SanmatiCuddapahMD
Medical Genetics • Houston, TXClinical Genetics, Pediatric Medical Genetics
Assistant Professor of Clinical Pediatrics, Perelman School of Medicine Attending Physician, Division of Human Genetics, Children's Hospital of Philadelphia
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Office
6701 Fannin St
Ste 1560
Houston, TX 77030Phone+1 832-822-2100
Summary
- Specialize in Metabolism, Williams Syndrome, and Connective Tissue Disorders
Education & Training
University of Alabama Medical CenterResidency, Pediatrics/Medical Genetics and Genomics, 2010 - 2015
Emory University School of MedicineClass of 2010
Certifications & Licensure
TX State Medical License 2024 - 2026
PA State Medical License 2015 - 2024
AL State Medical License 2012 - 2015- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 8 citationsMalate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves
Molecular Genetics and Metabolism Reports. 2022-12-01 - 6 citationsA new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.Alanna Strong, Gina O'Grady, Evelyn K. Shih, Jonathan R Bishop, Kathleen M. Loomes
American Journal of Medical Genetics. Part A. 2021-05-07 - 15 citationsEfficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experienceRebecca C. Ahrens-Nicklas, Ashley M Whitaker, Paige Kaplan, Sanmati Cuddapah, Jessica Burfield
Genetics in Medicine. 2017-02-02
Press Mentions
Penn Medicine, Philadelphia: $25 Million Gift Establishes Armellino Center of Excellence for Williams Syndrome at Penn MedicineAugust 8th, 2022
Professional Memberships
- Fellow
- American College of Medical GeneticsMember
- Society of Inherited Metabolic DiseaseMember
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