomics; Neonatal Intensive Care; Outcome Measurement Development
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
The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine
Principal investigators: Bombard, Yvonne; Hayeems, Robin Z
Keywords: E-Health Tools; Genomics; Patient Facing Health Tools; Personalized Healthcare; Randomized Controlled Trial; User-Centered Design
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
The Genetics Navigator: A novel digital platform for delivering personalized genetic services
Principal investigators: Bombard, Yvonne; Chad, Lauren; Hayeems, Robin Z; Mamdani, Muhammad; Smith, Maureen M
Keywords: Chatbots; Comparative Effectiveness Research; Cost-Effectiveness Analysis; E-Health Tools; Genomic Sequencing; Patient/User Experience; Predictive Algorithms; Qualitative Research; Randomized Controlled Trial; User-Centered Design
The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine
Principal investigators: Bombard, Yvonne; Hayeems, Robin Z
Keywords: E-Health Tools; Genomics; Patient Facing Health Tools; Personalized Healthcare; Randomized Controlled Trial; User-Centered Design
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
- Pediatrics
- Computer Science
- Department of Medicine
- Li Ka Shing Knowledge
- Institute of Health Policy, Management, and Evaluation
- Epidemiology Division
- Genetics and Genome Biology
- Other
Co-authors at University of Toronto, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Gregory Costain
Faculty
12 shared papers, latest 2026
Yvonne Bombard
Institute of Health Policy, Management, and Evaluation
5 shared papers, latest 2026
Anne-Marie Laberge
Pediatrics
5 shared papers, latest 2026
Mark Tarnopolsky
Pediatrics
5 shared papers, latest 2026
David Chitayat
Computer Science
5 shared papers, latest 2026
Maureen Smith
Epidemiology Division
4 shared papers, latest 2026
Eriskay Liston
Faculty
4 shared papers, latest 2024
Rosanna Weksberg
Genetics and Genome Biology
4 shared papers, latest 2024
Ashish Marwaha
Faculty
3 shared papers, latest 2024
Eleanor Pullenayegum
Biostatistics Division
3 shared papers, latest 2023
Peter Kannu
Developmental and Stem Cell Biology
3 shared papers, latest 2024
Ronald Cohn
Faculty
3 shared papers, latest 2024
Olga Jarinova
Pathology and Laboratory Medicine
2 shared papers, latest 2026
Taila Hartley
Faculty
2 shared papers, latest 2024
Ashish Marwaha
Pediatrics
2 shared papers, latest 2024
Martin Offringa
Surgery
2 shared papers, latest 2026
David Dyment
Faculty
2 shared papers, latest 2025
Michael Brudno
Computer Science
2 shared papers, latest 2024
Gail Graham
Faculty
2 shared papers, latest 2024
Raymond Kim
Department of Medicine
2 shared papers, latest 2024
Catherine Goudie
Faculty
2 shared papers, latest 2026
Avram Denburg
Faculty
2 shared papers, latest 2026
Jodi Warman Chardon
Department of Medicine
2 shared papers, latest 2024
Kirsten Bartels
Medical Genetics
1 shared papers, latest 2024
Kristin Kernohan
Pediatrics
1 shared papers, latest 2023
Beth Potter
School of Epidemiology and Public Health
1 shared papers, latest 2024
Michael Geraghty
Pediatrics
1 shared papers, latest 2023
Ayeshah Chaudhry
Department of Laboratory Medicine and Pathobiology
1 shared papers, latest 2016
Karen Leslie
Department of Paediatrics
1 shared papers, latest 2025
Steven Gallinger
Medical Biophysics
1 shared papers, latest 2008
Jagdeep Walia
Pediatrics
1 shared papers, latest 2023
Francois Bernier
Cell Biology and Anatomy
1 shared papers, latest 2024
Ian Stedman
Public Policy
1 shared papers, latest 2024
James Anderson
Clinical Public Health Division
1 shared papers, latest 2026
Wendy Ungar
Institute of Health Policy, Management, and Evaluation
1 shared papers, latest 2024
Melanie Lacaria
Institute for Stem Cell Research
1 shared papers, latest 2024
Cynthia Hawkins
Department of Laboratory Medicine and Pathobiology
1 shared papers, latest 2012
Resham Ejaz
Pediatrics
1 shared papers, latest 2016
Chumei Li
Pediatrics
1 shared papers, latest 2023
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