Area of research
Neurology · Genetics
Research interest
Research interests include Neurofibromatosis and Schwannoma Cases, Genomics and Rare Diseases, Meningioma and schwannoma management, and BRCA gene mutations in cancer.
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
Genetic testing for the epilepsies: A systematic review
Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors
2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling
Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials
Current status and recommendations for biomarkers and biobanking in neurofibromatosis
Creation of an international registry to support discovery in schwannomatosis
Dystrophic Spinal Deformities in a Neurofibromatosis Type 1 Murine Model
Clinical response to bevacizumab in schwannomatosis
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Increased risk of breast cancer in women with NF1
Looking for a research collaborator?
Search millions of scientists by field, institution, impact, and funding status — see their work, find their email, and reach out directly.
Find collaborators in Neurology · Genetics →