Faculty profile

David Dyment

ResearcherUniversity of Ottawa

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a University of Ottawa directory, so their courses and email address may be missing. Find their university profile.

David Dyment

Researcher

Health Sciences

University of Ottawa

Ottawa, Ontario, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
15 publications in the last five years, latest in 2026.
Principal investigator on 2 research grants (2 CIHR), most recently in 2012.

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

Publications

161

Citations

h-index

Collaborators

Grants

Publications by year

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

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Signals and details

Research

Channelopathies Epilepsy Idiopathic Generalized Epilepsy Next Generation Sequencing

Latest papers

The personal utility of genetic testing in children with epilepsy.
Journal of genetic counseling · 2026
Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.
Frontiers in cell and developmental biology · 2026
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity.
Genetics in medicine : official journal of the American College of Medical Genetics · 2025

All 30 publications

Latest funding

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Development and validation for neonatal intensive care
CIHR · 2024 · Co-investigator
$248,625
A Canadian knowledge-to-action roadmap for evidence-informed implementation of first-tier clinical genome-wide sequencing for rare disease (K2A-RD)
CIHR · 2023 · Co-investigator
$1,374,619
Engaging patients with rare diseases in research to improve their care
CIHR · 2016 · Co-investigator
$23,654

All 5 grants and awards

30 publications.

The personal utility of genetic testing in children with epilepsy.

Gupta S, Leduc-Pessah H, Barrowman N, Tsampalieros A, Newhook D, Dyment D, Pohl D

Journal of genetic counseling2026

DOI: 10.1002/jgc4.70176 PMID: 41633343

Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.

van der Laan L, Zwart R, Venema A, Mul AN, Haagmans MA, Hulsbosch B, Dyment D, Valenzuela I, Caro P, Sailer S, Schaaf CP, Sadikovic B, Mannens MMAM, van Haelst MM, Purushothama MK, Henneman P

Frontiers in cell and developmental biology2026

DOI: 10.3389/fcell.2026.1782599 PMID: 41799441

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

Genetics in medicine : official journal of the American College of Medical Genetics2025

DOI: 10.1016/j.gim.2024.101306 PMID: 39489893

Mainstreaming of clinical genetic testing: A conceptual framework.

Mackley MP, Richer J, Guerin A, Caluseriu O, Armstrong L, Blood KA, Bernier F, Boswell-Patterson C, Chard M, Costain G, Dyment D, Eaton A, Faghfoury H, Frosk P, Gillespie MK, Goh ES, Hayeems RZ, Hashemi B, Innes AM, Jackson M, Laberge AM, Limoges J, Marshall C, McMillan H, Nelson TN, Osmond M, Parboosingh J, Penney L, Prince B, Sawyer SL, Siu VM, Thomas MA, Turner L, Villeneuve-Cloutier N, Hartley T, Boycott KM

Genetics in medicine : official journal of the American College of Medical Genetics2025

DOI: 10.1016/j.gim.2025.101465 PMID: 40417744

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

Cuillerier A, Del Gobbo GF, Mackay L, Wall E, Couse M, McDonell LM, Cloutier M, Danzi MC, Warman-Chardon J, Bourque PR, Suchowersky O, Mears A, Seldenthuis L, Mears W, Larrigan L, White-Brown A, Pfeffer G, Bulman DE, Dyment D, Care4Rare Canada Consortium, Boycott KM

Annals of clinical and translational neurology2025

DOI: 10.1002/acn3.70016 PMID: 40191983

Phenotype Spectrum of TRPM3-Associated Disorders.

Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM

Annals of neurology2025

DOI: 10.1002/ana.27141 PMID: 39749750

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S

Nature Genetics202562 citations

DOI: 10.1038/s41588-025-02184-4

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Symonds JD, Park KL, Mignot C, Macleod S, Armstrong M, Ashrafian H, Bernard G, Brown K, Brunklaus A, Callaghan M, Classen G, Cohen JS, Cutcutache I, de Sainte Agathe JM, Dyment D, Elliot KS, Isapof A, Joss S, Keren B, Marble M, McTague A, Osmond M, Page M, Planes M, Platzer K, Redon S, Reese J, Saenz M, Smith-Hicks C, Stobo D, Stockhaus C, Vuillaume ML, Wolf NI, Wakeling EL, Yoon G, Knight JC, Zuberi SM

Epilepsia2024

DOI: 10.1111/epi.18115 PMID: 39348199

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wasserman WW, Houtkooper RH, van Kuilenburg ABP

Genetics in medicine : official journal of the American College of Medical Genetics2024

DOI: 10.1016/j.gim.2024.101104 PMID: 38411040

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK

Genetics in Medicine202410 citations

DOI: 10.1016/j.gim.2023.101012

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David Dyment

Research

Latest papers

Latest funding

The personal utility of genetic testing in children with epilepsy.

Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.

The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity.

Mainstreaming of clinical genetic testing: A conceptual framework.

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

Phenotype Spectrum of TRPM3-Associated Disorders.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Development and validation for neonatal intensive care

A Canadian knowledge-to-action roadmap for evidence-informed implementation of first-tier clinical genome-wide sequencing for rare disease (K2A-RD)

Engaging patients with rare diseases in research to improve their care

Understanding the molecular basis of genetic epilepsy

Understanding the molecular etiology of idiopathic generalized epilepsy

Frequent collaborators

Bekim Sadikovic

Taila Hartley

Jodi Warman Chardon

Rosanna Weksberg

Lauren Chad

Daniela Pohl

Gregory Costain

Mark Tarnopolsky

Anne Junker

Bartha Knoppers

Jean-Yves Masson

Zoha Kibar

Catharine Rankin

Paul Pavlidis

Philip Hieter

Philippe Campeau

Mary-Ellen Harper

Marc Ekker

Jacek Majewski

Ronald Cohn

Pranesh Chakraborty

Chumei Li