Silvia De Rubeis - Publications

2013- Psychiatry Icahn School of Medicine at Mount Sinai, New York, NY, United States 
autism, genetics, fragile x

33 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Mahjani B, Dellenvall K, Grahnat AS, Karlsson G, Tuuliainen A, Reichert J, Mahjani CG, Klei L, De Rubeis S, Reichenberg A, Devlin B, Hultman CM, Buxbaum JD, Sandin S, Grice DE. Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS). Social Psychiatry and Psychiatric Epidemiology. PMID 31907560 DOI: 10.1007/s00127-019-01822-7  0.64
2019 Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW. Recessive gene disruptions in autism spectrum disorder. Nature Genetics. PMID 31209396 DOI: 10.1038/s41588-019-0433-8  0.64
2019 Golden CEM, Breen MS, Koro L, Sonar S, Niblo K, Browne A, Burlant N, Di Marino D, De Rubeis S, Baxter MG, Buxbaum JD, Harony-Nicolas H. Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats. Cerebral Cortex (New York, N.Y. : 1991). PMID 30877790 DOI: 10.1093/cercor/bhz029  0.64
2019 Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, Agerbo E, Andreassen OA, Anney R, Awashti S, Belliveau R, Bettella F, Buxbaum JD, Bybjerg-Grauholm J, ... ... De Rubeis S, et al. Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics. PMID 30804558 DOI: 10.1038/s41588-019-0344-8  0.64
2018 Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, ... ... De Rubeis S, et al. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports. 25: 3544. PMID 30566877 DOI: 10.1016/j.celrep.2018.12.024  0.64
2018 Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, ... ... De Rubeis S, et al. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports. 24: 3441-3454.e12. PMID 30257206 DOI: 10.1016/j.celrep.2018.08.082  0.64
2018 Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, et al. Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications. 9: 2064. PMID 29802345 DOI: 10.1038/s41467-018-04540-x  0.64
2018 De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL, Betancur C, Buxbaum JD, Kolevzon A. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by point mutations. Molecular Autism. 9: 31. PMID 29719671 DOI: 10.1186/s13229-018-0205-9  0.64
2017 Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, et al. Prospective investigation of FOXP1 syndrome. Molecular Autism. 8: 57. PMID 29090079 DOI: 10.1186/s13229-017-0172-6  0.64
2017 Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, et al. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nature Neuroscience. PMID 28714951 DOI: 10.1038/nn.4598  0.64
2017 Alfieri A, Sorokina O, Adrait A, Angelini C, Russo I, Morellato A, Matteoli M, Menna E, Boeri Erba E, McLean C, Armstrong JD, Ala U, Buxbaum JD, Brusco A, Couté Y, ... De Rubeis S, et al. Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders. Frontiers in Molecular Neuroscience. 10: 212. PMID 28713243 DOI: 10.3389/fnmol.2017.00212  0.64
2017 Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, ... ... De Rubeis S, et al. CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes. Clinical Genetics. PMID 28295210 DOI: 10.1111/cge.13009  0.64
2015 Biamino E, Di Gregorio E, Belligni EF, Keller R, Riberi E, Gandione M, Calcia A, Mancini C, Giorgio E, Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S, Cirillo Silengo M, et al. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26620927 DOI: 10.1002/ajmg.b.32406  1
2015 Di Marino D, Chillemi G, De Rubeis S, Tramontano A, Achsel T, Bagni C. 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. PMID 26575774 DOI: 10.1021/ct500431h  1
2015 Harony-Nicolas H, De Rubeis S, Kolevzon A, Buxbaum JD. Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. Journal of Child Neurology. PMID 26350728 DOI: 10.1177/0883073815600872  1
2015 De Rubeis S, Buxbaum JD. Genetics and genomics of autism spectrum disorder: embracing complexity. Human Molecular Genetics. PMID 26188008 DOI: 10.1093/hmg/ddv273  1
2015 Fernández E, Li KW, Rajan N, De Rubeis S, Fiers M, Smit AB, Achsel T, Bagni C. 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. PMID 26109663 DOI: 10.1523/JNEUROSCI.4800-14.2015  1
2015 De Rubeis S, Buxbaum JD. Recent advances in the genetics of autism spectrum disorder. Current Neurology and Neuroscience Reports. 15: 36. PMID 25946996 DOI: 10.1007/s11910-015-0553-1  1
2015 Kozol RA, Cukier HN, Zou B, Mayo V, De Rubeis S, Cai G, Griswold AJ, Whitehead PL, Haines JL, Gilbert JR, Cuccaro ML, Martin ER, Baker JD, Buxbaum JD, Pericak-Vance MA, et al. Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. Human Molecular Genetics. 24: 4006-23. PMID 25882707 DOI: 10.1093/hmg/ddv138  1
2015 Braat S, D'Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, Willemsen R, Bagni C, Van Dam D, De Deyn PP, Kooy RF. The GABAA Receptor is an FMRP Target with Therapeutic Potential in Fragile X Syndrome. Cell Cycle (Georgetown, Tex.). 0. PMID 25790165 DOI: 10.4161/15384101.2014.989114  1
2014 Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD. 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. PMID 25502226 DOI: 10.1371/journal.pgen.1004729  1
2014 De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515: 209-15. PMID 25363760 DOI: 10.1038/nature13772  1
2013 Poultney CS, Goldberg AP, Drapeau E, Kou Y, Harony-Nicolas H, Kajiwara Y, De Rubeis S, Durand S, Stevens C, Rehnström K, Palotie A, Daly MJ, Ma'ayan A, Fromer M, Buxbaum JD. Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. American Journal of Human Genetics. 93: 607-19. PMID 24094742 DOI: 10.1016/j.ajhg.2013.09.001  1
2013 De Rubeis S, Pasciuto E, Li KW, Fernández E, Di Marino D, Buzzi A, Ostroff LE, Klann E, Zwartkruis FJ, Komiyama NH, Grant SG, Poujol C, Choquet D, Achsel T, Posthuma D, et al. CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation. Neuron. 79: 1169-82. PMID 24050404 DOI: 10.1016/j.neuron.2013.06.039  1
2013 He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. Plos Genetics. 9: e1003671. PMID 23966865 DOI: 10.1371/journal.pgen.1003671  1
2012 De Rubeis S, Fernández E, Buzzi A, Di Marino D, Bagni C. 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. PMID 22351071 DOI: 10.1007/978-3-7091-0932-8_23  1
2011 De Rubeis S, Bagni C. Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders. Journal of Neurodevelopmental Disorders. 3: 257-69. PMID 21842222 DOI: 10.1007/s11689-011-9087-2  1
2011 Tassone F, De Rubeis S, Carosi C, La Fata G, Serpa G, Raske C, Willemsen R, Hagerman PJ, Bagni C. Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles. Nucleic Acids Research. 39: 6172-85. PMID 21478165 DOI: 10.1093/nar/gkr100  1
2011 De Rubeis S, Bagni C. Identification and characterization of protein complexes from total brain and synaptoneurosomes: Heterogeneity of molecular complexes in distinct subcellular domains Neuromethods. 57: 69-79. DOI: 10.1007/978-1-61779-111-6_6  1
2010 De Rubeis S, Bagni C. Fragile X mental retardation protein control of neuronal mRNA metabolism: Insights into mRNA stability. Molecular and Cellular Neurosciences. 43: 43-50. PMID 19837168 DOI: 10.1016/j.mcn.2009.09.013  1
2009 Fazi B, Melino S, De Rubeis S, Bagni C, Paci M, Piacentini M, Di Sano F. Acetylation of RTN-1C regulates the induction of ER stress by the inhibition of HDAC activity in neuroectodermal tumors. Oncogene. 28: 3814-24. PMID 19668229 DOI: 10.1038/onc.2009.233  1
2008 Napoli I, Mercaldo V, Boyl PP, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, Witke W, Costa-Mattioli M, Sonenberg N, Achsel T, Bagni C. The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell. 134: 1042-54. PMID 18805096 DOI: 10.1016/j.cell.2008.07.031  1
2007 Zalfa F, Eleuteri B, Dickson KS, Mercaldo V, De Rubeis S, di Penta A, Tabolacci E, Chiurazzi P, Neri G, Grant SG, Bagni C. A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability. Nature Neuroscience. 10: 578-87. PMID 17417632 DOI: 10.1038/nn1893  1
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