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Office
8700 Beverly Blvd.
Suite 4221
Los Angeles, CA 90048Phone+1 310-423-4441
Summary
- I am a physician-scientist with more than 20 years of clinical and basic science research experience focusing on rare neurogenetic disorders. My goals are to help families with these disorders in the clinic as well as studying the disorders in my laboratory. I did my research training in the laboratory of Bert O’Malley, MD, working with the mifepristone-inducible gene system for gene therapy. I then completed pediatric neurology training at the Children’s Hospital of Philadelphia, followed by a fellowship in neurogenetics at the National Institutes of Health, as well as being an early member of the Undiagnosed Diseases Program at NIH prior to moving to Cedars-Sinai. At Cedars-Sinai, I have worked to organize the Pediatric Neurogenetics Clinic and am part of the Center for the Undiagnosed Patient. My laboratory research focuses on developing methods to better understand and treat neurodevelopmental and neurodegenerative disorders of childhood.
Education & Training
- Clinical Center at the National Institutes of HealthFellowship, Neurogenetics/Rare Diseases, 2007 - 2010
- Children's Hospital of PhiladelphiaResidency, Child Neurology, 2002 - 2006
- University of Pennsylvania Health SystemResidency, Neurology, 2002 - 2003
- Baylor College of Medicine (Houston)Internship, Pediatrics, 2001 - 2002
- Baylor College of MedicineClass of 2001, MD PhD
Certifications & Licensure
- CA State Medical License 2012 - 2025
- NC State Medical License 2020 - 2022
- OR State Medical License 2020 - 2022
- PA State Medical License 2002 - 2022
- OK State Medical License 2020 - 2021
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Publications & Presentations
PubMed
- 40 citationsPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman
Biological Psychiatry. 2020-01-15 - 32 citationsLoss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li
Nature Communications. 2020-01-30 - 18 citationsNovel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.Maria Gabriela Otero, Emmanuelle Tiongson, Frank Diaz, Katrina Haude, Karin Panzer
Annals of Clinical and Translational Neurology. 2019-01-01
Press Mentions
- Detecting, Testing, Treating Rare Diseases: Technology Delivers New Era of PersonalizationMarch 11th, 2014
- Exome Sequencing Hits Clinic, Not Always for GoodNovember 5th, 2013
- Medical Mysteries Are Their SpecialtyApril 5th, 2022
Professional Memberships
- Child Neurology SocietyMember
- Member
Other Languages
- Swedish, Portuguese, German
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