selected publications
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academic article
- Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.. American journal of medical genetics. Part A. 194:-. 2024
- Clinical and genetic characterization of CACNA1A-related disease.. Clinical genetics. 102:288-295. 2022
- Reproductive decision-making in families containing multiple individuals with epilepsy.. Epilepsia. 62:1220-1230. 2021
- KIF1A. HGG advances. 2. 2021
- Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.. Genetics in medicine : official journal of the American College of Medical Genetics. 21:2371-2380. 2019
- Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients.. Journal of genetic counseling. 26:1116-1129. 2017
- Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.. Neurogenetics. 17:159-64. 2016
- Effectiveness of a school district closure for pandemic influenza A (H1N1) on acute respiratory illnesses in the community: a natural experiment.. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 56:509-16. 2012