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Publications & Presentations
PubMed
- 69 citationsComputational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P. Bone, Nicole L. Washington, Orion J. Buske, David R. Adams, Joie Davis
Genetics in Medicine. 2016-06-01 - 22 citationsMRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.Debra S Regier, Hyuk Joon Kwon, Jean M. Johnston, Gretchen Golas, Sandra Yang
American Journal of Medical Genetics. Part A. 2016-03-01
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