Area of research
Neurology · Epidemiology
Research interest
Research interests include Neurofibromatosis and Schwannoma Cases, Meningioma and schwannoma management, Neuroblastoma Research and Treatments, and Genetic Neurodegenerative Diseases.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Revised diagnostic criteria and nomenclature for neurofibromatosis 2 and schwannomatosis: an international consensus recommendation (S27.003)
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1
Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials
Current status and recommendations for biomarkers and biobanking in neurofibromatosis
Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum
Autism Spectrum Disorder Profile in Neurofibromatosis Type I
Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA