Karen Pierce

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.

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.

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.

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.

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

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

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

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.

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.