Area of research
Neurology · Epidemiology
Research interest
Research interests include Neurofibromatosis and Schwannoma Cases, Meningioma and schwannoma management, Connective tissue disorders research, and BRCA gene mutations in cancer.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study
Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation