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Office
200 UCLA Medical Plz 265
Los Angeles, CA 90095Phone+1 310-206-6581Fax+1 323-361-8052
Education & Training
- Sidney Kimmel Medical College at Thomas Jefferson UniversityClass of 1994
Certifications & Licensure
- CA State Medical License 2011 - 2025
- PA State Medical License 1995 - 2012
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 25 citationsRates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.Elaine Chen, Flavia M Facio, Kerry W Aradhya, Susan Rojahn, Kathryn E Hatchell
JAMA Network Open. 2023-10-02 - 9 citationsTracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsyAntonios Pantazis, Maki Kaneko, Marina Angelini, Federica Steccanella, Annie M. Westerlund
The Journal of Physiology. 2020-11-01 - 127 citationsPIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda M. Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha
JCI Insight. 2016-06-16
Press Mentions
- New Study Challenges Current Practices: Nuchal Translucency Screens Detect Genetic Disorders at Lower ThresholdsApril 9th, 2024
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