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Isabelle De Bie

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Clinical Assistant ProfessorDepartment of Human GeneticsMcGill University

Isabelle De Bie

Clinical Assistant Professor

Department of Human Genetics

Faculty of Medicine and Health Sciences

McGill University

Montreal, Quebec, Canada

Supervision signals

Clinical faculty often co-supervise; many graduate programs need a core faculty member as the main supervisor.
11 publications in the last five years, latest in 2026.
Senior (last) author on 2 recent papers, a sign of leading a research group.

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Academic metrics

Publications

512

Citations

Collaborators

Publications by year

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

Profiles and links

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Signals and details

Research

Read how they describe their research on their McGill University profile.

Latest papers

The Patient-reported Genetic testing Utility InDEx: A novel measure of personal utility.
Genetics in medicine : official journal of the American College of Medical Genetics · 2026
Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.
Journal of medical genetics · 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Nature communications · 2025

All 17 publications

17 publications.

The Patient-reported Genetic testing Utility InDEx: A novel measure of personal utility.

Poole E, Xiao B, Luca S, Assamad D, Abbott LS, Armstrong L, Boycott KM, Carroll JC, Chad L, De Bie I, Denburg A, Deyell RJ, Elliott AM, Goudie C, Laberge AM, Mucha BE, Peltekova IT, Quinlan B, Sawyer SL, Smith M, Villani A, Ungar WJ, Hayeems RZ, P-GUIDE Study Team

Genetics in medicine : official journal of the American College of Medical Genetics2026Open Access

DOI: 10.1016/j.gim.2026.102670 PMID: 42554147

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

Aul RB, Canales KE, De Bie I, Laberge AM, Langlois S, Nelson TN, Walji S, Yu AC, Lazier J, Canadian College of Medical Geneticists, Canadian College of Medical Geneticists

Journal of medical genetics20253 citationsOpen Access

DOI: 10.1136/jmg-2025-110871 PMID: 40850740

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Küry S, Stanton JE, van Woerden GM, Bosc-Rosati A, Hsieh TC, Bray L, Oloudé M, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel FG, Wolfgramm S, Florenceau L, Cuinat S, Marsac S, Verrès Y, Dangoumau A, Poirier L, Wentzensen IM, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter MS, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson LC, Costin C, Abdulrazak A, Jobling RK, Pappas J, Rabin R, Niyazov D, Chun-Hui Tsai A, Kovak K, Beck DB, Malicdan MCV, Adams DR, Wolfe L, Ganetzky RD, Muraresku CC, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Saif HA, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton MJ, Bryson LJ, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Langas SJ, McRae AM, Lessard MK, D'Agostino MD, De Bie I, Wegler M, Abou Jamra R, Kamphausen SB, Bothe V, Potocki L, Olinger E, Sznajer Y, Wiame E, Thompson ML, Schroeder MC, Gooch C, Smith RA, Pandya A, Busch LM, Völker U, Hammer E, Wende K, Cogné B, Isidor B, Meiler J, Ripoll C, Bigou S, Laumonnier F, Hildebrand PW, Eichler EE, McWalter K, Krawitz PM, Roux-Dalvai F, Elgersma Y, Marcoux J, Bousquet MP, Droit A, Poschmann J, Grabrucker AM, Bolduc FV, Bézieau S, Ebstein F, Krüger E

Nature communications20253 citationsOpen Access

DOI: 10.1038/s41467-025-65556-8 PMID: 41298377

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

McAdam A, Ito YA, Richard M, Spiegelman D, Rochefort D, Xiong L, Oskoui M, Zielinski D, Rouleau GA, Zhou S, Care4Rare Canada Consortium, Boykott KM, De Bie I

American journal of medical genetics. Part A2025Open Access

DOI: 10.1002/ajmg.a.63974 PMID: 39713852

De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies.

Torti E, Mullegama SV, De Bie I, Mercier A, Carere DA, Folk L, Juusola J, Monaghan KG, Wentzensen IM, Redlich OL, Reich A, McGivern B

HGG advances2025

DOI: 10.1016/j.xhgg.2025.100421 PMID: 40012205

PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.

White-Brown AM, Richard M, Morency AM, Maedler-Kron C, De Bie I

American journal of medical genetics. Part A2025Senior author

DOI: 10.1002/ajmg.a.63865 PMID: 39215506

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G

Journal of medical genetics202310 citationsOpen Access

DOI: 10.1136/jmg-2023-109223 PMID: 37197783

A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case.

Larouche V, Paré MF, Grenier PO, Wieckowska A, Gagné E, Laframboise R, Jabado N, De Bie I

Current oncology (Toronto, Ont.)20231 citationsSenior authorOpen Access

DOI: 10.3390/curroncol30100649 PMID: 37887549

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency.

Dubucs C, Aziza J, Sartor A, Heitz F, Sevely A, Sternberg D, Jardel C, Cavallé-Garrido T, Albrecht S, Bernard C, De Bie I, Chassaing N

Molecular syndromology2023

DOI: 10.1159/000526022 PMID: 37064341

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Delanne J, Lecat M, Blackburn PR, Klee EW, Stumpel CTRM, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner SA, Lyons MJ, Pöe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C

European journal of medical genetics2023

DOI: 10.1016/j.ejmg.2022.104670 PMID: 36414205

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

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Isabelle De Bie

Research

Latest papers

The Patient-reported Genetic testing Utility InDEx: A novel measure of personal utility.

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies.

PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case.

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Frequent collaborators

Marilyn Richard

Geneviève Bernard

Anne-Marie Laberge

Kym Boycott

Yannis Trakadis

Stella Drury

Anita Villani

Stéphanie Fox

Pierre Allard

Greg Costain

Nancy Braverman

Indra Gupta

Wendy Ungar

Arnaud Droit

Guy Rouleau

Philippe Campeau

Bernard Brais

Elsa Rossignol

Robin Hayeems

Maryam Oskoui

Valérie Larouche

Alison Elliott

Catherine Goudie

Francois Bolduc

Avram Denburg

Lauren Chad

Rebecca Deyell