Laura Cook

Mapping the gene regulatory landscape of archaic hominin introgression in modern Papuans

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.

Gene regulatory dynamics during craniofacial development in a carnivorous marsupial

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

Functional annotation of de novo variants found near GWAS loci associated with cleft lip with or without cleft palate

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.

Mutagenesis Sensitivity Mapping of HumanEnhancers In Vivo

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

Identification of conserved skeletal enhancers associated with craniosynostosis risk genes

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

Cell Type- and Tissue-specific Enhancers in Craniofacial Development

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.

Denisovan introgression has shaped the immune system of present-day Papuans

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