Rebecca Tooze
BSc (Hons)
DPhil Student
Clinical Genetics
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.
Research groups
Websites
-
MRC Weatherall Institute of Molecular Medicine
Research Institute
Recent publications
-
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Journal article
Tooze RS. et al, (2023), Genet Med
-
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Journal article
Tooze RS. et al, (2023), Genes, 14, 615 - 615