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

od Zhang, Zhe, Norris, Joy, Schwartz, Charles, Alexov, Emil
Izdano 2011

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase

od Peng, Yunhui, Norris, Joy, Schwartz, Charles, Alexov, Emil
izdano v Int J Mol Sci (2016)

Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells

od Barnes, Jarrod W., Aarnio-Peterson, Megan, Norris, Joy, Haskins, Mark, Flanagan-Steet, Heather, Steet, Richard
izdano v Biomolecules (2020)

A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome

od Zhang, Zhe, Norris, Joy, Kalscheuer, Vera, Wood, Tim, Wang, Lin, Schwartz, Charles, Alexov, Emil, Van Esch, Hilde
Izdano 2013

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects

od Spellicy, Catherine J., Norris, Joy, Bend, Renee, Bupp, Caleb, Mester, Paul, Reynolds, Tracy, Dean, Jane, Peng, Yunhui, Alexov, Emil, Schwartz, Charles E., Stevenson, Roger S., J. Friez, Michael
izdano v Eur J Hum Genet (2018)

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

od Garbern, James Y., Neumann, Manuela, Trojanowski, John Q., Lee, Virginia M.-Y., Feldman, Gerald, Norris, Joy W., Friez, Michael J., Schwartz, Charles E., Stevenson, Roger, Sima, Anders A. F.
Izdano 2010

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

od Albert, Jessica S, Bhattacharyya, Nisan, Wolfe, Lynne A, Bone, William P, Maduro, Valerie, Accardi, John, Adams, David R, Schwartz, Charles E, Norris, Joy, Wood, Tim, Gafni, Rachel I, Collins, Michael T, Tosi, Laura L, Markello, Thomas C, Gahl, William A, Boerkoel, Cornelius F
izdano v Orphanet J Rare Dis (2015)

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

od Hirose, Takuo, Cabrera-Socorro, Alfredo, Chitayat, David, Lemonnier, Thomas, Féraud, Olivier, Cifuentes-Diaz, Carmen, Gervasi, Nicolas, Mombereau, Cedric, Ghosh, Tanay, Stoica, Loredana, Bacha, Jeanne d’Arc Al, Yamada, Hiroshi, Lauterbach, Marcel A., Guillon, Marc, Kaneko, Kiriko, Norris, Joy W., Siriwardena, Komudi, Blasér, Susan, Teillon, Jérémie, Mendoza-Londono, Roberto, Russeau, Marion, Hadoux, Julien, Ito, Sadayoshi, Corvol, Pierre, Matheus, Maria G., Holden, Kenton R., Takei, Kohji, Emiliani, Valentina, Bennaceur-Griscelli, Annelise, Schwartz, Charles E., Nguyen, Genevieve, Groszer, Matthias
izdano v J Clin Invest (2019)

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

od Lee, Yu-Ri, Khan, Kamal, Armfield-Uhas, Kim, Srikanth, Sujata, Thompson, Nicola A., Pardo, Mercedes, Yu, Lu, Norris, Joy W., Peng, Yunhui, Gripp, Karen W., Aleck, Kirk A., Li, Chumei, Spence, Ed, Choi, Tae-Ik, Kwon, Soo Jeong, Park, Hee-Moon, Yu, Daseuli, Heo, Won Do, Mooney, Marie R., Baig, Shahid M., Wentzensen, Ingrid M., Telegrafi, Aida, McWalter, Kirsty, Moreland, Trevor, Roadhouse, Chelsea, Ramsey, Keri, Lyons, Michael J., Skinner, Cindy, Alexov, Emil, Katsanis, Nicholas, Stevenson, Roger E., Choudhary, Jyoti S., Adams, David J., Kim, Cheol-Hee, Davis, Erica E., Schwartz, Charles E.
izdano v Nat Commun (2020)