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Researchers

Jacinda Sampson, MD, PhD

Researcher
Clinical Associate Professor
Stanford Neuroscience Health Center
Stanford University Medical Center
213 Quarry Road
Palo Alto, California, United States

Jacinda Sampson is a neurogeneticist and neuromuscular neurologist currently working as clinical associate professor in neurology and neurological sciences at Stanford University Medical Center.

Dr. Jacinda Sampson received her MD and a PhD in biochemistry from University of Alabama at Birmingham, and completed her neurology residency and neurogenetics fellowship at the University of Utah. She served at Columbia University Medical Center prior to joining Stanford University Medical Center in 2015. Her areas of interest include myotonic dystrophies, Duchenne muscular dystrophy, and neurogenetic disorders such as neurofibromatosis, hereditary spastic paraparesis, spinocerebellar ataxia, among others.

 

Representative Publications:

Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort

Nonsense Mutation-Associated Becker Muscular Dystrophy: Interplay between Exon Definition and Splicing Regulatory Elements within the DMD Gene

Clinical and genetic characterization of manifesting carriers of DMD mutations

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