This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a University of Alberta directory, so their courses and email address may be missing. Find their university profile.
Research
Latest papers
Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome.
Neurology. Genetics · 2026 · senior author
Developing a Chatbot to Support Individuals With Neurodevelopmental Disorders: Tutorial.
Journal of medical Internet research · 2024 · senior author
Specific EEG resting state biomarkers in FXS and ASD
Journal of Neurodevelopmental Disorders · 2024
Latest funding
- $196,900
GeneXchange: Linking Genetic Discovery to Real-World Impact
CIHR · 2025 · Co-investigator
- $19,999,843
RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network
CIHR · 2023 · Co-investigator
- $224,798
Development of diagnostic solutions for neurodevelopmental disorders caused by ubiquitin-proteasome system dysfunction
CIHR · 2022 · Nominated PI
6 publications.
Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome.
Van Steenbergen A, Kaur M, Rubanarayana K, Bolduc F
Developing a Chatbot to Support Individuals With Neurodevelopmental Disorders: Tutorial.
Singla A, Khanna R, Kaur M, Kelm K, Zaiane O, Rosenfelt CS, Bui TA, Rezaei N, Nicholas D, Reformat MZ, Majnemer A, Ogourtsova T, Bolduc F
Specific EEG resting state biomarkers in FXS and ASD
Proteau-Lemieux M, Knoth IS, Davoudi S, Martin C-O, Bélanger A-M, Fontaine V, Côté V, Agbogba K, Vachon K, Whitlock K
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS, Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
GeneXchange: Linking Genetic Discovery to Real-World Impact
Principal investigators: Murias, Kara; Currie, Margaret G; Kelm, Karen
Keywords: Allied Health Professionals; Fragile X; Genetic Counselling; Genomic Medicine; Health Communication; Health Systems Access; Holistic Care; Knowledge Translation; Life-Span Care; Precision Health
RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment 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
Development of diagnostic solutions for neurodevelopmental disorders caused by ubiquitin-proteasome system dysfunction
Principal investigators: Bolduc, François; Droit, Arnaud
Keywords: Drosophila; Genomics; Ipsc; Mice; Neurodevelopmental Disorders; Proteomics; Transcriptomics; Ubiquitination And Proteasome Pathway; Zebrafish
Improving public access to health information and services by leveraging Artificial Intelligence, engagement and multidisciplinary approaches.
Principal investigators: Bolduc, François; Moland, Mark
Keywords: Artificial Intelligence; Chatbot; Ethical And Legal Aspects; Health Literacy; Information Sharing; Misinformation; Public Health Measures
Leveraging the impact of diversity in neurodevelopmental disability by integrating machine learning in personalized interventions.
Principal investigators: Bolduc, François
Keywords: Artificial Intelligence Technologies; Functional Genomics; Genomics; Metabolomics / Metabonomics; Proteomics
Development of an Artifical Intelligence Chatbot supporting coaching and optimal service for individuals with Neurodevelopmental disabilities and their families
Principal investigators: Bolduc, François
Development of an Artificial Intelligence Chatbot supporting coaching and optimal service for individuals with Neurodevelopmental disabilities and their families
Principal investigators: Bolduc, François; Irish, Debbie; Majnemer, Annette; Nicholas, David B; Zaiane, Osmar R
Keywords: Artificial Intelligence; Challenging Behaviour; Chatbot; Database; Neurodevelopment Disorders
Emerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes.
Principal investigators: Rouleau, Guy A
Keywords: Drug Screening; Exome Sequencing; Functional Studies; Gene Identification; Genetic Testing; Hereditary Spastic Paraplegia; Mutation Detection; Standardisation Of Diagnosis
Molecular basis of memory defects in Drosophila Fragile X mutants
Principal investigators: Bolduc, François
Keywords: Behavior Study Of Fragile X Drosophila Model; Genetic Interaction Studies; Genetics Of Learning And Memory; Intellectual Disability; Pharmacological Rescue; Translational Control
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
- Neurology
- Psychology
- Medicine
- Other
Co-authors at University of Alberta, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
David Nicholas
Pediatrics
1 shared papers, latest 2024
Julia Frei
Pediatrics
1 shared papers, latest 2024
Osmar Zaiane
Pediatrics
1 shared papers, latest 2024
Annette Majnemer
Neurology
1 shared papers, latest 2024
Tammie Dewan
Faculty
1 shared papers, latest 2019
Evdokia Anagnostou
Psychology
1 shared papers, latest 2024
Xiang-Jiao Yang
Medicine
1 shared papers, latest 2019
Sarah Lippé
Pediatrics
1 shared papers, latest 2024
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