Jacques L. Michaud

Population-scale genome-wide prioritization of targets for allele-specific antisense oligonucleotide therapy design

This paper identifies population-scale SNV targets for allele-specific ASO therapy design, achieving high coverage across diverse ancestry groups and supporting clinical relevance.

Compromised striatal structure and function in mouse models of RARB-related disorder

This study investigates RARB-RD mouse models and finds that both GOF and DN variants compromise striatal structure and function, with transcriptional effects more severe than a null allele.

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

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

This study investigates how Syngap1 haploinsufficiency in GABAergic interneurons affects synaptic and intrinsic properties in mouse auditory cortex, linking these changes to auditory processing deficits in SYNGAP1-ID.

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

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

Unraveling the role of non-coding rare variants in epilepsy

This study investigates the association between rare non-coding deleterious variants and epilepsy, finding a significant link with genetic generalized epilepsy (GGE) but not with non-acquired focal epilepsy (NAFE).

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

This study assesses CNV burden and segregation in epilepsy patients and controls, finding enrichment of large deletions in genetic generalized epilepsies but no support for unmasked variants or double CNVs explaining incomplete penetrance.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

Sensory processing dysregulations as reliable translational biomarkers in SYNGAP1 haploinsufficiency

This study identifies sensory processing dysregulations in SYNGAP1 haploinsufficiency in mice and humans, suggesting they as potential translational biomarkers.

Global prevalence of potentially pathogenic short-tandem repeats in an epilepsy cohort

The paper identifies a potential pathogenic STR expansion in an epilepsy cohort using whole genome sequencing and three software tools, highlighting discrepancies in variant calling.

Polygenic risk scores of several subtypes of epilepsies in a founder population

The paper calculates polygenic risk scores for epilepsy subtypes in a French-Canadian cohort and finds they provide reliable genetic contribution estimates, though clinical use requires further study.

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

This study uses whole-genome sequencing and a new algorithm to comprehensively characterize copy number variants in epilepsy patients and controls, finding enrichment of rare exonic and non-coding variants.