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Office
8001 Frost St
Suite 510
San Diego, CA 92123Phone+1 858-966-5819
Education & Training
Boston University Medical CenterResidency, Neurology, 1996 - 1997
Beth Israel Deaconess Medical Center/Harvard Medical SchoolResidency, Neurology, 1992 - 1995
Santa Clara Valley Medical CenterInternship, Internal Medicine, 1991 - 1992
Stanford University School of MedicineClass of 1991
Certifications & Licensure
CA State Medical License 2004 - 2025
MA State Medical License 1996 - 2005- American Board of Psychiatry and Neurology Neurology
Publications & Presentations
PubMed
- 291 citationsRapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, Michelle M. Clark, Shimul Chowdhury
NPJ Genomic Medicine. 2018-04-04 - 20 citationsDe novo variants in snap25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock
Genetics in Medicine. 2021-04-30 - 27 citationsBiallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.Jennifer Friedman, Desirée E.C. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang
Nature Communications. 2019-02-12
Journal Articles
- Rapid Diagnosis of KCNQ2 Associated Early Infantile Epileptic Encephalopathy Improved OutcomeJennifer R Friedman, Jeffrey J Gold, Pediatric Neurology
Authored Content
- Rapid Diagnosis of KCNQ2 Associated Early Infantile Epileptic Encephalopathy Improved OutcomeJuly 2018
Press Mentions
International Team of Scientists Detect Cause of Rare Pediatric Brain DisorderMarch 15th, 2019
Cause of Rare Pediatric Brain DisorderFebruary 25th, 2019
San Diego Lab Helps Families Dealing with Exceedingly Rare DiseasesMarch 9th, 2016
Professional Memberships
- Member
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