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Grace A. Ashley, Ph.D.

Affiliations: 
2001 Icahn School of Medicine at Mount Sinai, New York, NY, United States 
Area:
Genetics, Molecular Biology, Pathology
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"Grace Ashley"
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Robert J. Desnick grad student 2001 Mount Sinai School of Medicine
 (alpha-Galactosidase A: Mutation analysis in patients with Fabry disease and expression and regulation in transgenic mice.)

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Ashley GA, Desnick RJ, Gordon RE, et al. (2002) High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease. Journal of Investigative Medicine : the Official Publication of the American Federation For Clinical Research. 50: 185-92
Ashley GA, Shabbeer J, Yasuda M, et al. (2001) Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. Journal of Human Genetics. 46: 192-6
Topaloglu AK, Ashley GA, Tong B, et al. (1999) Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Molecular Medicine (Cambridge, Mass.). 5: 806-11
Ashton-Prolla P, Ashley GA, Giugliani R, et al. (1999) Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). American Journal of Medical Genetics. 84: 420-4
Topaloglu AK, Ashley GA, Tong B, et al. (1999) Twenty Novel Mutations in the α-Galactosidase A Gene Causing Fabry Disease Molecular Medicine. 5: 806-811
Caggana M, Ashley GA, Desnick RJ, et al. (1997) Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. American Journal of Medical Genetics. 71: 329-35
Eng CM, Ashley GA, Burgert TS, et al. (1997) Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Molecular Medicine (Cambridge, Mass.). 3: 174-82
Eng CM, Ashley GA, Enriquez AL, et al. (1997) Fabry Disease: Eighteen Mutations in the α-Galactosidase A Gene Causing the Classic Phenotype. † 599 Pediatric Research. 41: 102-102
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