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Office
101 Manning Dr
Chapel Hill, NC 27599Phone+1 919-966-8596Fax+1 919-843-5515- Is this information wrong?
Education & Training
- Clinical Center at the National Institutes of HealthFellowship, Clinical Biochemical Genetics, 1990 - 1993
- Children's National Medical CenterResidency, Pediatrics, 1987 - 1990
- Virginia Commonwealth University School of MedicineClass of 1987
Certifications & Licensure
- NC State Medical License 1993 - 2024
- 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
- 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, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara...> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
- 1 citationsEvidence 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, Lisa A Prosser, Angela M Rosé, Anne Marie Comeau, Susan Tanksley, Cynthia M Powell, Alex R...> ;Genetics in Medicine. 2023 Feb 1
- 1 citationsKlinefelter Syndrome and Turner SyndromeCarole A. Samango-Sprouse, Sophia Q. Song, Angela E. Lin, Cynthia M. Powell, Andrea L. Gropman> ;Pediatrics in Review. 2021 May 1
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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
Hospital Affiliations
- University of North Carolina HospitalsChapel Hill, North Carolina
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