Cynthia Powell MD
Clinical Biochemical Genetics, Clinical Cytogenetics, Clinical Genetics, Pediatric Medical Genetics
University of North Carolina at Chapel Hill School of Medicine, Dept of Pediatrics, Div of Genetics
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101 Manning DrChapel Hill, NC 27514
Phone+1 919-966-8596
Fax+1 919-843-5515
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Education & Training
Clinical Center at the National Institutes of HealthFellowship, Clinical Biochemical Genetics, 1990 - 1993
Children's National HospitalResidency, Pediatrics, 1987 - 1990
Virginia Commonwealth University School of MedicineClass of 1987
Certifications & Licensure
NC State Medical License 1993 - 2025
American Board of Medical Genetics and Genomics Clinical Cytogenetics and Genomics- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Fellow (FAAP) American Academy of Pediatrics
Publications & Presentations
PubMed
- Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers.Magnolia G Wang, Kristen Lancaster, Cynthia M Powell
American Journal of Medical Genetics. Part A. 2024-12-01 - 27 citationsRapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.Jill L Maron, Stephen Kingsmore, Bruce D Gelb, Jerry Vockley, Kristen Wigby
JAMA. 2023-07-11 - 1 citationsInsights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones
American Journal of Medical Genetics. Part A. 2023-04-01
Journal Articles
- Family relations in the genomic era: Communicating about intergenerational transmission of risk for disability.Bailey DB, Lewis MA, Roche M, Powell CM (2014)., Family Relations, 2014, 63: 85-100., 2014
- Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.Weemaes CM, van Tol MJ, Wang J, van Ostaijen-Ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furth..., Eur J Hum Genet. 2013, 21(11):1219-25., 2013
Press Mentions
Lighting the Way for Rare DiseaseMay 31st, 2022- Newsworthy from the School of Medicine, Week of March 11 – March 17March 16th, 2022
- Newsworthy from the School of Medicine, Week of December 3 – 9December 8th, 2021
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Grant Support
- NC NEXUS, North Carolina Newborn Exome Sequencing for Universal ScreeningNational Institute of Child Health and Development and National Human Genome Research Institute2013–Present
Professional Memberships
- Fellow
- American College of Medical Genetics and GenomicsFellow
- American Society of Human GeneticsMember
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