My goal is to reach as precise a diagnosis as possible, so that each child can receive the best current and emerging treatments.
Where I see patients (5)
Selected research
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Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.
Brain : a journal of neurology
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Andersen-Tawil syndrome.
Handbook of clinical neurology
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Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease.
Pediatric clinics of North America
Clinical trials
A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
Recruiting
More about this studySafety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency
Recruiting
More about this studyFetal surgery firsts
The first open fetal surgery in the world was performed at UCSF in the early 1980s.
