CynthiaPowellMD

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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Office
101 Manning Dr
Chapel Hill, NC 27514
Phone+1 919-966-8596

Fax+1 919-843-5515

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

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

PubMed

1 citations
Insights 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
7 citations
Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.
Margie A Ream, Wendy K K Lam, Scott D Grosse, Jelili Ojodu, Elizabeth Jones
Genetics in Medicine. 2023-02-01
1 citations
Klinefelter Syndrome and Turner Syndrome
Carole A. Samango-Sprouse, Sophia Q. Song, Angela E. Lin, Cynthia M. Powell, Andrea L. Gropman
Pediatrics in Review. 2021-05-01

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

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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NC NEXUS, North Carolina Newborn Exome Sequencing for Universal ScreeningNational Institute of Child Health and Development and National Human Genome Research Institute2013–Present