Area of research
Genetics · Molecular Biology
Research interest
Research focused on Craniofacial and Genetics, with related work in Hypodontia, Phenotype, Missense mutation. Notable publications include 'Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations', 'Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis', and 'Long‐term changes in microbiology and clinical periodontal variables after completion of fixed orthodontic appliances'.
Retinoic acid disrupts osteogenesis in pre-osteoblasts by down-regulating WNT signaling
Update on 13 Syndromes Affecting Craniofacial and Dental Structures
MicroRNAs in Palatogenesis and Cleft Palate
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
Tooth agenesis and orofacial clefting: genetic brothers in arms?
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations
AGORA, a data‐ and biobank for birth defects and childhood cancer
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Long‐term changes in microbiology and clinical periodontal variables after completion of fixed orthodontic appliances
Tooth agenesis patterns in unilateral cleft lip and palate in humans