| Synaptic, transcriptional and chromatin genes disrupted in autism S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, AE Cicek, ... Nature 515 (7526), 209, 2014 | 2945 | 2014 |
| Identification of common genetic risk variants for autism spectrum disorder J Grove, S Ripke, TD Als, M Mattheisen, RK Walters, H Won, J Pallesen, ... Nature genetics 51 (3), 431, 2019 | 2169 | 2019 |
| Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ... | 2028 | 2019 |
| Analysis of shared heritability in common disorders of the brain V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ... Science 360 (6395), eaap8757, 2018 | 1545 | 2018 |
| Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ... Cell 179 (7), 1469-1482. e11, 2019 | 1199 | 2019 |
| The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP I Napoli, V Mercaldo, PP Boyl, B Eleuteri, F Zalfa, S De Rubeis, ... Cell 134 (6), 1042-1054, 2008 | 737 | 2008 |
| Autism spectrum disorder: neuropathology and animal models M Varghese, N Keshav, S Jacot-Descombes, T Warda, B Wicinski, ... Acta neuropathologica 134 (4), 537-566, 2017 | 539 | 2017 |
| Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ... Nature genetics 49 (7), 978, 2017 | 501 | 2017 |
| A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability F Zalfa, B Eleuteri, KS Dickson, V Mercaldo, S De Rubeis, A di Penta, ... Nature neuroscience 10 (5), 578, 2007 | 422 | 2007 |
| Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes X He, SJ Sanders, L Liu, S De Rubeis, ET Lim, JS Sutcliffe, ... PLoS genetics 9 (8), e1003671, 2013 | 319 | 2013 |
| CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation S De Rubeis, E Pasciuto, KW Li, E Fernández, D Di Marino, A Buzzi, ... Neuron 79 (6), 1169-1182, 2013 | 317 | 2013 |
| Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder ET Lim, M Uddin, S De Rubeis, Y Chan, AS Kamumbu, X Zhang, ... Nature neuroscience 20 (9), 1217, 2017 | 309 | 2017 |
| Genetics and genomics of autism spectrum disorder: embracing complexity S De Rubeis, JD Buxbaum Human molecular genetics 24 (R1), R24-R31, 2015 | 285 | 2015 |
| Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations S De Rubeis, PM Siper, A Durkin, J Weissman, F Muratet, D Halpern, ... Molecular autism 9 (1), 31, 2018 | 196 | 2018 |
| Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder CS Poultney, AP Goldberg, E Drapeau, Y Kou, H Harony-Nicolas, ... The American Journal of Human Genetics 93 (4), 607-619, 2013 | 190 | 2013 |
| Recessive gene disruptions in autism spectrum disorder RN Doan, ET Lim, S De Rubeis, C Betancur, DJ Cutler, AG Chiocchetti, ... Nature genetics, 1, 2019 | 164 | 2019 |
| Fragile X mental retardation protein control of neuronal mRNA metabolism: Insights into mRNA stability S De Rubeis, C Bagni Molecular and Cellular Neuroscience 43 (1), 43-50, 2010 | 155 | 2010 |
| De novo sequence and copy number variants are strongly associated with Tourette disorder and implicate cell polarity in pathogenesis S Wang, JD Mandell, Y Kumar, N Sun, MT Morris, J Arbelaez, C Nasello, ... Cell reports 24 (13), 3441-3454. e12, 2018 | 133 | 2018 |
| Common risk variants identified in autism spectrum disorder J Grove, S Ripke, TD Als, M Mattheisen, R Walters, H Won, J Pallesen, ... BioRxiv, 224774, 2017 | 117 | 2017 |
| Identification of rare de novo epigenetic variations in congenital disorders M Barbosa, RS Joshi, P Garg, A Martin-Trujillo, N Patel, B Jadhav, ... Nature communications 9 (1), 2064, 2018 | 95 | 2018 |
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai, New York, NYVerified email at mssm.edu