Researcher

Title

• Director, Centre de recherche Azrieli du CHU Sainte-Justine (2017)
• Professor of Pediatrics and Neurosciences, 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 the context of these functional studies, we are focusing our attention on genes that are involved in the development of neuronal circuits and synaptic plasticity, as these processes are particularly active during childhood and can be modulated by pharmacological agents.

In parallel, my group is studying the use of genomic sequencing for the clinical investigation of rare disorders in the context of the Génome Québec/CHU Sainte-Justine Integrated Center for Clinical Genomics in Pediatrics. 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. Fehlings DL, ... , 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
2. Borroto MC, ... Michaud JL, Hamdam FF, Rossignol E, Campeau PM. (2024). Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated neurodevelopmental disorder. Pediatric Neurology. 160:45-53
3. Girard A, Moreau C, Michaud JL, Minassian B, Cossette P, Girard SL. (2024). Unraveling the role of noncoding rare variants in epilepsy. PLoS One. 18:e0291935.
4. Uguen K, Michaud JL, Génin E. (2024). Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases. European Journal of Human Genetics. 32:1037-1044.
5. Caron V, ... , 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. 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.0475-22.20 
8. 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.
9. Moreau C, Tremblay F, Wolking S, Girard A, Laprise C, Hamdan FF, Michaud JL, Minassian BA, Cossette P, Girard SL. (2022). Assessment of burden and segregation of CNVs in patients with epilepsy.Ann Clin Transl Neurol. 9:1050-1058