C
Cynthia M. Powell
Researcher at University of North Carolina at Chapel Hill
Publications - 105
Citations - 4287
Cynthia M. Powell is an academic researcher from University of North Carolina at Chapel Hill. The author has contributed to research in topics: Newborn screening & Exome sequencing. The author has an hindex of 33, co-authored 99 publications receiving 3573 citations. Previous affiliations of Cynthia M. Powell include National Institutes of Health & Mayo Clinic.
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Journal ArticleDOI
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.
Christa Lese Martin,Jacqueline A. Duvall,Yesim Ilkin,Jason S. Simon,M. Gladys Arreaza,Kristin Wilkes,Ana Isabel Alvarez-Retuerto,Amy Whichello,Cynthia M. Powell,Kathleen W. Rao,Edwin H. Cook,Daniel H. Geschwind +11 more
TL;DR: A de novo translocation between the short arms of chromosomes 15 and 16 in a female with autism, epilepsy, and global developmental delay is reported, suggesting that A2BP1 may affect susceptibility or cause autism in a subset of patients.
Journal ArticleDOI
Genetic studies of autistic disorder and chromosome 7.
Allison E. Ashley-Koch,Chantelle M. Wolpert,M. M. Menold,L. Zaeem,S. Basu,S. L. Donnelly,Sarah A. Ravan,Cynthia M. Powell,Mazin B. Qumsiyeh,Arthur S. Aylsworth,Jeffery M. Vance,John R. Gilbert,Harry H. Wright,Ruth K. Abramson,G. R. DeLong,Michael L. Cuccaro,Margaret A. Pericak-Vance +16 more
TL;DR: The identified AD family in which three sibs inherited from their mother a paracentric inversion in the chromosome 7 candidate region provides further evidence for the presence of an AD locus on chromosome 7q, as well as evidence suggesting that this locus may be paternally expressed.
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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,Michael A. Hauser,Kristin K. McDonald,Allison E. Ashley-Koch,Louis Saint-Amant,Louis Saint-Amant,Akhila G. Satish,Wilson W. Cui,Weibin Zhou,Shawn M. Sprague,Demetra S. Stamm,Cynthia M. Powell,Marcy C. Speer,Clara Franzini-Armstrong,Hiromi Hirata,John Y. Kuwada +17 more
TL;DR: It is revealed that a mutation in human STAC3 as the genetic basis of the debilitating Native American myopathy (NAM) is revealed, and analysis of NAM stac3 in zebrafish shows that the NAM mutation decreases excitation-contraction coupling.
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X-chromosome effects on female brain: a magnetic resonance imaging study of Turner's syndrome
Declan G. Murphy,Charles DeCarli,Eileen Daly,James V. Haxby,G.E. Allen,Anthony R. McIntosh,Barry Horwitz,S. I. Rapoport,M. B. Schapiro,Beverly J. White,Cynthia M. Powell +10 more
TL;DR: It is postulate that in human beings the X chromosome plays an important part in the development and ageing of grey matter in striatum, diencephalon, and cerebral hemispheres.
Journal ArticleDOI
Newborn Sequencing in Genomic Medicine and Public Health.
Jonathan S. Berg,Pankaj B. Agrawal,Donald B. Bailey,Alan H. Beggs,Steven E. Brenner,Amy Brower,Julie A. Cakici,Ozge Ceyhan-Birsoy,Kee Chan,Flavia Chen,Robert Currier,Dmitry Dukhovny,Robert C. Green,Julie Harris-Wai,Ingrid A. Holm,Brenda Iglesias,Galen Joseph,Stephen F. Kingsmore,Barbara A. Koenig,Pui-Yan Kwok,John D. Lantos,Steven J. Leeder,Megan A. Lewis,Amy L. McGuire,Laura V. Milko,Sean D. Mooney,Richard B. Parad,Stacey Pereira,Joshua E. Petrikin,Bradford C. Powell,Cynthia M. Powell,Jennifer M. Puck,Heidi L. Rehm,Neil Risch,Myra I. Roche,Joseph T. Shieh,Narayanan Veeraraghavan,Michael S. Watson,Laurel K. Willig,Timothy W. Yu,Tiina K. Urv,Anastasia L. Wise +41 more
TL;DR: An overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium is provided, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.