適用於公開取用強制性政策的文章 - Len A. Pennacchio瞭解詳情
未在任何資料庫公開的文章：2
Congenital Heart Defects in Patients with Deletions Upstream of SOX9
M Sanchez‐Castro, CT Gordon, F Petit, AS Nord, P Callier, J Andrieux, ...
Human Mutation 34 (12), 1628-1631, 2013
授權規定： US National Institutes of Health
Perspectives on ENCODE
F Abascal, R Acosta, NJ Addleman, J Adrian, V Afzal, B Aken, JA Akiyama
Nature 583 (7818), 693-699, 2020
授權規定： US National Institutes of Health
在某個資料庫公開的文章：134
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
授權規定： US National Institutes of Health
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
授權規定： US National Institutes of Health
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
授權規定： US National Institutes of Health
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
授權規定： US National Institutes of Health
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
授權規定： US National Institutes of Health
Genomic views of distant-acting enhancers
A Visel, EM Rubin, LA Pennacchio
Nature 461 (7261), 199-205, 2009
授權規定： US National Institutes of Health
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
授權規定： Genome Canada
Enhancers: five essential questions
LA Pennacchio, W Bickmore, A Dean, MA Nobrega, G Bejerano
Nature Reviews Genetics 14 (4), 288-295, 2013
授權規定： US National Institutes of Health
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
授權規定： US National Institutes of Health
Enhancer redundancy provides phenotypic robustness in mammalian development
M Osterwalder, I Barozzi, V Tissières, Y Fukuda-Yuzawa, BJ Mannion, ...
Nature 554 (7691), 239-243, 2018
授權規定： US Department of Energy, Swiss National Science Foundation, US National …
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
授權規定： US National Institutes of Health, Canadian Institutes of Health Research
The amphioxus genome illuminates vertebrate origins and cephalochordate biology
LZ Holland, R Albalat, K Azumi, È Benito-Gutiérrez, MJ Blow, ...
Genome research 18 (7), 1100-1111, 2008
授權規定： US National Institutes of Health
ChIP-Seq identification of weakly conserved heart enhancers
MJ Blow, DJ McCulley, Z Li, T Zhang, JA Akiyama, A Holt, I Plajzer-Frick, ...
Nature genetics 42 (9), 806-810, 2010
授權規定： US National Institutes of Health
Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice
A Visel, Y Zhu, D May, V Afzal, E Gong, C Attanasio, MJ Blow, JC Cohen, ...
Nature 464 (7287), 409-412, 2010
授權規定： US National Institutes of Health
Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip
F Rahimov, ML Marazita, A Visel, ME Cooper, MJ Hitchler, M Rubini, ...
Nature genetics 40 (11), 1341-1347, 2008
授權規定： US National Institutes of Health
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans
S Romeo, W Yin, J Kozlitina, LA Pennacchio, E Boerwinkle, HH Hobbs, ...
The Journal of clinical investigation 119 (1), 70-79, 2009
授權規定： US National Institutes of Health
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
V Cordeddu, E Di Schiavi, LA Pennacchio, A Ma'ayan, A Sarkozy, ...
Nature genetics 41 (9), 1022-1026, 2009
授權規定： US National Institutes of Health, German Research Foundation
Human-specific gain of function in a developmental enhancer
S Prabhakar, A Visel, JA Akiyama, M Shoukry, KD Lewis, A Holt, ...
Science 321 (5894), 1346-1350, 2008
授權規定： US National Institutes of Health
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