Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include BRCA gene mutations in cancer, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, and Genetic factors in colorectal cancer.
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
A picture is worth a thousand words: advancing the use of visualization tools in implementation science through process mapping and matrix heat mapping
Systemic Barriers to Risk-Reducing Interventions for Hereditary Cancer Syndromes: Implications for Health Care Inequities
Clustering of comorbid conditions among women who carry an FMR1 premutation
Implementing universal Lynch syndrome screening (IMPULSS): protocol for a multi-site study to identify strategies to implement, adapt, and sustain genomic medicine programs in different organizational contexts
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
Epidemiology of fragile X syndrome: A systematic review and meta‐analysis
The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project
Depression and anxiety symptoms among women who carry the <i>FMR1</i> premutation: Impact of raising a child with fragile X syndrome is moderated by <i>CRHR1</i> polymorphisms
Capturing the fragile X premutation phenotypes: A collaborative effort across multiple cohorts.