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Len A. Pennacchio
Len A. Pennacchio
在 lbl.gov 的电子邮件经过验证 - 首页
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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
16796*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
35522008
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
21082007
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
19442009
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
16962008
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
14812011
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
14132014
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
13442006
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
12852001
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
12052007
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
9052008
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
7842007
Genomic views of distant-acting enhancers
A Visel, EM Rubin, LA Pennacchio
Nature 461 (7261), 199-205, 2009
7552009
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
7152007
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
6962013
Enhancers: five essential questions
LA Pennacchio, W Bickmore, A Dean, MA Nobrega, G Bejerano
Nature Reviews Genetics 14 (4), 288-295, 2013
6882013
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
6741996
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
6532007
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
6112007
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
6082012
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