Alexandre Mathieu

LEAP-InovAND a multiscale resource to explore genetics, brain imaging and clinical data in autism

The paper introduces a multiscale resource integrating genetics, brain imaging, and clinical data from autistic individuals and their relatives to explore genetic and neurobiological patterns in autism.

Sub-diagnostic effects of genetic variants associated with autism

The paper maps the odds ratio for autism associated with rare LoF variants in autism-associated genes and shows sub-diagnostic effects in undiagnosed individuals.

Both rare and common genetic variants contribute to autism in the Faroe Islands

This study identifies both rare and common genetic variants contributing to autism in the Faroe Islands by analyzing SNP array and whole exome sequencing data from 357 individuals.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.