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Office
1825 4th St
San Francisco, CA 94143Phone+1 415-514-9306Fax+1 415-353-1871
Education & Training
University of California (San Francisco)Fellowship, Child Neurology, 1997 - 2000- University of California (San Francisco) School of MedicineInternship, Transitional Year, 1996 - 1997
Columbia University Vagelos College of Physicians and SurgeonsClass of 1995
Certifications & Licensure
CA State Medical License 1998 - 2025
American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Awards, Honors, & Recognition
- Regional Top Doctor Castle Connolly, 2014
Clinical Trials
- Brain Development Research Program Start of enrollment: 2003 Aug 01
- Simons Variation in Individuals Project, Functional Common Acquisition Protocol Start of enrollment: 2011 Sep 01
Publications & Presentations
PubMed
- CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso
Clinical Genetics. 2025-02-19 - C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.Ruiji Jiang, Malek Chouchane, Ching Moey, Jens Bunt, Jiang Li
Biorxiv. 2025-01-28 - Basic helix-loop-helix transcription factormonoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual di...Carolyn Le, Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner
Medrxiv. 2024-12-17
Authored Content
- Publisher Correction: Mutations in Vps15 Perturb Neuronal Migration in Mice and Are Associated with Neurodevelopmental Disease in HumansJune 2018
- Infantile Spasms of Unknown Cause: Predictors of Outcome and Geneotype-Phenotype CorrelationMay 2018
Press Mentions
Exploring the Genetic Foundations of Autism and Gene Therapy TreatmentsJanuary 17th, 2025
Copy Number Variations Linked to Autism Have Diverse but Overlapping EffectsFebruary 1st, 2021
Drug ISRIB Is a Memory Enhancer, Anti Cancer Agent, Protects Hearing and Perhaps Has Anti Aging EffectsDecember 27th, 2020- Join now to see all
Grant Support
- 4 Of 7: Epi4k: Epileptic Encephalopathies ProjectNational Institute Of Neurological Disorders And Stroke2011
- Gene Discovery In Aicardi Syndrome: A Special Case Of Callosal AgenesisNational Institute Of Neurological Disorders And Stroke2008–2009
- Genetic Etiologies Of Agenesis Of The Corpus CallosumNational Institute Of Neurological Disorders And Stroke2005–2009
- Agenesis Of The Corpus Callosum: A Phenotypic And Genetic AnalysisNational Center For Research Resources2004–2005
Other Languages
- Spanish
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