Researcher

Title

• Director, Centre de recherche Azrieli du CHU Sainte-Justine (2017-)
• Professor of Pediatrics and Neurosciences, Université de Montréal

• Postdoctoral fellowship, developmental genetics, Carnegie Institution of Washington/Johns Hopkins University, Baltimore, USA
• Postdoctoral fellowship, developmental biology, Collège de France and Centre national de la recherche scientifique. Paris, France
• Medical degree, Université de Montréal

My research interests are centered on the genetics of neuro-developmental disorders, including intellectual disability, autism and epilepsy. We are using genomic approaches to identify novel genes associated with these disorders. We also aim to study the function of some of these genes in cellular and animal models with the goal of developing therapeutic strategies. 

In parallel, my group is studying the use of genomic sequencing for the clinical investigation of rare disorders in the context of Centre québécois de génomique clinique (hosted at CHU Sainte-Justine). More specifically, we aim to evaluate the impact of these analyses on the investigation of specific groups of disorders and to define the optimal modalities of their use in clinical settings.

Publications

1. Uguen K, Frey T, Muthaffar O, Décarie JC, Ameziane N, Boissel S, Oprea G, Rad A, Steindl K, Michaud JL. (2024). Loss of tissue-type plasminogen activator causes multiple developmental anomalies. Brain Communications, 6:fcae408.
2. Jadhav V, Carreno-Munoz M, Chehrazi P, Michaud JL*, Chattopadhyaya B*, Di Cristo G*. (2024). Syngap1 haploinsufficiency in developing cortical GABAergic neurons impairs auditory stimuli processing, social behavior and cognitive flexibility. Journal of Neuroscience, 44:e0946242024.
3. Fehlings DL, Zarrei M, Engchuan W, Sondheimer, N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S, Switer L, Ng P, Wei J, Danthi PS, Pellecchia G, Lamoureux S, Ho K, Pereira SL, de Rijke J, Sung WWL, Mowjoodi A, Howe J, Nalpathamkalam T, Manshaei R, Ghaffari S, Whitney J, Patel RV, Hamdan O, Shaath R, Trost B, Knights S, Samdup D, McCormick A, Hunt C, Kirton A, Kawamura A, Mesterman R, Gorter JW, Dlamini N, Merico D, Hilali M, Hirschefeld K, Grover K, Baustista NX, Marshall C, Yuen, RKC, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes T, Simons E, Maxwell G, Shevell M, Costain G, Michaud JL, Hamdan FF, Gauthier J, Uguen K, Stavropoulos DJ, Wintle RF, Oskoui M, Scherer, SW. (2024). Comprehensive Whole-Genome Sequence Annotation to Elucidate the Genetic Architecture Cerebral Palsy. Nature Genetics, 56:585-594.
4. Khlaifia A, Jadhav V, Danik M, Badra T, Berryer M, Dionne-Laporte A, Chattopadhyaya B, Di Cristo G, Lacaille JC, Michaud JL. (2023). Syngap1 disruption induced by recombination between inverted loxP sites is associated with hippocampal interneuron dysfunction. eNeuro, 10:ENEURO.0475-22.2023.
5. Caron V, Chassaing N, Ragge N, Boschann F, My-Hoa Ngu A, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen AM, Serrano Russi A, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid BM, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan FF, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont ML, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Geneviève D, Chartron N, Schluth-Bolard C, Meyers KA, Dobyns WB, Calvas P, the DDD Study, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A, Michaud JL. (2023). Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta, Genetics in Medicine, 25:100856.
6. Bouasker S, Patel N, Greenlees R, Wellesley D, Fare Taie L, Baptista J, Boissel S, Martinovic J, Prokudin I, Riley LG, Nassif C, Attie-Bitach T, Miguet M, Plaisancié J, Calvas P, Rouleau GA, Khan AO, Hamdan FH, Jamieson RV, Alkuraya FS*, Michaud JL*, Chassaing N*. (2023). Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans. Journal of Medical Genetics, 60:294-300.
7. Carreño-Muñoz MI, Chattopadhyaya B, Agbogba K, Côté V, Wang S, Lévesque M, Avoli M, Michaud JL, Lippé S, Di Cristo G. (2022). Sensory processing dysregulations as reliable translational biomarkers in SYNGAP1 haploinsufficiency. Brain, 145:754-769.
8. Son JE, Dou Z, Wanggou S, Chan J, Mo R, Li X, Huang X, Kim K-H, Michaud JL, Hui CC. (2021). Ectopic misexpression of Irx3 and Irx5 in the paraventricular nucleus of the hypothalamus contributes to defects in Sim1 haploinsufficiency. Science Advances, 7: eabh4503.