Publications

Selected publications

Neuropsychiatric mutations delineate functional brain connectivity dimensions contributing to autism and schizophrenia

16p11.2 and 22q11.2 Copy Number Variants may represent mechanistic building blocks shared across idiopathic conditions.

Differential effects of deletions and duplications on autism risk across the genome

Autism risk conferred by duplications is less influenced by IQ compared to deletions. CNVs increase autism risk similarly in individuals with high and low IQ.

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

All large effect-size voxel-based differences are present at 4.5 years and seem to remain stable until the age of 23.

Projects

Rare genomic variants, brain structure, and functional connectivity

We are investigating the effects of CNVs on neuroanatomical traits such a cortical surface and thickness as well as resting-state fMRI. We are analyzing data from large international cohorts as well as neuroimaging data collected by our lab on individuals who carry rare genomic variants. Our goal is to understand how genomic variants that affect specific biological processes modulate brain architecture.

CNVs, SNVs, and their impact on cognition and risk for autism

We are using rare variants to map the effects of biological processes on cognition, behavior, and risk for psychiatric conditions. We developed MIND·CNV - which is a online tool created to help clinicians and researchers estimate the effect size of CNVs on cognitive ability and risk for autism.

Randomized control trial of metformin in fragile X syndrome.

We are assessing the efficacy of metformin in individuals with Fragile X Syndrome. In particular, effects on language and behavioral outcomes.
Clinical trial link

TACC & Q1K family cohort

The Transforming Autism Care Consortium (TACC) is a research network that connects and mobilizes Quebec’s strengths in autism research. Our main project is the Quebec 1000 families cohort (Q1k) gathering cognitive, behavioral, eye tracking, EEG, and neuroimaging data on 1000 families.

Team

Sebastien Jacquemont

Lab director - Geneticist

Guillaume Huguet

Research associate

Charles-Olivier Martin

Brain Canada manager

Laura Peyras

Lab manager

Marylin Koayes

Genetic counselor

Clara Moreau

Postdoc - Neuroimaging

CNV prediction

This tool was created to help clinicians estimate the potential impact of deletions in the genome (hg19 genomic map) on cognition based on the results of Huguet et al. (JAMA psychiatry 2018).

Try out our tools!