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Publications & Presentations
PubMed
- 20 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, Edythe Wiggs, Yvonne L. Latour, Sarah E. Thomas, Cindy Portner, David H. Adams, Gilbert ...> ;American Journal of Medical Genetics. Part A. 2016 Mar 1
- 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, David W. Draper, Elise D. Flynn, Marta Girdea, Rena A. Godfrey, Gretchen Golas, Cath...> ;Genetics in Medicine. 2016 Jun 1
- 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of NephrolithiasisGalina Nesterova, Cornelius F Boerkoel, Gretchen Golas, Michael T Collins, William A Gahl, Wendy Introne> ;Journal of the American Society of Nephrology.
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