Synaptic, transcriptional and chromatin genes disrupted in autism S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ... Nature 515 (7526), 209-215, 2014 | 2794 | 2014 |
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, ... Cell 180 (3), 568-584. e23, 2020 | 1766 | 2020 |
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ... The American Journal of Human Genetics 94 (5), 677-694, 2014 | 1083 | 2014 |
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders CS Leblond, J Heinrich, R Delorme, C Proepper, C Betancur, G Huguet, ... PLoS genetics 8 (2), e1002521, 2012 | 477 | 2012 |
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), 978-985, 2017 | 472 | 2017 |
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium Molecular autism 8, 1-17, 2017 | 344 | 2017 |
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), 1217-1224, 2017 | 276 | 2017 |
The neurobiological basis of human aggression: a review on genetic and epigenetic mechanisms R Waltes, AG Chiocchetti, CM Freitag American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 171 …, 2016 | 213 | 2016 |
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia AT Pagnamenta, E Bacchelli, MV de Jonge, G Mirza, TS Scerri, F Minopoli, ... Biological psychiatry 68 (4), 320-328, 2010 | 169 | 2010 |
Recessive gene disruptions in autism spectrum disorder RN Doan, ET Lim, S De Rubeis, C Betancur, DJ Cutler, AG Chiocchetti, ... Nature genetics 51 (7), 1092-1098, 2019 | 145 | 2019 |
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism SM Klauck, B Felder, A Kolb-Kokocinski, C Schuster, A Chiocchetti, ... Molecular psychiatry 11 (12), 1073-1084, 2006 | 131 | 2006 |
Ribosomal proteins Rpl10 and Rps6 are potent regulators of yeast replicative life span A Chiocchetti, J Zhou, H Zhu, T Karl, O Haubenreisser, M Rinnerthaler, ... Experimental gerontology 42 (4), 275-286, 2007 | 129 | 2007 |
Relationship between cortical gyrification, white matter connectivity, and autism spectrum disorder C Ecker, D Andrews, F Dell'Acqua, E Daly, C Murphy, M Catani, ... Cerebral Cortex 26 (7), 3297-3309, 2016 | 91 | 2016 |
Conduct disorder in adolescent females: current state of research and study design of the FemNAT-CD consortium CM Freitag, K Konrad, C Stadler, SA De Brito, A Popma, SC Herpertz, ... European child & adolescent psychiatry 27 (9), 1077-1093, 2018 | 80 | 2018 |
The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism D Hadley, Z Wu, C Kao, A Kini, A Mohamed-Hadley, K Thomas, ... Nature communications 5 (1), 1-10, 2014 | 73 | 2014 |
Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders R Waltes, E Duketis, M Knapp, RJL Anney, G Huguet, S Schlitt, ... Human genetics 133 (6), 781-792, 2014 | 69 | 2014 |
Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectual disability with either autism or cerebellar ataxia C Guissart, X Latypova, P Rollier, TN Khan, H Stamberger, K McWalter, ... The American Journal of Human Genetics 102 (5), 744-759, 2018 | 65 | 2018 |
Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk FK Satterstrom, JA Kosmicki, J Wang, MS Breen, SD Rubeis, JY An, ... BioRxiv, 484113, 2018 | 50 | 2018 |
Meta‐analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder TM Kranz, M Kopp, R Waltes, M Sachse, E Duketis, TA Jarczok, ... Autism Research 9 (10), 1036-1045, 2016 | 49 | 2016 |
Lack of replication of previous autism spectrum disorder GWAS hits in European populations B Torrico, AG Chiocchetti, E Bacchelli, E Trabetti, A Hervás, B Franke, ... Autism research 10 (2), 202-211, 2017 | 47 | 2017 |