Faculty profile

Francois Bernier

ResearcherCell Biology and AnatomyUniversity of Calgary

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

Francois Bernier

Researcher

Cell Biology and Anatomy

Health Sciences

University of Calgary

Calgary, Alberta, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
8 publications in the last five years, latest in 2026.
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.

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Publications

Citations

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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

3d Facial Imaging Connective Tissue Deep Phenotyping Disease Stratification Genetic Disease Heritable Thoracic Aortopathies Loeys-Dietz Syndrome Marfan Syndrome

Latest papers

Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.
Genetics in medicine : official journal of the American College of Medical Genetics · 2026
Climate change health impacts on children in Canada: a systematic review.
BMJ paediatrics open · 2026
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort.
Genetics in medicine : official journal of the American College of Medical Genetics · 2026

All 16 publications

Latest funding

Connective Tissue Syndromes and the Genetics of Aortopathy
CIHR · 2024 · Principal investigator
$1,071,000
The Pan-Canadian Genome Library (PCGL)
CIHR · 2023 · Co-investigator
$14,940,000
RAre Disease Administrative Data Research (RADAR) Team: putting the health system impact of rare diseases on the radar
CIHR · 2023 · Principal investigator
$1,598,238

All 10 grants and awards

16 publications.

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

Climate change health impacts on children in Canada: a systematic review.

Helldén D, Sjonnesen K, Virla LD, Harper SL, Bernier F, Bryant S, Hallgrímsson B

BMJ paediatrics open2026

DOI: 10.1136/bmjpo-2026-004559 PMID: 42763105

A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort.

Shickh S, Fooks K, Venkataramanan V, Acker M, MacDonald KV, Seeger TA, Gillespie M, Hartley T, Care4Rare Canada Consortium, Boycott KM, Bernier F, Marshall DA, Hayeems RZ

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

DOI: 10.1016/j.gim.2026.101684 PMID: 41527898

To test or not to test? Study protocol for a best-worst scaling to understand decision-making and preferences for genetic testing in moderate-risk individuals.

Oedingen C, Hua N, MacDonald KV, Marcadier J, Perrier R, Tuer L, McInnes B, Bernier F, Marshall DA

PloS one2025

DOI: 10.1371/journal.pone.0339696 PMID: 41460858

The evolution of health data ecosystems: An international survey.

Lerner-Ellis JP, Price EM, Subhani S, Boughtwood T, Brion MJ, Rendon A, Cividanes L, Gemmer J, Ciofani D, Bertin N, Wee SS, Robertson S, Baz B, Crameri K, Österle S, Wirta V, Sikora P, Lindstrand A, Nowak F, Amado I, Mulder NJ, Ganna A, Goodhand P, Smith LD, Marshall CR, Zawati M, Ferretti V, Michaud JL, Bulman D, Bernier F, Boycott KM

American journal of human genetics2025

DOI: 10.1016/j.ajhg.2025.06.017 PMID: 40695271

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

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

BMJ open2024

DOI: 10.1136/bmjopen-2024-090084 PMID: 39231549

Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation.

Hayeems RZ, Bernier F, Boycott KM, Hartley T, Michaels-Igbokwe C, Marshall DA

BMJ open2022

DOI: 10.1136/bmjopen-2022-061468 PMID: 36216418

Correction to: 2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Kalashnikova T, Wright N, Midgley J, Bernier F, Luider J, Murguia-Favela L

Journal of clinical immunology2020

DOI: 10.1007/s10875-020-00818-2 PMID: 32653965

Validation of Dried Blood Spots for Maternal Biomonitoring of Nonessential Elements in an Artisanal and Small-Scale Gold Mining Area of Tanzania.

Nyanza EC, Dewey D, Bernier F, Manyama M, Hatfield J, Martin JW

Environmental toxicology and chemistry2019

DOI: 10.1002/etc.4420 PMID: 30900767

Connective Tissue Syndromes and the Genetics of Aortopathy

Principal investigatorCIHR2024Project Grant

Principal investigators: Hallgrimsson, Benedikt; Bernier, Francois P; Claes, Peter; Marcucio, Ralph S; McBride, Kim

Keywords: 3d Facial Imaging; Connective Tissue; Deep Phenotyping; Disease Stratification; Genetic Disease; Heritable Thoracic Aortopathies; Loeys-Dietz Syndrome; Marfan Syndrome; Morphometrics; Penetrance And Expressivity

$1,071,000

The Pan-Canadian Genome Library (PCGL)

Co-investigatorCIHR2023Team Grant: Pan-Canadian Human Genome Library

Principal investigators: Bourque, Guillaume; Boycott, Kym M; Scherer, Stephen W; Bhérer, Claude; Brazas, Michelle D; Brudno, Michael; Caron, Nadine R; Courtot, Mélanie; Ferretti, Vincent; Joly, Yann; Jones, Steven; Lerner-Ellis, Jordan P; Stedman, Ian; Stein, Lincoln; Wasserman, Wyeth W; Zawati, Ma'n Hilmi M.

Keywords: Clinical Trials; Data Diversity; Data Standards; Database; Federated Network; Genetic Variants; Genetics; Genomics; Human Genomes; Portals

$14,940,000

RAre Disease Administrative Data Research (RADAR) Team: putting the health system impact of rare diseases on the radar

Principal investigatorCIHR2023Team Grant: Improving Health and Admin Data and Monitor Rare Diseases

Principal investigators: Marshall, Deborah A; Baribeau, Danielle A; Bernier, Francois P; Stedman, Ian

Keywords: Administrative Data; Rare Disease

$1,598,238

RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network

Principal investigatorCIHR2023Team Grant: Pediatric Rare Disease Clinical Network

Principal investigators: Lacaze-Masmonteil, Thierry; Anagnostou, Evdokia; Baribeau, Danielle A; Batthish, Michelle; Bernard, Geneviève; Bernier, Francois P; Butcher, Nancy J; Campbell, Craig Gordon N; Cross, Andrea; Dyack, Sarah; Gantt, Soren M; Gravel, Christopher; Haddad, Elie; Heath, Anna; Kelly, Lauren; King, Alexandra; Klassen, Terry P; Knisley, Lisa; Lai, Meng-Chuan; Lewis, Tamorah R; Marwaha, Ashish K; McBride, Kim; Mitchell, John J; Moore Hepburn, Charlotte; Mooser, Vincent E; Myers, Kenneth A; Offringa, Martin; Oskoui, Maryam; Portales-Casamar, Elodie; Pot, Sara; Potter, Elizabeth K; Richer, Lawrence P; Round, Jeff; Stewart, Breanne; Subbarao, Padmaja; Thebaud, Bernard; Turvey, Stuart E; Ward, Leanne M; Wong-Rieger, Durhane; Wright, Nicola A; Yeh, Ann E.

Keywords: Child Health; Data Science; Drug Development; Paediatric Clinical Research Units; Paediatric Clinical Trials; Patient And Public Involvement; Patient Registries; Precision Medicine; Rare Diseases; Real-World Evidence

$19,999,843

Let's Start Counting (and make it count)! A scoping review of the socioeconomic burden of rare genetic diseases

Co-investigatorCIHR2019Knowledge Synthesis Grant: Socio-Economic Burden of Inherited Disease

Principal investigators: Marshall, Deborah A; Lorenzetti, Diane

Keywords: Burden Of Illness; Rare Genetic Disease; Scoping Review; Socioeconomic Costs

$99,545

Advancing Concussion Assessment and Treatment in Children and Youth

Co-investigatorCIHR2014Foundation Grant

Principal investigators: Yeates, Keith O

Keywords: Concussion; Diagnosis; Mild Traumatic Brain Injury; Treatment

$3,717,141

A Multidisciplinary Approach To Target Chronic Inflammation Of The Gut, Liver And Joint.

Co-investigatorCIHR2013Team Grant: Health Challenges in Chronic Inflammation Initiative - (Full Appl)

Principal investigators: Eksteen, Johannes A

Keywords: Genetics; Gut Permeability; Inflammatory Bowel Disease; Innate Immunity; Personalized Medicine; Primary Sclerosing Cholangitis; Rheumatoid Arthritis

$2,443,500

Finding of Rare Disease Genes in Canada (FORGE CANADA)

Co-investigatorCIHR2010Advancing Technology Innovation Through Discovery

Principal investigators: Boycott, Kym M; Friedman, Jan M; Michaud, Jacques L

Keywords: Gene Identification; Mendelian Disorders; Rare Disease

$1,225,000

Development of a conception cohort to study the utilization of prenatal screening

Co-investigatorCIHR2008Catalyst Grant: Maternal and Child Health

Principal investigators: Lyon, Andrew W; Tough, Suzanne C

Keywords: Administrative Data; Database Linkage; Health Services Research; Pregnancy; Prenatal Screening; Survival Analysis

$25,000

CIHR Training Program in Genetics, Child Development and Health

Co-investigatorCIHR2008Training Grant

Principal investigators: Gravel, Roy A

Keywords: Congenital Anomalies; Developmental Biology; Genetics; Metabolism; Neurobiology; Reproduction

$1,950,000

From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.

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Francois Bernier

Research

Latest papers

Latest funding

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

Climate change health impacts on children in Canada: a systematic review.

A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort.

To test or not to test? Study protocol for a best-worst scaling to understand decision-making and preferences for genetic testing in moderate-risk individuals.

The evolution of health data ecosystems: An international survey.

Mainstreaming of clinical genetic testing: A conceptual framework.

Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.

Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation.

Correction to: 2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Validation of Dried Blood Spots for Maternal Biomonitoring of Nonessential Elements in an Artisanal and Small-Scale Gold Mining Area of Tanzania.

Frequent collaborators

Taila Hartley

Gregory Costain

Anne-Marie Laberge

Jocelyn Gravel

Eriskay Liston

Jacqueline Limoges

Tracy Stockley

Michael Brudno

Emily Seto

Deborah Dewey

Clara van Karnebeek

Kevin Thorpe

Carolyn Emery

Christian Beaulieu

Jordan Lerner-Ellis

Wendy Ungar

Catherine Lebel

Yvonne Bombard

Jacek Majewski

Tyler Williamson

Miriam Beauchamp

Vincent Ferretti

Angelo Mikrogianakis

Ronald Cohn