Eric Courchesne

Profiling brain morphology for autism spectrum disorder with two cross-culture large-scale consortia

This study identifies two ASD subgroups with distinct brain morphology using cross-cultural datasets, highlighting key brain regions associated with subgroup characteristics and autistic traits.

The molecular genetic landscape of human brain size variation

This study identifies 928 genes associated with brain weight variation across three datasets and links them to neurodevelopmental processes and brain function.

DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

This study shows that autism spectrum disorder risk is influenced by rare variants, polygenic risk, and sex, with sex-specific effects on genetic liability and behavioral traits.

Somatic mosaicism in the mature brain reveals clonal cellular distributions during cortical development

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

Disrupted intrinsic connectivity links to language and social deficits in toddlers with autism

The paper examines functional connectivity in toddlers with autism, finding disrupted links between temporal-visual cortex and communication/social abilities, particularly in those with poor social engagement.

Atypical genomic cortical patterning in autism with poor early language outcome

The paper identifies atypical genomic cortical patterning in autistic toddlers with poor early language outcome, linking it to prenatal developmental processes and later functional specialization.

Optimal balancing of clinical factors in large scale clinical RNA-Seq studies

This paper introduces BalanceIT, a method using genetic algorithms to balance clinical factors in RNA-Seq studies, improving differential gene expression and pathway analysis in autism research.

Transfer learning improves outcome predictions for ASD from gene expression in blood

This paper improves ASD outcome prediction from gene expression using transfer learning, achieving a 7.8% AUROC improvement over a naive model.

Multiple freeze-thaw cycles lead to a loss of consistency in poly(A)-enriched RNA sequencing

This study quantifies how repeated freeze-thaw cycles affect RNA-Seq reliability, showing that poly(A)-enriched samples lose reproducibility after three cycles.

Autism genetics perturb prenatal neurodevelopment through a hierarchy of broadly-expressed and brain-specific genes

This study identifies two groups of ASD risk genes—broadly-expressed and brain-specific—that disrupt sequential stages of neurodevelopment through distinct regulatory networks.

A perturbed gene network containing PI3K/AKT, RAS/ERK, WNT/β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity

The paper identifies a perturbed gene network in leukocytes linked to ASD genetics and symptom severity through analysis of transcriptomics data from toddlers.

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

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.

Paternally inherited noncoding structural variants contribute to autism

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

Hierarchical cortical transcriptome disorganization in autism

The paper identifies 10 differentially expressed co-expression modules in ASD cortex, showing coordinated dysregulation of transcriptional programs rather than independent pathways.

Toddlers later diagnosed with autism exhibit multiple structural abnormalities in temporal corpus callosum fibers

The paper identifies structural abnormalities in the temporal corpus callosum fibers of toddlers later diagnosed with autism, showing altered diffusion metrics and correlations with autism severity.

Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder

This study investigates how maternal immune activation (MIA) disrupts fetal brain gene expression in ways relevant to autism spectrum disorder (ASD) pathophysiology, identifying key dysregulated pathways and genes.

Frequency and complexity of de novo structural mutation in autism

The paper identifies 1.2 million structural variants in 235 individuals, showing high de novo mutation diversity and complex mutation clusters, but finds no increased genome rearrangement rate for ASD.