Faculty profile

Gregory Costain

ResearcherUniversity of Toronto

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.

Gregory Costain

Researcher

Health Sciences

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
78 publications in the last five years, latest in 2026.
Senior (last) author on 14 recent papers, a sign of leading a research group.
Principal investigator on 3 research grants (3 CIHR), most recently in 2024.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

135

Publications

950

Citations

h-index

Collaborators

Grants

Publications by year

Counts cover the works listed on the university profile; citation counts come from Dimensions.

Profiles and links

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Signals and details

Research

Genome Sequencing Epilepsy Genetic Testing Paediatrics Pharmacogenetics Care Pathway Diagnostics Economic Impact

Latest papers

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.
Genetics in medicine : official journal of the American College of Medical Genetics · 2026
First-Line Genetic Testing in Patients with Cleft Palate Only: The Role of Chromosomal Microarray Analysis.
Plastic and reconstructive surgery · 2026
A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.
Genetics · 2026 · senior author

All 135 publications

Latest funding

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
$566,100
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Development and validation for neonatal intensive care
CIHR · 2024 · Co-investigator
$248,625
Developing long-read genome sequencing as a clinical genetic test for infantile epilepsy
CIHR · 2024 · Nominated PI
$150,000

All 15 grants and awards

135 publications.

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.

Hayeems RZ, Ungar WJ, Marshall CR, Gillespie MK, Szuto A, Huang L, Venkataramanan V, Xiao B, Chisholm C, Stavropoulos DJ, Bergeron MB, Lee W, Costain G, Jobling R, Sawyer S, Price EM, Lau L, Mendoza R, Somerville MJ, Boycott KM

Genetics in medicine : official journal of the American College of Medical Genetics2026

DOI: 10.1016/j.gim.2025.101605 PMID: 41084864

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

Plastic and reconstructive surgery2026

DOI: 10.1097/prs.0000000000013367 PMID: 42554692

A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.

Dai Z, Costain G

Genetics2026Senior author

DOI: 10.1093/genetics/iyaf271 PMID: 41533769

An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic condition.

Jha V, Tsetsos C, Bedford M, Costain G, Vohra S, Diaz Martinez JP, Heon E, Vorstman J, Gorodetsky C, Vincent A, Rapley J, Anderson L, Anagnostou E, Baribeau DA

Epilepsia2026

DOI: 10.1002/epi.70253 PMID: 41999155

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

Sherrill E, Cheerie D, Beck CJ, Whittle EF, Shafi Y, Chandler NJ, Christodoulou J, Daniel J, Hassell J, Lachgar-Ruiz M, Mulhern S, Scotchman E, Sidhu J, Tedja CF, Chitty LS, Cross JH, Scheffer IE, Zhou H, Yu TW, Chau V, Stephenson SEM, Poduri A, Howell KB, McTague A, Costain G, D'Gama AM, Gene-STEPS Study Group

JAMA neurology2026

DOI: 10.1001/jamaneurol.2026.1021 PMID: 42081236

Interventional genomics: Bridging germline diagnosis and therapeutic action.

Giannikopoulos P, Lauffer MC, Marshall CR, Costain G, Niu Z, Bick D, Shen W, Hiemenz MC, Bhatt S, Grody W, Jobanputra V, Medical Genome Initiative

Genetics in medicine : official journal of the American College of Medical Genetics2026

DOI: 10.1016/j.gim.2026.102532 PMID: 41653024

Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?

Arkush L, Karandasheva K, Ouellet F, D'Gama AM, Rosen Sheidley B, Liang NSY, Chau V, Costain G, Smith L, Alwis A, Eltze C, Poduri A, D'Arco F, Adams J, Lee K, Singh J, Brown APY, Nagendran A, Pode-Shakked B, Tzadok M, Ben Zeev B, McTague A

NPJ genomic medicine2026

DOI: 10.1038/s41525-026-00581-0 PMID: 42185328

Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.

Kumar R, Gardner A, Bhattacharjee R, Agarwala S, van Eyk CL, Corbett MA, Carroll R, Kroes T, Ritchie T, de Nys R, Mazurkiewicz D, Bing W, Palmer EE, Field M, Verseput JJA, de Vries BBA, Dingemans AJM, Zhang Q, Li F, Bernier F, Lauzon J, Śmigiel R, Ortigoza-Escobar JD, García-Cazorla A, Darling A, Boerkoel CF, Huynh S, Costain G, van Ham TJ, Kasteleijn E, van Slegtenhorst M, Barakat TS, Elgersma Y, van Ierland Y, Veenma D, Azmanov D, Weisman AG, Prada CE, Parkash S, Rideout AL, Kerstjens-Frederikse WS, Vengoechea J, Schoene-Bake JC, Devillard F, van der Smagt J, Giesbertz NAA, Fry AE, Jezkova J, Kampmeier A, Kuechler A, Grasshoff U, Bertrand M, Hickey SE, Hunter JM, Marr MV, Dupont J, Bigoni S, Ferlini A, Selvatici R, Chatron N, Lesca G, Januel L, Rossi M, Rogers C, Davis JM, McKenzie F, Marbach F, Gieldon L, Schmidt WM, Paquay A, Bittner RE, Mahal S, Bernert G, Sinnerbrink I, Goodwin L, Cooper S, Bannink N, Jolly LA, McGaughran J, Bosman A, Hernan R, Chung WK, Valenzuela I, Cuscó I, Schlüter A, Pujol A, Pérez-Jurado LA, Gecz J

Genetics in medicine : official journal of the American College of Medical Genetics2026

DOI: 10.1016/j.gim.2026.102734 PMID: 42781784

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

European journal of human genetics : EJHG2026

DOI: 10.1038/s41431-026-02094-x PMID: 41927803

Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification.

Dai Z, Haque B, Xi S, Costain G

Genome medicine2026Senior author

DOI: 10.1186/s13073-026-01631-z PMID: 41882768

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Gregory Costain

Research

Latest papers

Latest funding

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.

First-Line Genetic Testing in Patients with Cleft Palate Only: The Role of Chromosomal Microarray Analysis.

A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.

An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic condition.

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

Interventional genomics: Bridging germline diagnosis and therapeutic action.

Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?

Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.

Correction: The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services.

Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification.

Chasing stochastics, a multidisciplinary approach to develop genetic models predicting the likelihood of stochastic events.

Frequent collaborators

Lauren Chad

Rosanna Weksberg

Eriskay Liston

Brett Trost

David Chitayat

Robyn Whitney

Taila Hartley

Sarah Bowdin

Peter Kannu

Julia Orkin

Jacob Vorstman

Yvonne Bombard

Evdokia Anagnostou

Mark Tarnopolsky

Ronald Cohn

Francois Bernier

Danielle Baribeau

Adam Shlien

Michael Brudno

Ashish Marwaha

Peter Szatmari

Peter Szatmari

Eyal Cohen

Maureen Smith

Ashish Marwaha

Beth Potter

Michael Geraghty

Abdul Noor

Jacqueline Limoges

Eleanor Pullenayegum

Jagdeep Walia

Yiming Wang

Jasmin Bhawra

Jacqueline Limoges