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Office
254 Easton Ave
New Brunswick, NJ 08901Phone+1 732-745-6659
Education & Training
- Cleveland Clinic FoundationResidency, Pediatrics, 1986 - 1989
- Case Western Reserve University School of MedicineClass of 1986
Certifications & Licensure
- NJ State Medical License 1990 - 2025
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 45 citationsMutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and HypotoniaElizabeth J. Bhoj, Dong Li, Margaret Harr, Shimon Edvardson, Orly Elpeleg
American Journal of Human Genetics. 2016-04-07 - 14 citationsDe novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He
Science Advances. 2022-08-19 - 32 citationsBiochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, Taraka R. Donti, Debra-Lynn Day-Salvatore
Plos One. 2017-09-29
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