@article{lee2020mutations, author = "Y.-R. Lee and K. Khan and K. Armfield-Uhas and S. Srikanth and N. A. Thompson and M. Pardo and L. Yu and J. W. Norris and Y. Peng and K. W. Gripp and others", title = "Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy", year = 2020, journal = "Nature communications", publisher = "Nature Publishing Group", volume = 11, number = 1, pages = "1-17" } @article{spellicy2018key, author = "C. J. Spellicy and J. Norris and R. Bend and C. Bupp and P. Mester and T. Reynolds and J. Dean and Y. Peng and E. Alexov and C. E. Schwartz and others", title = "Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects", year = 2018, journal = "European Journal of Human Genetics", publisher = "Nature Publishing Group", volume = 26, number = 3, pages = "420-427" } @article{peng2016revealing, author = "Y. Peng and J. Norris and C. Schwartz and E. Alexov", title = "Revealing the effects of missense mutations causing Snyder-Robinson syndrome on the stability and dimerization of spermine synthase", year = 2016, journal = "International journal of molecular sciences", publisher = "Multidisciplinary Digital Publishing Institute", volume = 17, number = 1, pages = "77" } @article{zhang2013y328c, author = "Z. Zhang and J. Norris and V. Kalscheuer and T. Wood and L. Wang and C. Schwartz and E. Alexov and H. V. Esch", title = "A Y328C missense mutation in spermine synthase causes a mild form of Snyder--Robinson syndrome", year = 2013, journal = "Human molecular genetics", publisher = "Oxford University Press", volume = 22, number = 18, pages = "3789-3797" } @article{zhang2011silico, author = "Z. Zhang and J. Norris and C. Schwartz and E. Alexov", title = "In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in", year = 2011 } @article{zhang2011silico, author = "Z. Zhang and J. Norris and C. Schwartz and E. Alexov", title = "In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase", year = 2011, journal = "PloS one", publisher = "Public Library of Science", volume = 6, number = 5, pages = "e20373" }