Liusaidh J. Owen

The paper uses deep mutational scanning to quantify PAX6:DNA binding and predict clinical outcomes of variants, finding most pathogenic mutations affect DNA binding.

The paper uses optic vesicle organoids to study gene expression and chromatin changes during eye field specification, identifying key transcription factors and regulatory elements.

The paper identifies rare CRE variants associated with X-linked intellectual disability by combining sequencing, functional assays in zebrafish and mice, and phenotypic analysis.