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Silvia De Rubeis - Publications

Affiliations: 
2013- Psychiatry Icahn School of Medicine at Mount Sinai, New York, NY, United States 
Area:
autism, genetics, fragile x
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57/66 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
2023 Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, Marcantoni A, Biamino E, Spada M, Hiatt SM, Kelley WV, ... ... De Rubeis S, et al. Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100922. PMID 37403762 DOI: 10.1016/j.gim.2023.100922  0.495
2023 Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, ... ... De Rubeis S, et al. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American Journal of Human Genetics. PMID 37196654 DOI: 10.1016/j.ajhg.2023.04.008  0.551
2023 Mercaldo V, Vidimova B, Gastaldo D, Fernández E, Lo AC, Cencelli G, Pedini G, De Rubeis S, Longo F, Klann E, Smit AB, Grant SGN, Achsel T, Bagni C. Altered striatal actin dynamics drives behavioral inflexibility in a mouse model of fragile X syndrome. Neuron. PMID 36996810 DOI: 10.1016/j.neuron.2023.03.008  0.583
2023 Giovenino C, Trajkova S, Pavinato L, Cardaropoli S, Pullano V, Ferrero E, Sukarova-Angelovska E, Carestiato S, Salmin P, Rinninella A, Battaglia A, Bertoli L, Fadda A, Palermo F, Carli D, ... ... De Rubeis S, et al. Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. European Journal of Human Genetics : Ejhg. PMID 36879111 DOI: 10.1038/s41431-023-01324-w  0.451
2022 Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, ... ... De Rubeis S, et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature Genetics. PMID 35982160 DOI: 10.1038/s41588-022-01104-0  0.565
2022 Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, ... ... De Rubeis S, et al. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Brain : a Journal of Neurology. PMID 35979925 DOI: 10.1093/brain/awac278  0.518
2022 Brea-Fernández AJ, Álvarez-Barona M, Amigo J, Tubío-Fungueiriño M, Caamaño P, Fernández-Prieto M, Barros F, De Rubeis S, Buxbaum J, Carracedo Á. Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability. European Journal of Human Genetics : Ejhg. PMID 35322241 DOI: 10.1038/s41431-022-01087-w  0.48
2021 Mahjani B, De Rubeis S, Gustavsson Mahjani C, Mulhern M, Xu X, Klei L, Satterstrom FK, Fu J, Talkowski ME, Reichenberg A, Sandin S, Hultman CM, Grice DE, Roeder K, Devlin B, et al. Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder. Molecular Autism. 12: 65. PMID 34615535 DOI: 10.1186/s13229-021-00465-3  0.535
2021 Klei L, McClain LL, Mahjani B, Panayidou K, De Rubeis S, Grahnat AS, Karlsson G, Lu Y, Melhem N, Xu X, Reichenberg A, Sandin S, Hultman CM, Buxbaum JD, Roeder K, et al. How rare and common risk variation jointly affect liability for autism spectrum disorder. Molecular Autism. 12: 66. PMID 34615521 DOI: 10.1186/s13229-021-00466-2  0.505
2021 Boitnott A, Garcia-Forn M, Ung DC, Niblo K, Mendonca D, Park Y, Flores M, Maxwell S, Ellegood J, Qiu LR, Grice DE, Lerch JP, Rasin MR, Buxbaum JD, Drapeau E, ... De Rubeis S, et al. Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome. Biological Psychiatry. PMID 34344536 DOI: 10.1016/j.biopsych.2021.05.027  0.491
2021 Pavinato L, Nematian-Ardestani E, Zonta A, De Rubeis S, Buxbaum J, Mancini C, Bruselles A, Tartaglia M, Pessia M, Tucker SJ, D'Adamo MC, Brusco A. Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity. International Journal of Molecular Sciences. 22. PMID 34199759 DOI: 10.3390/ijms22116064  0.509
2021 Tang L, Levy T, Guillory S, Halpern D, Zweifach J, Giserman-Kiss I, Foss-Feig JH, Frank Y, Lozano R, Belani P, Layton C, Lerman B, Frowner E, Breen MS, De Rubeis S, et al. Prospective and detailed behavioral phenotyping in DDX3X syndrome. Molecular Autism. 12: 36. PMID 33993884 DOI: 10.1186/s13229-021-00431-z  0.521
2021 Pavinato L, Trajkova S, Grosso E, Giorgio E, Bruselles A, Radio FC, Pippucci T, Dimartino P, Tartaglia M, Petlichkovski A, De Rubeis S, Buxbaum J, Ferrero GB, Keller R, Brusco A. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. American Journal of Medical Genetics. Part A. PMID 33675273 DOI: 10.1002/ajmg.a.62157  0.478
2021 Siper PM, Layton C, Levy T, Lurie S, Benrey N, Zweifach J, Rowe M, Tang L, Guillory S, Halpern D, Giserman-Kiss I, Del Pilar Trelles M, Foss-Feig JH, De Rubeis S, Tavassoli T, et al. Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis. Genes. 12. PMID 33673501 DOI: 10.3390/genes12030351  0.482
2020 Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, ... ... De Rubeis S, et al. Functional analysis of variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. Journal of Medical Genetics. PMID 33323470 DOI: 10.1136/jmedgenet-2020-107281  0.487
2020 Garcia-Forn M, Boitnott A, Akpinar Z, De Rubeis S. Linking Autism Risk Genes to Disruption of Cortical Development. Cells. 9. PMID 33218123 DOI: 10.3390/cells9112500  0.337
2020 Garcia-Forn M, Boitnott A, Akpinar Z, De Rubeis S. Linking Autism Risk Genes to Disruption of Cortical Development. Cells. 9. PMID 33218123 DOI: 10.3390/cells9112500  0.337
2020 Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, ... ... De Rubeis S, et al. Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. American Journal of Human Genetics. PMID 32758449 DOI: 10.1016/J.Ajhg.2020.07.003  0.513
2020 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. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nature Neuroscience. PMID 32665711 DOI: 10.1038/S41593-020-0681-Z  0.47
2020 Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. PMID 31981491 DOI: 10.1016/J.Cell.2019.12.036  0.557
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  0.493
2019 Sullivan JM, De Rubeis S, Schaefer A. Convergence of spectrums: neuronal gene network states in autism spectrum disorder. Current Opinion in Neurobiology. 59: 102-111. PMID 31220745 DOI: 10.1016/j.conb.2019.04.011  0.387
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  0.568
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  0.535
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  0.533
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  0.473
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  0.537
2018 Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, ... ... De Rubeis S, et al. Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360. PMID 29930110 DOI: 10.1126/Science.Aap8757  0.35
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  0.492
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  0.531
2017 Golden CE, Buxbaum JD, De Rubeis S. Disrupted circuits in mouse models of autism spectrum disorder and intellectual disability. Current Opinion in Neurobiology. 48: 106-112. PMID 29222989 DOI: 10.1016/j.conb.2017.11.006  0.554
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  0.56
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  0.543
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  0.515
2017 Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD, Hof PR. Autism spectrum disorder: neuropathology and animal models. Acta Neuropathologica. PMID 28584888 DOI: 10.1007/S00401-017-1736-4  0.547
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  0.516
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  0.305
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  0.51
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  0.554
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  0.534
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  0.565
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  0.537
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  0.559
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  0.555
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  0.515
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  0.515
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  0.636
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  0.608
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  0.529
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  0.645
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  0.628
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  0.597
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  0.507
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  0.558
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  0.501
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  0.571
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  0.555
Low-probability matches (unlikely to be authored by this person)
2023 Salamon I, Park Y, Miškić T, Kopić J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judaš M, Millonig JH, Kostović I, De Rubeis S, et al. Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Nature Communications. 14: 6025. PMID 37758766 DOI: 10.1038/s41467-023-41730-8  0.285
2020 Popovitchenko T, Park Y, Page NF, Luo X, Krsnik Z, Liu Y, Salamon I, Stephenson JD, Kraushar ML, Volk NL, Patel SM, Wijeratne HRS, Li D, Suthar KS, Wach A, ... ... De Rubeis S, et al. Translational derepression of Elavl4 isoforms at their alternative 5' UTRs determines neuronal development. Nature Communications. 11: 1674. PMID 32245946 DOI: 10.1038/S41467-020-15412-8  0.284
2021 Pavinato L, Trajkova S, Grosso E, Giorgio E, Bruselles A, Radio FC, Pippucci T, Dimartino P, Tartaglia M, Petlichkovski A, De Rubeis S, Buxbaum J, Ferrero GB, Keller R, Brusco A. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. American Journal of Medical Genetics. Part A. PMID 33675273 DOI: 10.1002/ajmg.a.62157  0.269
2023 Oliva F, Musiani F, Giorgetti A, De Rubeis S, Sorokina O, Armstrong DJ, Carloni P, Ruggerone P. Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases. Frontiers in Chemistry. 10: 1059593. PMID 36700074 DOI: 10.3389/fchem.2022.1059593  0.213
2023 Torre D, Fstkchyan YS, Ho JSY, Cheon Y, Patel RS, Degrace EJ, Mzoughi S, Schwarz M, Mohammed K, Seo JS, Romero-Bueno R, Demircioglu D, Hasson D, Tang W, Mahajani SU, ... ... De Rubeis S, et al. Nuclear RNA catabolism controls endogenous retroviruses, gene expression asymmetry, and dedifferentiation. Molecular Cell. PMID 37995687 DOI: 10.1016/j.molcel.2023.10.036  0.196
2022 Campisi L, Chizari S, Ho JSY, Gromova A, Arnold F, Mosca L, Mei X, Fstkchyan Y, Torre D, Beharry C, Garcia-Forn M, Jiménez-Alcázar M, Korobeynikov VA, Prazich J, Fayad ZA, ... ... De Rubeis S, et al. Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4. Nature. PMID 35732742 DOI: 10.1038/s41586-022-04844-5  0.153
2012 De Rubeis S, Granic I. Understanding treatment effectiveness for aggressive youth: the importance of regulation in mother-child interactions. Journal of Family Psychology : Jfp : Journal of the Division of Family Psychology of the American Psychological Association (Division 43). 26: 66-75. PMID 22309818 DOI: 10.1037/A0026837  0.106
2009 De Rubeis S, Hollenstein T. Individual differences in shame and depressive symptoms during early adolescence Personality and Individual Differences. 46: 477-482. DOI: 10.1016/J.Paid.2008.11.019  0.037
2022 Campisi L, Chizari S, Ho JSY, Gromova A, Arnold FJ, Mosca L, Mei X, Fstkchyan Y, Torre D, Beharry C, Garcia-Forn M, Jiménez-Alcázar M, Korobeynikov VA, Prazich J, Fayad ZA, ... ... De Rubeis S, et al. Author Correction: Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4. Nature. PMID 35945277 DOI: 10.1038/s41586-022-05184-0  0.031
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