| An integrated encyclopedia of DNA elements in the human genome. BE Bernstein, E Birney, I Dunham, ED Green, C Gunter, M Snyder Nature 489 (7414), 57, 2012 | 13374* | 2012 |
| 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), 1461-1465, 2008 | 3302 | 2008 |
| A common allele on chromosome 9 associated with coronary heart disease R McPherson, A Pertsemlidis, N Kavaslar, A Stewart, R Roberts, DR Cox, ... Obstetrical & Gynecological Survey 62 (9), 584-585, 2007 | 2041 | 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), 854-858, 2009 | 1907 | 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), 1064-1071, 2008 | 1666 | 2008 |
| 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 | 1402 | 2011 |
| Guidelines for investigating causality of sequence variants in human disease DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ... Nature 508 (7497), 469-476, 2014 | 1332 | 2014 |
| In vivo enhancer analysis of human conserved non-coding sequences LA Pennacchio, N Ahituv, AM Moses, S Prabhakar, MA Nobrega, ... Nature 444 (7118), 499-502, 2006 | 1312 | 2006 |
| 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 | 1246 | 2001 |
| 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, 2007 | 1141 | 2007 |
| 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 | 874 | 2008 |
| 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), 1007-1012, 2007 | 739 | 2007 |
| Genomic views of distant-acting enhancers A Visel, EM Rubin, LA Pennacchio Nature 461 (7261), 199-205, 2009 | 734 | 2009 |
| 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 | 702 | 2007 |
| Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants SCJ Parker, ML Stitzel, DL Taylor, JM Orozco, MR Erdos, JA Akiyama, ... Proceedings of the National Academy of Sciences 110 (44), 17921-17926, 2013 | 664 | 2013 |
| 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 | 658 | 1996 |
| Enhancers: five essential questions LA Pennacchio, W Bickmore, A Dean, MA Nobrega, G Bejerano Nature Reviews Genetics 14 (4), 288-295, 2013 | 646 | 2013 |
| 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), 75-79, 2007 | 635 | 2007 |
| 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), 513-516, 2007 | 600 | 2007 |
| Massively parallel functional dissection of mammalian enhancers in vivo RP Patwardhan, JB Hiatt, DM Witten, MJ Kim, RP Smith, D May, C Lee, ... Nature biotechnology 30 (3), 265-270, 2012 | 578 | 2012 |
