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| An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature, 2012 | 9315 | 2012 |
| Finishing the euchromatic sequence of the human genome International Human Genome Sequencing Consortium Nature 431 (7011), 931, 2004 | 3735 | 2004 |
| Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease S Romeo, J Kozlitina, C Xing, A Pertsemlidis, D Cox, LA Pennacchio, ... Nature genetics 40 (12), 1461, 2008 | 1922 | 2008 |
| A common allele on chromosome 9 associated with coronary heart disease R McPherson, A Pertsemlidis, N Kavaslar, A Stewart, R Roberts, DR Cox, ... Science 316 (5830), 1488-1491, 2007 | 1781 | 2007 |
| ChIP-seq accurately predicts tissue-specific activity of enhancers A Visel, MJ Blow, Z Li, T Zhang, JA Akiyama, A Holt, I Plajzer-Frick, ... Nature 457 (7231), 854, 2009 | 1472 | 2009 |
| The amphioxus genome and the evolution of the chordate karyotype NH Putnam, T Butts, DEK Ferrier, RF Furlong, U Hellsten, T Kawashima, ... Nature 453 (7198), 1064, 2008 | 1355 | 2008 |
| An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing LA Pennacchio, M Olivier, JA Hubacek, JC Cohen, DR Cox, JC Fruchart, ... Science 294 (5540), 169-173, 2001 | 1119 | 2001 |
| In vivo enhancer analysis of human conserved non-coding sequences LA Pennacchio, N Ahituv, AM Moses, S Prabhakar, MA Nobrega, ... Nature 444 (7118), 499, 2006 | 1067 | 2006 |
| Metagenomic discovery of biomass-degrading genes and genomes from cow rumen M Hess, A Sczyrba, R Egan, TW Kim, H Chokhawala, G Schroth, S Luo, ... Science 331 (6016), 463-467, 2011 | 1019 | 2011 |
| Guidelines for investigating causality of sequence variants in human disease DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ... Nature 508 (7497), 469, 2014 | 929 | 2014 |
| Dicer, Drosha, and outcomes in patients with ovarian cancer WM Merritt, YG Lin, LY Han, AA Kamat, WA Spannuth, R Schmandt, ... New England Journal of Medicine 359 (25), 2641-2650, 2008 | 720 | 2008 |
| VISTA Enhancer Browser—a database of tissue-specific human enhancers A Visel, S Minovitsky, I Dubchak, LA Pennacchio Nucleic acids research 35 (suppl_1), D88-D92, 2006 | 696 | 2006 |
| Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) LA Pennacchio, AE Lehesjoki, NE Stone, VL Willour, K Virtaneva, J Miao, ... Science 271 (5256), 1731-1734, 1996 | 581 | 1996 |
| Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy B Pandit, A Sarkozy, LA Pennacchio, C Carta, K Oishi, S Martinelli, ... Nature genetics 39 (8), 1007, 2007 | 572 | 2007 |
| Most rare missense alleles are deleterious in humans: implications for complex disease and association studies GV Kryukov, LA Pennacchio, SR Sunyaev The American Journal of Human Genetics 80 (4), 727-739, 2007 | 565 | 2007 |
| Genomic views of distant-acting enhancers A Visel, EM Rubin, LA Pennacchio Nature 461 (7261), 199, 2009 | 543 | 2009 |
| Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL S Romeo, LA Pennacchio, Y Fu, E Boerwinkle, A Tybjaerg-Hansen, ... Nature genetics 39 (4), 513, 2007 | 524 | 2007 |
| Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome M Tartaglia, LA Pennacchio, C Zhao, KK Yadav, V Fodale, A Sarkozy, ... Nature genetics 39 (1), 75, 2007 | 518 | 2007 |
| Genomic strategies to identify mammalian regulatory sequences LA Pennacchio, EM Rubin Nature reviews genetics 2 (2), 100, 2001 | 499 | 2001 |
