Brooke K. Sheppard

The paper quantifies developmental changes in voltage-gated sodium channel exon expression in human and mouse neocortex, identifying key splicing transitions associated with neurological disorders.

The paper uses whole-genome and RNA sequencing from the human prefrontal cortex to identify genetic variants and transcriptomic changes associated with neurodevelopment and neuropsychiatric disorders.

The paper introduces a model for structured polygenic epistasis called Coordinated Interaction and tests it using the UK Biobank, finding evidence in 14 of 26 traits.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

This paper presents the largest case-control epigenome-wide association study (EWAS) for autism spectrum disorder (ASD) using blood DNA methylation data, finding no significant CpG sites but suggestive associations and concordance with brain samples.

The paper integrates genetic and epigenetic data to identify ASD-associated SNPs enriched in tissue-specific meQTLs and reveals immune-related pathways and psychiatric condition links.