Joy Norris

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

James Garbern, Manuela Neumann, John Q. Trojanowski et al. · Brain · 2010 · 120 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Yu‐Ri Lee, Kamal Khan, Kim Armfield-Uhas et al. · Nature Communications · 2020 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase

Zhe Zhang, Joy Norris, Charles E. Schwartz et al. · PLoS ONE · 2011 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration

Takuo Hirose, Alfredo Cabrera‐Socorro, David Chitayat et al. · Journal of Clinical Investigation · 2019 · 58 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype

Angela Peron, Luigina Spaccini, Joy Norris et al. · American Journal of Medical Genetics Part A · 2013 · 40 citations

Life Sciences, Genetics, Molecular Genetics +13