Martineau Jean‐Louis

gVCF2CNV: a scalable pipeline for CNV detection from whole-genome sequencing data

gVCF2CNV converts gVCF files into CNV-compatible signals for large-scale WGS cohorts, achieving high precision in detecting deletions and duplications.

MCNV2 (Mendelian CNV Validation): Mendelian Precision for CNV quality assessment

MCNV2 assesses CNV quality using Mendelian Precision, offering tools to compute, explore, and optimize CNV call accuracy in parent-offspring trios.

Integrating genomic variants and developmental milestones to predict cognitive and adaptive outcomes in autistic children

The paper develops predictive models for intellectual disability in autistic children by integrating genetic variants and developmental milestones, achieving an AUC ROC of 0.65 and identifying 10% of ID cases.

Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes

The paper identifies a CNV duplication associated with higher cognitive ability and shows gene-dosage effects differ between deletions and duplications across biological processes.

Copy number variants differ in frequency across genetic ancestry groups

The paper examines CNV frequency differences across genetic ancestry groups and finds lower prevalence of deleterious CNVs in non-European ancestry groups.

High-effect gene-coding variants impact cognition, mental well-being, and neighborhood safety substrates in brain morphology

The paper investigates the impact of rare high-effect genetic variants on brain morphology and related behavioral traits in adolescents using the ABCD cohort.

Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability

This study shows that rare CNVs and PRS-IQ increase ASD risk independently of their effects on cognitive ability, suggesting ASD risk and cognitive ability are distinct outcomes of these variants.

Using rare genetic mutations to revisit structural brain asymmetry

The paper investigates how rare genetic mutations affect brain asymmetry by analyzing CNVs in a cohort of individuals and linking genetic alterations to brain structure and function.

Exploring the common genetic architecture of autism spectrum disorder using a novel multi-polygenic risk score approach

The paper introduces a multi-polygenic risk score approach to study ASD's genetic architecture, finding that multi-PRSs capture similar risk as traditional PRS-ASD but reveal developmental mirroring effects.

Subcortical brain alterations in carriers of genomic copy number variants

This study examines subcortical brain alterations in CNV carriers across multiple neuropsychiatric disorders, finding shared and distinct patterns of structural changes.

Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances

The paper investigates how copy number variants in circadian pathway and insomnia risk genes contribute to ASD risk and sleep disturbances in children with ASD.

Rare CNVs and phenome-wide profiling: a tale of brain-structural divergence and phenotypical convergence

The paper investigates how eight rare CNVs affect brain structure and phenotypes across 534 carriers, finding structural divergence and phenotypic convergence despite different genetic origins.

Atlas of functional connectivity relationships across rare and common genetic variants, traits, and psychiatric conditions

The paper examines how rare and common genomic variants affect brain functional connectivity, revealing how polygenicity and pleiotropy influence psychiatric conditions and brain networks.

The general impact of haploinsufficiency on brain connectivity underlies the pleiotropic effect of neuropsychiatric CNVs

Neuropsychiatric CNVs reorganize brain connectivity along shared patterns linked to cognitive traits and disorder severity.

Effects-sizes of deletions and duplications on autism risk across the genome

The paper estimates the effect sizes of deletions and duplications on autism risk and IQ using statistical models applied to CNV data from multiple cohorts.

Neuropsychiatric copy number variants exert shared effects on human brain structure

The paper examines the effects of neuropsychiatric CNVs on brain structure using neuroimaging data and identifies shared anatomical patterns across multiple CNVs.

Genome wide analysis of gene dosage in 24,092 individuals shows that 10,000 genes modulate cognitive ability

The paper quantifies the effect of copy number variants on cognitive ability using genomic data from 24,092 individuals, finding that 10,000 genes modulate intelligence.