| Melanomas acquire resistance to B-RAF (V600E) inhibition by RTK or N-RAS upregulation R Nazarian, H Shi, QI Wang, X Kong, RC Koya, H Lee, Z Chen, MK Lee, ... Nature 468 (7326), 973-977, 2010 | 2644 | 2010 |
| Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning SJ Cokus, S Feng, X Zhang, Z Chen, B Merriman, CD Haudenschild, ... Nature 452 (7184), 215-219, 2008 | 2601 | 2008 |
| 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 | 2403 | 2013 |
| 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 | 2361 | 2010 |
| Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia T Walsh, JM McClellan, SE McCarthy, AM Addington, SB Pierce, ... science 320 (5875), 539-543, 2008 | 2152 | 2008 |
| Mapping autism risk loci using genetic linkage and chromosomal rearrangements Nature genetics 39 (3), 319-328, 2007 | 1670 | 2007 |
| Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays N Homer, S Szelinger, M Redman, D Duggan, W Tembe, J Muehling, ... PLoS genetics 4 (8), e1000167, 2008 | 1532 | 2008 |
| DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study GE Palomaki, EM Kloza, GM Lambert-Messerlian, JE Haddow, ... Genetics in medicine 13 (11), 913-920, 2011 | 1251 | 2011 |
| Assessing the significance of chromosomal aberrations in cancer: methodology and application to glioma R Beroukhim, G Getz, L Nghiemphu, J Barretina, T Hsueh, D Linhart, ... Proceedings of the National Academy of Sciences 104 (50), 20007-20012, 2007 | 1251 | 2007 |
| High-throughput oncogene mutation profiling in human cancer RK Thomas, AC Baker, RM DeBiasi, W Winckler, T LaFramboise, WM Lin, ... Nature genetics 39 (3), 347-351, 2007 | 1172 | 2007 |
| Clinical exome sequencing for genetic identification of rare Mendelian disorders H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci, F Quintero-Rivera, ... Jama 312 (18), 1880-1887, 2014 | 1118 | 2014 |
| Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene M Alarcón, BS Abrahams, JL Stone, JA Duvall, JV Perederiy, JM Bomar, ... The American Journal of Human Genetics 82 (1), 150-159, 2008 | 1034 | 2008 |
| Gene expression profiling of gliomas strongly predicts survival WA Freije, FE Castro-Vargas, Z Fang, S Horvath, T Cloughesy, LM Liau, ... Cancer research 64 (18), 6503-6510, 2004 | 887 | 2004 |
| Melanoma whole-exome sequencing identifies V600EB-RAF amplification-mediated acquired B-RAF inhibitor resistance H Shi, G Moriceau, X Kong, MK Lee, H Lee, RC Koya, C Ng, T Chodon, ... Nature communications 3 (1), 724, 2012 | 833 | 2012 |
| DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study GE Palomaki, C Deciu, EM Kloza, GM Lambert-Messerlian, JE Haddow, ... Genetics in medicine 14 (3), 296-305, 2012 | 783 | 2012 |
| Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target S Horvath, B Zhang, M Carlson, KV Lu, S Zhu, RM Felciano, MF Laurance, ... Proceedings of the National Academy of Sciences 103 (46), 17402-17407, 2006 | 761 | 2006 |
| BFAST: an alignment tool for large scale genome resequencing N Homer, B Merriman, SF Nelson PloS one 4 (11), e7767, 2009 | 749 | 2009 |
| A genome-wide scan for common alleles affecting risk for autism R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ... Human molecular genetics 19 (20), 4072-4082, 2010 | 737 | 2010 |
| Genome sequencing highlights the dynamic early history of dogs AH Freedman, I Gronau, RM Schweizer, D Ortega-Del Vecchyo, E Han, ... PLoS genetics 10 (1), e1004016, 2014 | 716 | 2014 |
| Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder BM Neale, SE Medland, S Ripke, P Asherson, B Franke, KP Lesch, ... Journal of the American Academy of Child & Adolescent Psychiatry 49 (9), 884-897, 2010 | 640 | 2010 |
