| Analysis of protein-coding genetic variation in 60,706 humans M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ... Nature 536 (7616), 285-291, 2016 | 8860 | 2016 |
| Biological insights from 108 schizophrenia-associated genetic loci C Pantelis, GN Papadimitriou, S Papiol, E Parkhomenko, MT Pato, ... Nature 511 (7510), 421-427, 2014 | 6328 | 2014 |
| Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence G Genovese, AK Kähler, RE Handsaker, J Lindberg, SA Rose, ... New England Journal of Medicine 371 (26), 2477-2487, 2014 | 2543 | 2014 |
| 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 | 2190 | 2014 |
| Patterns and rates of exonic de novo mutations in autism spectrum disorders BM Neale, Y Kou, L Liu, A Ma’Ayan, KE Samocha, A Sabo, CF Lin, ... Nature 485 (7397), 242-245, 2012 | 1845 | 2012 |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia S Ripke, C O'dushlaine, K Chambert, JL Moran, AK Kähler, S Akterin, ... Nature genetics 45 (10), 1150-1159, 2013 | 1586 | 2013 |
| De novo mutations in schizophrenia implicate synaptic networks M Fromer, AJ Pocklington, DH Kavanagh, HJ Williams, S Dwyer, ... Nature 506 (7487), 179-184, 2014 | 1575 | 2014 |
| A polygenic burden of rare disruptive mutations in schizophrenia SM Purcell, JL Moran, M Fromer, D Ruderfer, N Solovieff, P Roussos, ... Nature 506 (7487), 185-190, 2014 | 1416 | 2014 |
| A systematic survey of loss-of-function variants in human protein-coding genes DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ... Science 335 (6070), 823-828, 2012 | 1216 | 2012 |
| 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 | 959 | 2020 |
| Modeling linkage disequilibrium increases accuracy of polygenic risk scores BJ Vilhjálmsson, J Yang, HK Finucane, A Gusev, S Lindström, S Ripke, ... The american journal of human genetics 97 (4), 576-592, 2015 | 954 | 2015 |
| Gene expression elucidates functional impact of polygenic risk for schizophrenia M Fromer, P Roussos, SK Sieberts, JS Johnson, DH Kavanagh, ... Nature neuroscience 19 (11), 1442-1453, 2016 | 822 | 2016 |
| Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects CR Marshall, DP Howrigan, D Merico, B Thiruvahindrapuram, W Wu, ... Nature genetics 49 (1), 27-35, 2017 | 672 | 2017 |
| Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases A Gusev, SH Lee, G Trynka, H Finucane, BJ Vilhjálmsson, H Xu, C Zang, ... The American Journal of Human Genetics 95 (5), 535-552, 2014 | 570 | 2014 |
| Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth M Fromer, JL Moran, K Chambert, E Banks, SE Bergen, DM Ruderfer, ... The American Journal of Human Genetics 91 (4), 597-607, 2012 | 552 | 2012 |
| Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia G Genovese, M Fromer, EA Stahl, DM Ruderfer, K Chambert, M Landén, ... Nature neuroscience 19 (11), 1433-1441, 2016 | 378 | 2016 |
| Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes DM Ruderfer, S Ripke, A McQuillin, J Boocock, EA Stahl, JMW Pavlides, ... Cell 173 (7), 1705-1715. e16, 2018 | 377 | 2018 |
| Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases R Chen, L Shi, J Hakenberg, B Naughton, P Sklar, J Zhang, H Zhou, ... Nature biotechnology 34 (5), 531-538, 2016 | 295 | 2016 |
| Effect of predicted protein-truncating genetic variants on the human transcriptome MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ... Science 348 (6235), 666-669, 2015 | 265 | 2015 |
| Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders ET Lim, S Raychaudhuri, SJ Sanders, C Stevens, A Sabo, DG MacArthur, ... Neuron 77 (2), 235-242, 2013 | 263 | 2013 |
Shaun PurcellSleep & Neurogenetics Lab, Brigham & Women's Hospital, BostonVerified email at bwh.harvard.edu
