Powell, Cynthia M.

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

Martin, C. L., Duvall, J. A., Ilkin, Y., Simon, J. S., Arreaza, M. G., Wilkes, K., Alvarez‐Retuerto, A., Whichello, A., Powell, C. M., Rao, K., et al. (2007) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 198

Townes-Brocks syndrome

Powell, C. M., & Michaelis, R. C. (1999) · Journal of Medical Genetics

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 150

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome

Zarate, Y. A., Smith‐Hicks, C. L., Greene, C., Abbott, M., Siu, V. M., Calhoun, A. R. U. L., Pandya, A., Li, C., Sellars, E. A., Kaylor, J., et al. (2018) · American Journal of Medical Genetics Part A

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 71

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

Lee, S., Clinard, K., Young, S. P., Rehder, C. W., Fan, Z., Calikoglu, A. S., Bali, D. S., Bailey, D. B., Gehtland, L. M., Millington, D. S., et al. (2020) · JAMA Network Open

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Wagner, M., Skorobogatko, Y., Pode-Shakked, B., Powell, C. M., Alhaddad, B., Seibt, A., Barel, O., Heimer, G., Hoffmann, C., Demmer, L. A., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersProtein Kinase Regulation and GTPase Signaling

Cited by 31