I employ bioinformatic analyses to explore whole exome and genome sequencing data generated from the UK 100,000 Genomes Project and the 'Oxford basis of craniofacial malformation study'. Drawing on this information, I aim to identify novel candidate disease genes associated with craniosynostosis and functionally validate the associated pathogenic variants.
I am jointly funded by the Radcliffe Department of Medicine, the Usher Cunningham Scholarship (Exeter College), and the Medical Research Council.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS. et al, (2023), Genet Med
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Tooze RS. et al, (2023), Genes, 14, 615 - 615