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International Journal of Molecular Sciences|January 14, 2016
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine SynthaseYunhui Peng, Joy Norris, Charles Schwartz, et al.
Plos One|June 8, 2011
In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthaseZhe Zhang, Joy Norris, Charles Schwartz, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 12, 2011
Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometryJohn Sowell, Joy Norris, Kelly Jones, et al.
Biomolecules|May 3, 2020
Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II CellsJarrod W Barnes, Megan Aarnio-Peterson, Joy Norris, et al.
Human Molecular Genetics|May 23, 2013
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndromeZhe Zhang, Joy Norris, Vera Kalscheuer, et al.
American Journal of Medical Genetics. Part A|July 31, 2013
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotypeAngela Peron, Luigina Spaccini, Joy Norris, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defectsCatherine J Spellicy, Joy Norris, Renee Bend, et al.
Molecular Genetics and Metabolism|June 6, 2026
Metabolic alterations in Snyder-Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatmentXianzun Tao, Bridgette Allen, Ethan Wilson, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndromeJessica S Albert, Nisan Bhattacharyya, Lynne A Wolfe, et al.
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