Dr. Demarzo is on Doximity
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Office
1200 Childrens Ave
Ste 12100
Oklahoma City, OK 73104Phone+1 405-241-4211
Education & Training
Ross University School of MedicineClass of 2007
Certifications & Licensure
FL State Medical License 2013 - 2026
OK State Medical License 2010 - 2025
TX State Medical License 2016 - 2016
MI State Medical License 2007 - 2009- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA) Start of enrollment: 2018 Sep 25
Roles: Contact, Principal Investigator
Publications & Presentations
PubMed
- 16 citationsVariants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.Alison M. Muir, Jennifer F. Gardner, Richard H. van Jaarsveld, Iris M de Lange, Jasper J. van der Smagt
Genetics in Medicine. 2021-01-20 - 4 citationsNovel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl pho...Hsin-Ti Lin, Yazmin Enchautegui-Colon, Yu-Ren Huang, Chelsea Zimmerman, Danielle DeMarzo
Molecular Genetics and Metabolism Reports. 2022-12-01 - 16 citationsBi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.Alison M. Muir, Jennifer L. Cohen, Sarah E Sheppard, Pavithran Guttipatti, Tsz Y. Lo
American Journal of Human Genetics. 2020-05-07
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