Julie Phipps
John Radcliffe Hospital(GB)University of Oxford(GB)MRC Weatherall Institute of Molecular Medicine(GB)Oxford University Hospitals NHS Trust(GB)
Publications by Year
Research Areas
Craniofacial Disorders and Treatments, Cleft Lip and Palate Research, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis(2013)219 cited
- → Diagnostic value of exome and whole genome sequencing in craniosynostosis(2016)120 cited
- → SMAD6 variants in craniosynostosis: genotype and phenotype evaluation(2020)50 cited
- → Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis(2013)34 cited
- → A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis(2020)34 cited
- → Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance(2023)10 cited