Cynthia M. Powell
University of North Carolina at Chapel Hill(US)University of North Carolina Health Care(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy(2013)256 cited
- → Newborn Sequencing in Genomic Medicine and Public Health(2017)232 cited
- → Survival of children with trisomy 13 and trisomy 18: A multi‐state population‐based study(2015)208 cited
- → Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism(2007)200 cited
- → Genetic Studies of Autistic Disorder and Chromosome 7(1999)196 cited
- → High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation(2015)189 cited