Silvia De Rubeis

2013- Psychiatry Icahn School of Medicine at Mount Sinai, New York, NY, United States 
autism, genetics, fragile x
"Silvia De Rubeis"
Mean distance: 14.93 (cluster 6)
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Di Marino D, Chillemi G, De Rubeis S, et al. (2015) MD and Docking Studies Reveal That the Functional Switch of CYFIP1 is Mediated by a Butterfly-like Motion. Journal of Chemical Theory and Computation. 11: 3401-10
Harony-Nicolas H, De Rubeis S, Kolevzon A, et al. (2015) Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. Journal of Child Neurology
De Rubeis S, Buxbaum JD. (2015) Genetics and genomics of autism spectrum disorder: embracing complexity. Human Molecular Genetics
Fernández E, Li KW, Rajan N, et al. (2015) FXR2P Exerts a Positive Translational Control and Is Required for the Activity-Dependent Increase of PSD95 Expression. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 35: 9402-8
De Rubeis S, Buxbaum JD. (2015) Recent advances in the genetics of autism spectrum disorder. Current Neurology and Neuroscience Reports. 15: 36
Ionita-Laza I, Capanu M, De Rubeis S, et al. (2014) Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. Plos Genetics. 10: e1004729
Poultney CS, Goldberg AP, Drapeau E, et al. (2013) Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. American Journal of Human Genetics. 93: 607-19
De Rubeis S, Pasciuto E, Li KW, et al. (2013) CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation. Neuron. 79: 1169-82
De Rubeis S, Fernández E, Buzzi A, et al. (2012) Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis. Advances in Experimental Medicine and Biology. 970: 517-51
De Rubeis S, Bagni C. (2011) Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders. Journal of Neurodevelopmental Disorders. 3: 257-69
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