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Office
3401 Civic Center Blvd
# 9NW
Philadelphia, PA 19104Phone+1 215-590-1220
Summary
- Dr. Tomoki Nomakuchi, MD is a board certified pediatrician in Philadelphia, Pennsylvania. He is currently licensed to practice medicine in Pennsylvania. He is affiliated with Children's Hospital of Philadelphia and Hospital of the University of Pennsylvania.
Education & Training
Stony Brook University Health Sciences Center School of MedicineClass of 2018
Certifications & Licensure
PA State Medical License 2018 - 2024- American Board of Pediatrics Pediatrics
Publications & Presentations
PubMed
- 2 citationsHyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.K. Taylor Wild, Tomoki T Nomakuchi, Sarah E Sheppard, Karla F. Leavens, Diva D. De León
American Journal of Medical Genetics. Part A. 2021-01-14 - 2 citationsPoint mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.Audrey G O'Neill, Anika L Burrell, Michael Zech, Orly Elpeleg, Tamar Harel
Biorxiv. 2023-03-15 - 4 citationsNeurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.Audrey G O'Neill, Anika L Burrell, Michael Zech, Orly Elpeleg, Tamar Harel
The Journal of Biological Chemistry. 2023-08-01
