| Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS M DeJesus-Hernandez, IR Mackenzie, BF Boeve, AL Boxer, M Baker, ... Neuron 72 (2), 245-256, 2011 | 5471 | 2011 |
| Strong association of de novo copy number mutations with autism J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin, T Walsh, ... Science 316 (5823), 445-449, 2007 | 3475 | 2007 |
| An anatomically comprehensive atlas of the adult human brain transcriptome MJ Hawrylycz, ES Lein, AL Guillozet-Bongaarts, EH Shen, L Ng, JA Miller, ... Nature 489 (7416), 391-399, 2012 | 2849 | 2012 |
| Advances in autism genetics: on the threshold of a new neurobiology BS Abrahams, DH Geschwind Nature reviews genetics 9 (5), 341-355, 2008 | 2577 | 2008 |
| De novo mutations revealed by whole-exome sequencing are strongly associated with autism SJ Sanders, MT Murtha, AR Gupta, JD Murdoch, MJ Raubeson, ... Nature 485 (7397), 237-241, 2012 | 2382 | 2012 |
| Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing BW Kunkle, B Grenier-Boley, R Sims, JC Bis, V Damotte, AC Naj, ... Nature genetics 51 (3), 414-430, 2019 | 2381 | 2019 |
| Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs B Devlin, JR Kelsoe, P Sklar, MJ Daly, MC O'Donovan, N Craddock, ... Nature genetics 45 (9), 984-994, 2013 | 2376 | 2013 |
| Cancerous stem cells can arise from pediatric brain tumors HD Hemmati, I Nakano, JA Lazareff, M Masterman-Smith, DH Geschwind, ... Proceedings of the National Academy of Sciences 100 (25), 15178-15183, 2003 | 2375 | 2003 |
| Functional impact of global rare copy number variation in autism spectrum disorders D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010 | 2343 | 2010 |
| Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus JM Parent, WY Timothy, RT Leibowitz, DH Geschwind, RS Sloviter, ... Journal of Neuroscience 17 (10), 3727-3738, 1997 | 2278 | 1997 |
| Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder D Demontis, RK Walters, J Martin, M Mattheisen, TD Als, E Agerbo, ... Nature genetics 51 (1), 63-75, 2019 | 2215 | 2019 |
| Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease AC Naj, G Jun, GW Beecham, LS Wang, BN Vardarajan, J Buros, ... Nature genetics 43 (5), 436-441, 2011 | 2193 | 2011 |
| Transcriptomic analysis of autistic brain reveals convergent molecular pathology I Voineagu, X Wang, P Johnston, JK Lowe, Y Tian, S Horvath, J Mill, ... Nature 474 (7351), 380-384, 2011 | 2059 | 2011 |
| 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), 431-444, 2019 | 2004 | 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, ... Cell 180 (3), 568-584. e23, 2020 | 1856 | 2020 |
| Autism spectrum disorders: developmental disconnection syndromes DH Geschwind, P Levitt Current opinion in neurobiology 17 (1), 103-111, 2007 | 1814 | 2007 |
| Mapping autism risk loci using genetic linkage and chromosomal rearrangements Nature genetics 39 (3), 319-328, 2007 | 1664 | 2007 |
| Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection AF Pardiñas, P Holmans, AJ Pocklington, V Escott-Price, S Ripke, ... Nature genetics 50 (3), 381-389, 2018 | 1569 | 2018 |
| Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek, KE Samocha, ... Neuron 87 (6), 1215-1233, 2015 | 1519 | 2015 |
| Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ... Neuron 70 (5), 863-885, 2011 | 1493 | 2011 |
Michael J. Gandal, MD/PhDWilliam & Noreen Hetznecker Associate Professor of Psychiatry, University of PennsylvaniaVerifisert e-postadresse på pennmedicine.upenn.edu