Cynthia M. Powell - Concepedia

Author

Cynthia M. Powell

University of North Carolina at Chapel Hill ORCID

Also Known As

Aditi Shah Parikh, Berg, Jonathan S., C M Powell, C Powell, C. M. Powell, C.M. Powell, Civalier, Chris J., Cynthia Powell, Cynthia M Powell, Cynthia M. Powell

155

Publications

Citations

H-Index

113

Concepts

All Affiliations

University of North Carolina at Chapel Hill RTI International Pediatrics and Genetics Duke University University of Washington

About

Cynthia M. Powell is an author at University of North Carolina at Chapel Hill specializing in medicine, pediatrics, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	24	28	2.1K
2	Public Health	5	5	358
3	Education	3	3	87
4	Business	1	1	14
5	Management	1	1	14

Cynthia M. Powell

Publications

4.4K

Citations

H-Index

Page 1

	Year	Citations
Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy Eric J. Horstick, Jeremy W. Linsley, James J. Dowling, Nature Communications CytoskeletonPhysiologyMolecular BiologyNative American Myopathy	2013	256
Newborn Sequencing in Genomic Medicine and Public Health Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey, PEDIATRICS SequencingNeonatal GenomicsNewborn ScreeningNeonatologyNewborn Sequencing	2017	231
Survival of children with trisomy 13 and trisomy 18: A multi‐state population‐based study Robert E. Meyer, Gang Liu, Suzanne M. Gilboa, American Journal of Medical Genetics Part A	2015	205
Cytogenetic and molecular characterization of <i>A2BP1</i>/<i>FOX1</i> as a candidate gene for autism Jacqueline A. Duvall, Yesim Ilkin, Jason S. Simon, American Journal of Medical Genetics Part B Neuropsychiatric Genetics	2007	200
Genetic Studies of Autistic Disorder and Chromosome 7 Allison E. Ashley‐Koch, Chantelle M. Wolpert, Marisa M. Menold, Genomics Genetic DisorderSyndromic AutismGeneticsChromosome 7Autism	1999	196
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Human Mutation GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationDermatology	2015	188
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges Neeta L. Vora, Bradford C. Powell, Alicia Brandt, Genetics in Medicine Developmental AnomalyDevelopmental BiologyGeneticsMaternal HealthPrenatal Exome Sequencing	2017	179
Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome Jill A. Rosenfeld, Blake C. Ballif, Ann Lucas, PLoS ONE Developmental AnomalyGene Deletion DataDevelopmental BiologyMendelian DisorderGenetic Disorder	2009	174
Townes-Brocks syndrome Cynthia M. Powell, Ron C. Michaelis Journal of Medical Genetics	1999	148
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects Corry M.R. Weemaes, Maarten JD van Tol, Jun Wang, European Journal of Human Genetics Heterogeneous Clinical PresentationIcf SyndromeMendelian DisorderAutoimmune DiseaseGenetic Disorder	2013	137

Page 1