Jacques L. Michaud

Montreal, QC H3T1C5, Canada

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 98 publications

Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex.

Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex.

Journal: eLife

Published: August 14, 2025

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.

Journal: HGG advances

Published: July 16, 2025

Cost analysis of hospitalized children suspected of rare genetic diseases.

Cost analysis of hospitalized children suspected of rare genetic diseases.

Journal: Orphanet journal of rare diseases

Published: July 04, 2025

The evolution of health data ecosystems: An international survey.

The evolution of health data ecosystems: An international survey.

Journal: American journal of human genetics

Published: November 13, 2024

Loss of tissue-type plasminogen activator causes multiple developmental anomalies.

Loss of tissue-type plasminogen activator causes multiple developmental anomalies.

Journal: Brain communications

Published: June 20, 2024

Developmental Syngap1 Haploinsufficiency in Medial Ganglionic Eminence-Derived Interneurons Impairs Auditory Cortex Activity, Social Behavior, and Extinction of Fear Memory.

Developmental Syngap1 Haploinsufficiency in Medial Ganglionic Eminence-Derived Interneurons Impairs Auditory Cortex Activity, Social Behavior, and Extinction of Fear Memory.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience

Published: May 17, 2024

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Journal: American journal of human genetics

Published: March 25, 2024

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.

Journal: European journal of human genetics : EJHG

Published: February 22, 2024

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Journal: Pediatric neurology

Published: May 16, 2023

Unraveling the role of non-coding rare variants in epilepsy.

Unraveling the role of non-coding rare variants in epilepsy.

Journal: PloS one

Published: May 15, 2023

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Journal: Nature genetics

Published: December 23, 2022

Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction.

Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction.

Journal: eNeuro

Published: November 21, 2022

Showing 1-12 of 98

Last Updated: 09/26/2026