Raphael Bernier

The paper investigates altered aperiodic EEG spectral power during speech perception in youths with ASD, linking increased neural noise to lower verbal communication skills.

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

The paper introduces a novel metric, estimated axonal latency, to measure neuronal processing speed in autism spectrum disorder using MRI and EEG data.

The paper investigates family-specific contributions to de novo mutations and finds that stochasticity explains most of the variation.

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

The paper shows reduced neural suppression in ASD using fMRI and behavioral tasks, but finds no difference in GABA levels, suggesting top-down processing differences rather than inhibitory neurotransmitter deficits.

The paper assesses the test-retest reliability of EEG PSD profiles in children with ASD and TD controls using two analytical approaches, showing stable individual signatures across sessions.

The paper identifies two methylation-based episignatures in ADNP syndrome but finds limited correlation with clinical phenotypes.

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

The paper identifies ultra-rare inherited mutations that are younger and preferentially transmitted to autism probands, revealing novel candidate genes and functional networks.

The paper investigates how BOLA2 duplication in chromosome 16p11.2 affects iron homeostasis and anemia risk in autism patients, finding associations with anemia and iron deficiency.

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.

The paper identifies over 100 genes linked to intellectual disability and autism that regulate habituation learning, revealing opposing roles for Ras-MAPK signaling in inhibitory and excitatory neurons.

The paper links glutamate levels in the MT region to enhanced fMRI responses and better motion perception performance in humans.

This study shows reduced neural adaptation in autism spectrum disorder (ASD) across cortical areas, correlating with reaction times, suggesting dysregulated neural excitation.

The paper investigates neural suppression and facilitation using multiple methods and finds they can arise from a single computational principle, not separate mechanisms.

The paper investigates exonic mosaic mutations in autism spectrum disorder (ASD) using whole-exome sequencing data from the Simons Simplex Collection, finding significant synonymous SMM burden and enrichment in chromatin modifiers.