CynthiaPowellMD
Medical Genetics • Chapel Hill, NCClinical 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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Office
101 Manning Dr
Chapel Hill, NC 27514Phone+1 919-966-8596Fax+1 919-843-5515
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
- 34 citationsNovel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infan...Jill L. Maron, Stephen F. Kingsmore, Kristen Wigby, Shimul Chowdhury, David Dimmock
JAMA Pediatrics. 2021-02-15 - 149 citationsNewborn Sequencing in Genomic Medicine and Public Health.Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey, Alan H. Beggs, Steven E. Brenner
Pediatrics. 2017-02-01 - 121 citationsPrenatal exome sequencing in anomalous fetuses: new opportunities and challenges.Neeta L. Vora, Bradford C. Powell, Alicia Brandt, Natasha T. Strande, Emily Hardisty
Genetics in Medicine. 2017-05-18
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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