Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research interests include Genomics and Rare Diseases, BRCA gene mutations in cancer, Genetic Neurodegenerative Diseases, and Cystic Fibrosis Research Advances.
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders