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Research
Latest papers
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.
BMJ open · 2024
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.
Human genetics · 2023
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
Human genetics · 2023
Latest funding
- $25,970
Establishing Community Trust to Advance Equitable Participation in Genetic Research and Precision Medicine: Developing a Precision Child Health Engagement Strategy
CIHR · 2025 · Co-investigator
- $199,994
BRIDGE-SEQ: Pediatric Patient-Centered Guidelines for Returning Genomic Finding, from Research to Clinical Practice
CIHR · 2025 · Principal investigator
The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine
CIHR · 2021 · Co-investigator
15 publications.
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.
D'Amours G, Clausen M, Luca S, Reble E, Kodida R, Assamad D, Bernier F, Chad L, Costain G, Dhalla I, Faghfoury H, Friedman JM, Hewson S, Jamieson T, Silver J, Shuman C, Osmond M, Carroll JC, Jobling R, Laberge AM, Aronson M, Liston E, Lerner-Ellis J, Marshall C, Brudno M, Pham Q, Rudzicz F, Cohn R, Mamdani M, Smith M, Shastri-Estrada S, Seto E, Thorpe K, Ungar W, Hayeems RZ, Bombard Y
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.
Luca S, Clausen M, Shaw A, Lee W, Krishnapillai S, Adi-Wauran E, Faghfoury H, Costain G, Jobling R, Aronson M, Liston E, Silver J, Shuman C, Chad L, Hayeems RZ, Bombard Y, Genetics Navigator Study Team
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
Ding Q, Somerville C, Manshaei R, Trost B, Reuter MS, Kalbfleisch K, Stanley K, Okello JBA, Hosseini SM, Liston E, Curtis M, Zarrei M, Higginbotham EJ, Chan AJS, Engchuan W, Thiruvahindrapuram B, Scherer SW, Kim RH, Jobling RK
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis.
Jegathisawaran J, Tsiplova K, Hayeems RZ, Marshall CR, Stavropoulos DJ, Pereira SL, Thiruvahindrapuram B, Liston E, Reuter MS, Manshaei R, Cohn I, Jobling R, Kim RH, Mital S, Ungar WJ
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Hayeems RZ, Luca S, Ungar WJ, Venkataramanan V, Tsiplova K, Bashir NS, Costain G, Inglese C, McNiven V, Quercia N, Shugar A, Yoon G, Cytrynbaum C, Dupuis L, Shao Z, Hewson S, Shuman C, Aul R, Liston E, Babul-Hirji R, Bushby A, Pullenayegum E, Chad L, Meyn MS
Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.
Cohn I, Manshaei R, Liston E, Okello JBA, Khan R, Curtis MR, Krupski AJ, Jobling RK, Kalbfleisch K, Paton TA, Reuter MS, Hayeems RZ, Verstegen RHJ, Goldman A, Kim RH, Ito S
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Manshaei R, Merico D, Reuter MS, Engchuan W, Mojarad BA, Chaturvedi R, Heung T, Pellecchia G, Zarrei M, Nalpathamkalam T, Khan R, Okello JBA, Liston E, Curtis M, Yuen RKC, Marshall CR, Jobling RK, Oechslin E, Wald RM, Silversides CK, Scherer SW, Kim RH, Bassett AS
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
Curtis M, Baribeau D, Walker S, Carter M, Costain G, Lamoureux S, Liston E, Marshall CR, Reuter MS, Snell M, Summers J, Vorstman J, Jobling RK
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Reuter MS, Chaturvedi RR, Liston E, Manshaei R, Aul RB, Bowdin S, Cohn I, Curtis M, Dhir P, Hayeems RZ, Hosseini SM, Khan R, Ly LG, Marshall CR, Mertens L, Okello JBA, Pereira SL, Raajkumar A, Seed M, Thiruvahindrapuram B, Scherer SW, Kim RH, Jobling RK
Establishing Community Trust to Advance Equitable Participation in Genetic Research and Precision Medicine: Developing a Precision Child Health Engagement Strategy
Principal investigators: Buchanan, Francine; Goldstein, Alanna
Keywords: Community Engagement; Cultural Responsiveness; Equitable Participation; Genetic Research; Patient & Public Involvement; Patient Engagement; Precision Medicine; Trust Building; Underrepresented Communities
BRIDGE-SEQ: Pediatric Patient-Centered Guidelines for Returning Genomic Finding, from Research to Clinical Practice
Principal investigators: Buchanan, Francine; Liston, Eriskay
Keywords: Cultural Responsiveness; Equitable Participation; Genetic Research; Genetic Sequencing; Patient & Family Engagement; Patient & Public Involvement; Pediatric Medicine; Precision Medicine; Return Of Genetic Test Results; Underrepresented Communities
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
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
- Institute of Health Policy, Management, and Evaluation
- Department of Laboratory Medicine and Pathobiology
- Li Ka Shing Knowledge
- Department of Medicine
- Neurology and Neurosurgery
- 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
6 shared papers, latest 2024
Lauren Chad
Li Ka Shing Knowledge
4 shared papers, latest 2024
Sarah Bowdin
Computer Science
3 shared papers, latest 2020
Raymond Kim
Department of Medicine
2 shared papers, latest 2018
Yvonne Bombard
Institute of Health Policy, Management, and Evaluation
2 shared papers, latest 2024
Seema Mital
Pediatrics
2 shared papers, latest 2022
Michael Brudno
Computer Science
2 shared papers, latest 2024
Daniela Pohl
Pediatrics
1 shared papers, latest 2021
Ayeshah Chaudhry
Department of Laboratory Medicine and Pathobiology
1 shared papers, latest 2016
Eleanor Pullenayegum
Biostatistics Division
1 shared papers, latest 2022
Jordan Lerner-Ellis
Department of Laboratory Medicine and Pathobiology
1 shared papers, latest 2024
Wendy Ungar
Institute of Health Policy, Management, and Evaluation
1 shared papers, latest 2024
Shinya Ito
Internal Medicine
1 shared papers, latest 2021
Constantin Polychronakos
Pediatrics
1 shared papers, latest 2021
Bernard Brais
Neurology and Neurosurgery
1 shared papers, latest 2021
Elsa Rossignol
Neurosciences
1 shared papers, latest 2021
Ronald Cohn
Faculty
1 shared papers, latest 2024
Frank Rudzicz
Medicine
1 shared papers, latest 2024
Luc Mertens
Pediatrics
1 shared papers, latest 2020
Peter Kannu
Developmental and Stem Cell Biology
1 shared papers, latest 2016
Irfan Dhalla
Pediatrics
1 shared papers, latest 2024
Brett Trost
Faculty
1 shared papers, latest 2023
Jacob Vorstman
Psychiatry
1 shared papers, latest 2020
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