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Office
3020 Childrens Way
San Diego, CA 92123Phone+1 858-966-5911- Is this information wrong?
Education & Training
- Children's Hospital/Beth Israel Deaconess Medical Center/Harvard Medical SchoolResidency, Child Neurology, 1993 - 1996
- Children's Hospital/Boston Medical CenterResidency, Pediatrics, 1991 - 1993
- University of Chicago Division of the Biological Sciences The Pritzker School of MedicineClass of 1991
Certifications & Licensure
- CA State Medical License 1999 - 2025
- NY State Medical License 2014 - 2016
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Awards, Honors, & Recognition
- Investigator Howard Hughes Medical Institute
Publications & Presentations
PubMed
- Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie...> ;Brain. 2024 Apr 4
- Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Moriel Singer-Berk, Emily Groopman, Isaac Wong, Eleina England, Julia Goodrich...> ;American Journal of Human Genetics. 2024 Mar 27
- Loss of symmetric cell division of apical neural progenitors drives-related developmental and epileptic encephalopathy.Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Levesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem ...> ;Medrxiv. 2024 Jan 31
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Journal Articles
- Biallelic Loss of Human CTNNA2, Encoding αN-Catenin, Leads to ARP2/3 Complex Overactivity and Disordered Cortical Neuronal MigrationJoseph G Gleeson, Ian Miller, Bruce A Barshop, William B Dobyns, Murat Gunel, Nature
- Defining the Phenotypic Spectrum of SLC6A1 MutationsLance H Rodan, Heather C Mefford, Lynne M Bird, Sara Chadwick Reichert, Mark Nespeca, Orrin Devinsky, Sarah Hopkins, Laura Pisani, John J Millichap, Joseph G Gleeson, Epilepsia
Press Mentions
- Researchers Discover Cause of Childhood Epilepsy: The Tribune IndiaJanuary 14th, 2023
- Researchers Find Cause of Epilepsy in ChildrenJanuary 13th, 2023
- Where Neurons Begin in the Brain Isn’t Necessarily Where They EndApril 22nd, 2022
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Grant Support
- University Of California, SAN Diego Neuroscience Microscopy Imaging CoreNational Institute Of Neurological Disorders And Stroke2008–2012
- Project 1National Institute Of Neurological Disorders And Stroke2008–2012
- Project 3. Genetic Models Of Human Structural Brain Defects In ZebrafishEunice Kennedy Shriver National Institute Of Child Health &Human Development2011
- Project 2. Mouse Models Of Human Structural Brain Disorders: Forward And ReversEunice Kennedy Shriver National Institute Of Child Health &Human Development2011
- Project 1. Genetic Dissection Of Human Structural Brain Disorders From Inbred POEunice Kennedy Shriver National Institute Of Child Health &Human Development2011
- Developmental Mechanisms Of Human Structural Brain DefectsEunice Kennedy Shriver National Institute Of Child Health &Human Development2011
- Core C. Bioinformatics Genomics CoreEunice Kennedy Shriver National Institute Of Child Health &Human Development2011
- Core B. Highl-Throughput Sequencing Genomics CoreEunice Kennedy Shriver National Institute Of Child Health &Human Development2011
- Core A. Administrative CoreEunice Kennedy Shriver National Institute Of Child Health &Human Development2011
- Jouberin And Nephrocystin In Joubert SyndromeNational Institute Of Neurological Disorders And Stroke2007–2011
- Molecular Characterization Of Joubert SyndromeNational Institute Of Neurological Disorders And Stroke2004–2011
- Doublecortin In Neuronal MigrationNational Institute Of Neurological Disorders And Stroke2002–2011
- Super-Resolution Imaging At The UCSD Microscopy CoreNational Center For Research Resources2010
- Jouberin And Nephrocystin In Joubert SyndromeNational Center For Research Resources2008–2009
- Doublecortin In Neuronal MigrationNational Center For Research Resources2008–2009
- Role Of The Doublecortin/Spinophilin Interaction In Neurite OutgrowthNational Center For Research Resources2008
- Patient-Oriented Research In Recessive Pediatric Brain DiseasesNational Institute Of Neurological Disorders And Stroke2007–2008
- Spinophilin And Microtubule Bundling At The Axonal "Wrist"National Center For Research Resources2007
- U Of Calif, SAN Diego Neuroscience Microscopy ImagingNational Institute Of Neurological Disorders And Stroke2003–2007
- Volumetric Analysis Of Mice With MicrocephalyNational Center For Research Resources2004–2006
- Molecular Mechanisms Of Neuronal MigrationNational Institute Of Neurological Disorders And Stroke2002–2006
- UCSD Neuroscience Microscopy Imaging CoreNational Institute Of Neurological Disorders And Stroke2005
- Advances In Midbrain/Hindbrain MalformationsNational Institute Of Neurological Disorders And Stroke2005
Hospital Affiliations
- Rady Children's Hospital - San DiegoSan Diego, California
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