Amanda L. Bergner
Columbia University(US)
Publications by Year
Research Areas
Neurofibromatosis and Schwannoma Cases, Genomics and Rare Diseases, Meningioma and schwannoma management, BRCA gene mutations in cancer, Vascular Malformations Diagnosis and Treatment
Most-Cited Works
- → Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation(2021)713 cited
- → Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas(2013)319 cited
- → Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation(2022)254 cited
- → Genetic testing for the epilepsies: A systematic review(2021)140 cited
- → Efficacy and Biomarker Study of Bevacizumab for Hearing Loss Resulting From Neurofibromatosis Type 2–Associated Vestibular Schwannomas(2016)133 cited
- → Increased risk of breast cancer in women with NF1(2012)121 cited
- → Current whole-body MRI applications in the neurofibromatoses(2016)86 cited
- → Spectrum and Prevalence of Vasculopathy in Pediatric Neurofibromatosis Type 1(2012)77 cited
- → 2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling(2016)72 cited
- → Mutation analysis of B3GALTL in Peters Plus syndrome(2008)61 cited