She has over 14 years of experience in molecular diagnostics and gene discovery research. Seven years ago, she began utilizing next generation sequencing technology for gene discovery, saw its usefulness for research and potential in diagnostics. She and her colleagues have since seen their share of gene discoveries including the identification of the underlying cause of Nager and Cerebrocostomandibular syndromes. She is a member of Care of Rare, optimizing the clinical implementation of whole exome/clinome sequencing.