Faculty profile

Greg Costain

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Assistant ProfessorDepartment of PaediatricsUniversity of Toronto

Greg Costain

Assistant Professor

Department of Paediatrics

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
108 publications in the last five years, latest in 2026.
Senior (last) author on 25 recent papers, a sign of leading a research group.

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

Academic metrics

186

Publications

6,012

Citations

179

Collaborators

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

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Signals and details

Research

Read how they describe their research on their University of Toronto profile.

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
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Brain : a journal of neurology · 2026
A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.
Genetics in medicine : official journal of the American College of Medical Genetics · 2026

All 186 publications

From the 150 most recent of 186 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 Genetics20264 citations

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

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E

Brain : a journal of neurology20264 citationsOpen Access

DOI: 10.1093/brain/awaf212 PMID: 40494548

A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.

Ungar WJ, Wu V, Marshall CR, Hwang J, Hayeems RZ, Tsiplova K, Gillespie MK, Szuto A, Chisholm C, Stavropoulos DJ, Venkataramanan V, Xiao B, Costain G, Bergeron MB, Sawyer S, Lau L, Huang L, Mendoza-Londono R, Somerville MJ, Boycott KM, GSO Study Team

Genetics in medicine : official journal of the American College of Medical Genetics20262 citationsOpen Access

DOI: 10.1016/j.gim.2025.101561 PMID: 40852796

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Nguyen JNH, Lachgar-Ruiz M, Higginbotham EJ, Coleman M, Coleman J, Shao W, Scotchman E, Pritchard AJ, Bell KM, Chitty LS, Christodoulou J, De Fazio P, Deshwar AR, Eltze C, Griffiths AJS, Hassell J, Jain P, Kaliakatsos M, Liang NSY, Lombard P, Marshall CR, Marx C, McRae L, Mulhern S, Paternoster B, Perez Caballero A, Pipko N, Sidhu J, Smith L, Stark Z, Trost B, Wakeling E, White SM, Yoong M, Gene-STEPS Study Group, IPCHiP Executive Committee,, Chandler NJ, Cross JH, Scheffer IE, Chau V, Poduri A, Howell KB, Stephenson SEM, McTague A, Costain G, D'Gama AM

Neurology20261 citationsOpen Access

DOI: 10.1212/wnl.0000000000214645 PMID: 41687048

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.

Murthy H, Hoang N, Stark JC, Cui S, Pannia E, Tsoi CT, Harris S, Ceolin C, Verhaeghe L, Scholten S, Baribeau D, Summers J, Costain G, Selvanayagam T, Howe JL, Lewis MES, Brunet T, Rieger S, Rosenfeld JA, Craigen WJ, Burrage LC, Christie MR, Baldwin D, Wentzensen IM, Keren B, Cogne B, Isidor B, Afenjar A, Elshafie RM, Bastaki L, Alkanderi S, Myers KA, Demarest S, Angione K, Abbott M, Campeau PM, Dowling JJ, Mendoza-Londono R, Scherer SW, Deshwar AR, Vorstman J

Brain : a journal of neurology20261 citationsOpen Access

DOI: 10.1093/brain/awaf273 PMID: 40717498

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

Epilepsia2026Open Access

DOI: 10.1002/epi.70253 PMID: 41999155

Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development

Emilio Dirk Raymond Oriole Harris-Mostert, Annelot C. M. van Esbroeck, David Cheerie, Kai Lee Yap, Christiana Wang, Rosan Lechner, Nicole Nolen, Danique Beijer, Gregory Costain, Andrea Dardis, Alissa M. D’Gama, Samuel G. Finlayson, Charu Kaiwar, P F Liu, Jangsup Moon, Ana Lisa Taylor Tavares, Ella F. Whittle, Haiyan Zhou, Nicola Brunetti‐Pierri, Keri Callegari, Maya Chopra, Brian Chung, Hormos Salimi Dafsari, Elena Gardella, Matthias Kettwig, Lucia Laugwitz, A K Mansfield, Ryan Marks, Julian W. März, Maureen A. McCall, et al. (36 authors)

Zenodo (CERN European Organization for Nuclear Research)2026Open Access

DOI: 10.5281/zenodo.20669131

Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development

Zenodo (CERN European Organization for Nuclear Research)2026Open Access

DOI: 10.5281/zenodo.20669130

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 authorOpen Access

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

A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases

Logan Newton, Bushra Haque, David Cheerie, Chung Ting Tsoi, Conor Klamann, Rebecca Sakaki, Thomas Qu, Lauren Verhaeghe, Yijing Liang, Ryan M. Marks, Evgueni A. Ivakine, Ashish R. Deshwar, Gregory Costain

medRxiv2026Senior authorOpen Access

DOI: 10.64898/2026.07.29.26359175

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

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Greg Costain

Research

Latest papers

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

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.

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

Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development

Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development

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

A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases

Frequent collaborators

Gregory Costain

Christian Marshall

Anne Bassett

Stephen Scherer

Robin Hayeems

Ronald Cohn

Lauren Chad

Jacob Vorstman

Roberto Mendoza-Londono

Vann Chau

James Dowling

Eriskay Liston

Danielle Baribeau

Wendy Ungar

Rosanna Weksberg

Kym Boycott

Brett Trost

Nancy Butcher

Grace Yoon

Michael Brudno

Taila Hartley

Puneet Jain

Michal Inbar-Feigenberg

Neal Sondheimer

Hernan Gonorazky

Carolina Gorodetsky

Rayfel Schneider

Catherine Diskin

Earl Silverman

Natalie Jewitt

Anne Kawamura

Shannon Knights

Elena Pope

Janine Flanagan