Clinical Utility of Pediatric Whole Exome Sequencing
Encephalopathy Birth Defect Intellectual Disability Multiple Congenital Anomaly Metabolic Disease Epilepsy Neuro-Degenerative Disease Cerebral Palsy Developmental Delay Developmental Defect Exome Sequencing Clinical Utility Pediatric Underrepresented Underserved Brain Diseases Neurodegenerative Diseases Congenital Abnormalities Abnormalities, Multiple Metabolic Diseases Whole Exome Sequencing
Lead Scientists at UCSF
- Pui-Yan Kwok, MD/PhD
Professor, Cardiovascular Research Inst. Authored (or co-authored) 264 research publications.
- Barbara Koenig, PhD
Professor, Institute for Health & Aging. Authored (or co-authored) 137 research publications.
- Mary Norton, MD
Professor, Ob/Gyn, Reproductive Sciences. Authored (or co-authored) 186 research publications.
- accepting new patients
- Start Date
- Completion Date
- University of California, San Francisco
- Study Type
- Last Updated