Laura Cook

The paper investigates the regulatory effects of Neanderthal and Denisovan introgression in Papuan populations using a massively parallel reporter assay, finding differential activity in immune-related genes.

The paper identifies dunnart-specific enhancers and promoters in craniofacial development, showing divergence in regulatory landscapes between marsupials and placental mammals.

The paper annotates de novo variants near GWAS loci for cleft lip with or without cleft palate, finding noncoding variants in enhancer regions associated with craniofacial development genes.

The paper maps the mutagenic sensitivity of human enhancers in vivo by systematically mutating enhancer sequences and using predictive modeling to identify critical nucleotides.

The paper identifies conserved skeletal enhancers near GWAS risk loci for craniosynostosis, linking sequence variants to altered gene expression and disease risk.

The paper identifies 14,000 human craniofacial enhancers across developmental stages and shows 56% are conserved in mice, providing cell type- and stage-specific activity profiles.

The paper identifies Denisovan introgression in Papuan genomes that influences immune-related processes and regulatory elements, with experimental validation of functional impacts.