selected publications
- Virtual versus reality: Assessing the accuracy of a digital cancer risk assessment tool in a gynecologic oncology clinic. Gynecologic oncology. 2025 Academic Article GET IT
- Digital tool for genetic cancer risk assessment in a historically underserved population: A randomized controlled trial. American journal of obstetrics and gynecology. 2025 Academic Article GET IT
- Uptake of Cascade Genetic Testing for Hereditary Breast and Ovarian Cancer: A Systematic Review and Meta-Analysis. Clinical obstetrics and gynecology. 2024 Review GET IT
- Are employees ready to engage in genetic cancer risk assessment in the workplace setting?. European journal of human genetics : EJHG. 2024 Academic Article GET IT
- Considering screening for hereditary cancer syndromes at the time of obstetrical prenatal carrier screening. Cancer. 2024 Academic Article GET IT
- Future Frontiers: Exploration of practices, challenges, and educational needs of genetic counselors in emerging subspecialties. Journal of genetic counseling. 2023 Academic Article GET IT
- ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. Human molecular genetics. 2023 Academic Article GET IT
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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics.
2021
Academic Article
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Times cited: 14 -
Factors associated with parental knowledge of neurofibromatosis type 1 (NF1): Parental affected status and genetic counseling.
Journal of genetic counseling.
2020
Academic Article
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Times cited: 3 -
Impact of patient education videos on genetic counseling outcomes after exome sequencing.
Patient education and counseling.
2019
Academic Article
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Times cited: 22 -
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
American journal of medical genetics. Part A.
2018
Review
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Times cited: 51 -
Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.
Clinical genetics.
2018
Academic Article
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Times cited: 50 -
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
American journal of human genetics.
2016
Academic Article
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Times cited: 59