Gail Graham, University of Ottawa

Research

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

Genetics Patient Engagement Quality Improvement Rare Disease Research Priorities

Latest papers

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
American journal of medical genetics. Part A · 2026
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
Genetics in Medicine · 2024
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Human molecular genetics · 2023

All 5 publications

Latest funding

Engaging patients with rare diseases in research to improve their care
CIHR · 2016 · Principal investigator
$23,654

All 1 grants and awards

5 publications.

01

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

Bradbrook SM, Graham G, Carter MT, Kibaek M, Fagerberg C, Larsen MJ, Dawson K, Meuter C, Pepler A, Besnard T, Vincent M, Isidor B, Bezieau S, Cogne B, Bjørgo K, Amundsen SS, Courtin T, Emrick L, Rosenfeld JA, Weisz-Hubshman M, Undiagnosed Diseases Network, Mak BC, Martinez-Agosto J, Heulin M, Morin G, Keren B, Schutz S, Monin P, Pujalte M, Januel L, Lesca G, Valence MB, Margot H, Levy J, Iovino E, Isidori F, Pippucci T, Montanari F, Bell L, Burton J, Torti E, Wentzensen IM, Marcadier J

American journal of medical genetics. Part A2026

DOI: 10.1002/ajmg.a.64242 PMID: 40936200

02

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

03

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D, Undiagnosed Diseases Network, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P

Human molecular genetics2023

DOI: 10.1093/hmg/ddad130 PMID: 37552066

04

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L

Clinical Genetics202315 citations

DOI: 10.1111/cge.14262

05

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

Liu H, Sawyer SL, Gos M, Grynspan D, Issa K, Ramphal R, Rotaru C, FORGE Canada Consortium, Majewski J, Boycott KM, Graham G, Bromwich M

American journal of medical genetics. Part A2015Senior author

DOI: 10.1002/ajmg.a.36969 PMID: 25899773

Engaging patients with rare diseases in research to improve their care

Principal investigatorCIHR2016Patient-Oriented Research Collaboration Grants

Principal investigators: Boycott, Kym M; McGowan-Jordan, Jean; Graham, Gail E

Keywords: Genetics; Patient Engagement; Quality Improvement; Rare Disease; Research Priorities

$23,654

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
Department of Medicine
Li Ka Shing Knowledge
Developmental and Stem Cell Biology
School of Epidemiology and Public Health
Radiology
Computer Science
Other

Applying for

Paper to mention

Subject: Prospective PhD student: Genetics Dear Professor Graham, My name is [your name], and I am a [your current degree or role] at [your institution]. I am applying for a PhD position starting in [term and year]. I read your paper "De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder." (2026), and it connects closely to my own work on [your research topic]. [One or two sentences on what you did and what you learned.] Are you accepting new PhD students for [term and year]? I have attached my CV and transcripts, and I would be glad to talk at a time that suits you. Thank you for your time. Kind regards, [your name]