Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project
2020 · The American Journal of Human Genetics · 117 citations
https://doi.org/10.1016/j.ajhg.2020.08.001
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Cynthia M. Powell
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Cynthia M. Powell is an academic researcher from University of North Carolina at Chapel Hill. The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & Prenatal Screening and Diagnostics. The author has an h-index of 38, co-authored 132 publications.
ORCID: 0000-0002-4260-5601Papers by this author
worksA semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing
2015 · Genetics in Medicine · 98 citations
https://doi.org/10.1038/gim.2015.104
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
2021 · Human Genetics and Genomics Advances · 36 citations
https://doi.org/10.1016/j.xhgg.2021.100074
Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making
2021 · Genome Medicine · 34 citations
https://doi.org/10.1186/s13073-021-00867-1
The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening
2019 · The Journal of Pediatrics · 27 citations
https://doi.org/10.1016/j.jpeds.2019.04.027
A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check
2021 · International Journal of Neonatal Screening · 26 citations
https://doi.org/10.3390/ijns7010020
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