-
1
-
-
84929211885
-
Pioneer factors govern super-enhancer dynamics in stem cell plasticity and lineage choice
-
Adam, R.C., Yang, H., Rockowitz, S., Larsen, S.B., Nikolova, M., Oristian, D.S., Polak, L., Kadaja, M., Asare, A., Zheng, D., Fuchs, E., Pioneer factors govern super-enhancer dynamics in stem cell plasticity and lineage choice. Nature 521 (2015), 366–370.
-
(2015)
Nature
, vol.521
, pp. 366-370
-
-
Adam, R.C.1
Yang, H.2
Rockowitz, S.3
Larsen, S.B.4
Nikolova, M.5
Oristian, D.S.6
Polak, L.7
Kadaja, M.8
Asare, A.9
Zheng, D.10
Fuchs, E.11
-
2
-
-
84925089678
-
The role of regulatory variation in complex traits and disease
-
Albert, F.W., Kruglyak, L., The role of regulatory variation in complex traits and disease. Nat. Rev. Genet. 16 (2015), 197–212.
-
(2015)
Nat. Rev. Genet.
, vol.16
, pp. 197-212
-
-
Albert, F.W.1
Kruglyak, L.2
-
3
-
-
84938888109
-
Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning
-
Alipanahi, B., Delong, A., Weirauch, M.T., Frey, B.J., Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning. Nat. Biotechnol. 33 (2015), 831–838.
-
(2015)
Nat. Biotechnol.
, vol.33
, pp. 831-838
-
-
Alipanahi, B.1
Delong, A.2
Weirauch, M.T.3
Frey, B.J.4
-
4
-
-
80054022145
-
The β-globin promoter -71 C>T mutation is a β+ thalassemic allele
-
Al Zadjali, S., Wali, Y., Al Lawatiya, F., Gravell, D., Alkindi, S., Al Falahi, K., Krishnamoorthy, R., Daar, S., The β-globin promoter -71 C>T mutation is a β+ thalassemic allele. Eur. J. Haematol. 87 (2011), 457–460.
-
(2011)
Eur. J. Haematol.
, vol.87
, pp. 457-460
-
-
Al Zadjali, S.1
Wali, Y.2
Al Lawatiya, F.3
Gravell, D.4
Alkindi, S.5
Al Falahi, K.6
Krishnamoorthy, R.7
Daar, S.8
-
5
-
-
67651173033
-
Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP
-
Ameur, A., Rada-Iglesias, A., Komorowski, J., Wadelius, C., Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP. Nucleic Acids Res., 37, 2009, e85.
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. e85
-
-
Ameur, A.1
Rada-Iglesias, A.2
Komorowski, J.3
Wadelius, C.4
-
6
-
-
17644397256
-
Transcriptional enhancers: Intelligent enhanceosomes or flexible billboards?
-
Arnosti, D.N., Kulkarni, M.M., Transcriptional enhancers: Intelligent enhanceosomes or flexible billboards?. J. Cell. Biochem. 94 (2005), 890–898.
-
(2005)
J. Cell. Biochem.
, vol.94
, pp. 890-898
-
-
Arnosti, D.N.1
Kulkarni, M.M.2
-
7
-
-
84943171338
-
A global reference for human genetic variation
-
Auton, A., Brooks, L.D., Durbin, R.M., Garrison, E.P., Kang, H.M., Korbel, J.O., Marchini, J.L., McCarthy, S., McVean, G.A., Abecasis, G.R., 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 526 (2015), 68–74.
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
Auton, A.1
Brooks, L.D.2
Durbin, R.M.3
Garrison, E.P.4
Kang, H.M.5
Korbel, J.O.6
Marchini, J.L.7
McCarthy, S.8
McVean, G.A.9
Abecasis, G.R.10
-
8
-
-
84907584646
-
Methylation QTLs are associated with coordinated changes in transcription factor binding, histone modifications, and gene expression levels
-
Banovich, N.E., Lan, X., McVicker, G., van de Geijn, B., Degner, J.F., Blischak, J.D., Roux, J., Pritchard, J.K., Gilad, Y., Methylation QTLs are associated with coordinated changes in transcription factor binding, histone modifications, and gene expression levels. PLoS Genet., 10, 2014, e1004663.
-
(2014)
PLoS Genet.
, vol.10
, pp. e1004663
-
-
Banovich, N.E.1
Lan, X.2
McVicker, G.3
van de Geijn, B.4
Degner, J.F.5
Blischak, J.D.6
Roux, J.7
Pritchard, J.K.8
Gilad, Y.9
-
9
-
-
84901921616
-
Coregulation of transcription factor binding and nucleosome occupancy through DNA features of mammalian enhancers
-
Barozzi, I., Simonatto, M., Bonifacio, S., Yang, L., Rohs, R., Ghisletti, S., Natoli, G., Coregulation of transcription factor binding and nucleosome occupancy through DNA features of mammalian enhancers. Mol. Cell 54 (2014), 844–857.
-
(2014)
Mol. Cell
, vol.54
, pp. 844-857
-
-
Barozzi, I.1
Simonatto, M.2
Bonifacio, S.3
Yang, L.4
Rohs, R.5
Ghisletti, S.6
Natoli, G.7
-
10
-
-
84962217539
-
Survey of variation in human transcription factors reveals prevalent DNA binding changes
-
Barrera, L.A., Vedenko, A., Kurland, J.V., Rogers, J.M., Gisselbrecht, S.S., Rossin, E.J., Woodard, J., Mariani, L., Kock, K.H., Inukai, S., et al. Survey of variation in human transcription factors reveals prevalent DNA binding changes. Science 351 (2016), 1450–1454.
-
(2016)
Science
, vol.351
, pp. 1450-1454
-
-
Barrera, L.A.1
Vedenko, A.2
Kurland, J.V.3
Rogers, J.M.4
Gisselbrecht, S.S.5
Rossin, E.J.6
Woodard, J.7
Mariani, L.8
Kock, K.H.9
Inukai, S.10
-
11
-
-
78649640874
-
Using sequence-specific chemical and structural properties of DNA to predict transcription factor binding sites
-
Bauer, A.L., Hlavacek, W.S., Unkefer, P.J., Mu, F., Using sequence-specific chemical and structural properties of DNA to predict transcription factor binding sites. PLoS Comput. Biol., 6, 2010, e1001007.
-
(2010)
PLoS Comput. Biol.
, vol.6
, pp. e1001007
-
-
Bauer, A.L.1
Hlavacek, W.S.2
Unkefer, P.J.3
Mu, F.4
-
12
-
-
61349104285
-
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
-
Benko, S., Fantes, J.A., Amiel, J., Kleinjan, D.-J., Thomas, S., Ramsay, J., Jamshidi, N., Essafi, A., Heaney, S., Gordon, C.T., et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat. Genet. 41 (2009), 359–364.
-
(2009)
Nat. Genet.
, vol.41
, pp. 359-364
-
-
Benko, S.1
Fantes, J.A.2
Amiel, J.3
Kleinjan, D.-J.4
Thomas, S.5
Ramsay, J.6
Jamshidi, N.7
Essafi, A.8
Heaney, S.9
Gordon, C.T.10
-
13
-
-
33750882505
-
Compact, universal DNA microarrays to comprehensively determine transcription-factor binding site specificities
-
Berger, M.F., Philippakis, A.A., Qureshi, A.M., He, F.S., Estep, P.W. 3rd, Bulyk, M.L., Compact, universal DNA microarrays to comprehensively determine transcription-factor binding site specificities. Nat. Biotechnol. 24 (2006), 1429–1435.
-
(2006)
Nat. Biotechnol.
, vol.24
, pp. 1429-1435
-
-
Berger, M.F.1
Philippakis, A.A.2
Qureshi, A.M.3
He, F.S.4
Estep, P.W.5
Bulyk, M.L.6
-
14
-
-
84892715701
-
Clustering of tissue-specific sub-TADs accompanies the regulation of HoxA genes in developing limbs
-
Berlivet, S., Paquette, D., Dumouchel, A., Langlais, D., Dostie, J., Kmita, M., Clustering of tissue-specific sub-TADs accompanies the regulation of HoxA genes in developing limbs. PLoS Genet., 9, 2013, e1004018.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1004018
-
-
Berlivet, S.1
Paquette, D.2
Dumouchel, A.3
Langlais, D.4
Dostie, J.5
Kmita, M.6
-
15
-
-
80054728495
-
Animal transcription networks as highly connected, quantitative continua
-
Biggin, M.D., Animal transcription networks as highly connected, quantitative continua. Dev. Cell 21 (2011), 611–626.
-
(2011)
Dev. Cell
, vol.21
, pp. 611-626
-
-
Biggin, M.D.1
-
16
-
-
0036493201
-
Nucleotides of transcription factor binding sites exert interdependent effects on the binding affinities of transcription factors
-
Bulyk, M.L., Johnson, P.L., Church, G.M., Nucleotides of transcription factor binding sites exert interdependent effects on the binding affinities of transcription factors. Nucleic Acids Res. 30 (2002), 1255–1261.
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 1255-1261
-
-
Bulyk, M.L.1
Johnson, P.L.2
Church, G.M.3
-
17
-
-
47849093350
-
Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies
-
Chorley, B.N., Wang, X., Campbell, M.R., Pittman, G.S., Noureddine, M.A., Bell, D.A., Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies. Mutat. Res. 659 (2008), 147–157.
-
(2008)
Mutat. Res.
, vol.659
, pp. 147-157
-
-
Chorley, B.N.1
Wang, X.2
Campbell, M.R.3
Pittman, G.S.4
Noureddine, M.A.5
Bell, D.A.6
-
18
-
-
84925636391
-
Chromatin-driven behavior of topologically associating domains
-
Ciabrelli, F., Cavalli, G., Chromatin-driven behavior of topologically associating domains. J. Mol. Biol. 427 (2015), 608–625.
-
(2015)
J. Mol. Biol.
, vol.427
, pp. 608-625
-
-
Ciabrelli, F.1
Cavalli, G.2
-
19
-
-
0036184236
-
Opening of compacted chromatin by early developmental transcription factors HNF3 (FoxA) and GATA-4
-
Cirillo, L.A., Lin, F.R., Cuesta, I., Friedman, D., Jarnik, M., Zaret, K.S., Opening of compacted chromatin by early developmental transcription factors HNF3 (FoxA) and GATA-4. Mol. Cell 9 (2002), 279–289.
-
(2002)
Mol. Cell
, vol.9
, pp. 279-289
-
-
Cirillo, L.A.1
Lin, F.R.2
Cuesta, I.3
Friedman, D.4
Jarnik, M.5
Zaret, K.S.6
-
20
-
-
84892689100
-
Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms
-
Claussnitzer, M., Dankel, S.N., Klocke, B., Grallert, H., Glunk, V., Berulava, T., Lee, H., Oskolkov, N., Fadista, J., Ehlers, K., et al., DIAGRAM+Consortium. Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms. Cell 156 (2014), 343–358.
-
(2014)
Cell
, vol.156
, pp. 343-358
-
-
Claussnitzer, M.1
Dankel, S.N.2
Klocke, B.3
Grallert, H.4
Glunk, V.5
Berulava, T.6
Lee, H.7
Oskolkov, N.8
Fadista, J.9
Ehlers, K.10
-
21
-
-
84940830979
-
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans
-
Claussnitzer, M., Dankel, S.N., Kim, K.-H., Quon, G., Meuleman, W., Haugen, C., Glunk, V., Sousa, I.S., Beaudry, J.L., Puviindran, V., et al. FTO Obesity Variant Circuitry and Adipocyte Browning in Humans. N. Engl. J. Med. 373 (2015), 895–907.
-
(2015)
N. Engl. J. Med.
, vol.373
, pp. 895-907
-
-
Claussnitzer, M.1
Dankel, S.N.2
Kim, K.-H.3
Quon, G.4
Meuleman, W.5
Haugen, C.6
Glunk, V.7
Sousa, I.S.8
Beaudry, J.L.9
Puviindran, V.10
-
22
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
Consortium, T.E., ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature 489 (2012), 57–74.
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
Consortium, T.E.1
-
23
-
-
84891697734
-
Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits
-
Corradin, O., Saiakhova, A., Akhtar-Zaidi, B., Myeroff, L., Willis, J., Cowper-Sal lari, R., Lupien, M., Markowitz, S., Scacheri, P.C., Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits. Genome Res. 24 (2014), 1–13.
-
(2014)
Genome Res.
, vol.24
, pp. 1-13
-
-
Corradin, O.1
Saiakhova, A.2
Akhtar-Zaidi, B.3
Myeroff, L.4
Willis, J.5
Cowper-Sal lari, R.6
Lupien, M.7
Markowitz, S.8
Scacheri, P.C.9
-
24
-
-
0025286228
-
Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B
-
Crossley, M., Brownlee, G.G., Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B. Nature 345 (1990), 444–446.
-
(1990)
Nature
, vol.345
, pp. 444-446
-
-
Crossley, M.1
Brownlee, G.G.2
-
25
-
-
0026767136
-
Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter
-
Crossley, M., Ludwig, M., Stowell, K.M., De Vos, P., Olek, K., Brownlee, G.G., Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter. Science 257 (1992), 377–379.
-
(1992)
Science
, vol.257
, pp. 377-379
-
-
Crossley, M.1
Ludwig, M.2
Stowell, K.M.3
De Vos, P.4
Olek, K.5
Brownlee, G.G.6
-
26
-
-
84897394513
-
The functional consequences of variation in transcription factor binding
-
Cusanovich, D.A., Pavlovic, B., Pritchard, J.K., Gilad, Y., The functional consequences of variation in transcription factor binding. PLoS Genet., 10, 2014, e1004226.
-
(2014)
PLoS Genet.
, vol.10
, pp. e1004226
-
-
Cusanovich, D.A.1
Pavlovic, B.2
Pritchard, J.K.3
Gilad, Y.4
-
27
-
-
84884134904
-
The pluripotent genome in three dimensions is shaped around pluripotency factors
-
de Wit, E., Bouwman, B.A.M., Zhu, Y., Klous, P., Splinter, E., Verstegen, M.J.A.M., Krijger, P.H.L., Festuccia, N., Nora, E.P., Welling, M., et al. The pluripotent genome in three dimensions is shaped around pluripotency factors. Nature 501 (2013), 227–231.
-
(2013)
Nature
, vol.501
, pp. 227-231
-
-
de Wit, E.1
Bouwman, B.A.M.2
Zhu, Y.3
Klous, P.4
Splinter, E.5
Verstegen, M.J.A.M.6
Krijger, P.H.L.7
Festuccia, N.8
Nora, E.P.9
Welling, M.10
-
28
-
-
84857111200
-
DNase I sensitivity QTLs are a major determinant of human expression variation
-
Degner, J.F., Pai, A.A., Pique-Regi, R., Veyrieras, J.B., Gaffney, D.J., Pickrell, J.K., De Leon, S., Michelini, K., Lewellen, N., Crawford, G.E., et al. DNase I sensitivity QTLs are a major determinant of human expression variation. Nature 482 (2012), 390–394.
-
(2012)
Nature
, vol.482
, pp. 390-394
-
-
Degner, J.F.1
Pai, A.A.2
Pique-Regi, R.3
Veyrieras, J.B.4
Gaffney, D.J.5
Pickrell, J.K.6
De Leon, S.7
Michelini, K.8
Lewellen, N.9
Crawford, G.E.10
-
29
-
-
33744475085
-
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter
-
De Gobbi, M., Viprakasit, V., Hughes, J.R., Fisher, C., Buckle, V.J., Ayyub, H., Gibbons, R.J., Vernimmen, D., Yoshinaga, Y., de Jong, P., et al. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science 312 (2006), 1215–1217.
-
(2006)
Science
, vol.312
, pp. 1215-1217
-
-
De Gobbi, M.1
Viprakasit, V.2
Hughes, J.R.3
Fisher, C.4
Buckle, V.J.5
Ayyub, H.6
Gibbons, R.J.7
Vernimmen, D.8
Yoshinaga, Y.9
de Jong, P.10
-
30
-
-
84960334782
-
The 3D Genome as Moderator of Chromosomal Communication
-
Dekker, J., Mirny, L., The 3D Genome as Moderator of Chromosomal Communication. Cell 164 (2016), 1110–1121.
-
(2016)
Cell
, vol.164
, pp. 1110-1121
-
-
Dekker, J.1
Mirny, L.2
-
31
-
-
34249777814
-
Variation in FTO contributes to childhood obesity and severe adult obesity
-
Dina, C., Meyre, D., Gallina, S., Durand, E., Körner, A., Jacobson, P., Carlsson, L.M., Kiess, W., Vatin, V., Lecoeur, C., et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat. Genet. 39 (2007), 724–726.
-
(2007)
Nat. Genet.
, vol.39
, pp. 724-726
-
-
Dina, C.1
Meyre, D.2
Gallina, S.3
Durand, E.4
Körner, A.5
Jacobson, P.6
Carlsson, L.M.7
Kiess, W.8
Vatin, V.9
Lecoeur, C.10
-
32
-
-
84912078506
-
Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association
-
Ding, Z., Ni, Y., Timmer, S.W., Lee, B.-K., Battenhouse, A., Louzada, S., Yang, F., Dunham, I., Crawford, G.E., Lieb, J.D., et al. Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association. PLoS Genet., 10, 2014, e1004798.
-
(2014)
PLoS Genet.
, vol.10
, pp. e1004798
-
-
Ding, Z.1
Ni, Y.2
Timmer, S.W.3
Lee, B.-K.4
Battenhouse, A.5
Louzada, S.6
Yang, F.7
Dunham, I.8
Crawford, G.E.9
Lieb, J.D.10
-
33
-
-
84861095603
-
Topological domains in mammalian genomes identified by analysis of chromatin interactions
-
Dixon, J.R., Selvaraj, S., Yue, F., Kim, A., Li, Y., Shen, Y., Hu, M., Liu, J.S., Ren, B., Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature 485 (2012), 376–380.
-
(2012)
Nature
, vol.485
, pp. 376-380
-
-
Dixon, J.R.1
Selvaraj, S.2
Yue, F.3
Kim, A.4
Li, Y.5
Shen, Y.6
Hu, M.7
Liu, J.S.8
Ren, B.9
-
34
-
-
84923366733
-
Chromatin architecture reorganization during stem cell differentiation
-
Dixon, J.R., Jung, I., Selvaraj, S., Shen, Y., Antosiewicz-Bourget, J.E., Lee, A.Y., Ye, Z., Kim, A., Rajagopal, N., Xie, W., et al. Chromatin architecture reorganization during stem cell differentiation. Nature 518 (2015), 331–336.
-
(2015)
Nature
, vol.518
, pp. 331-336
-
-
Dixon, J.R.1
Jung, I.2
Selvaraj, S.3
Shen, Y.4
Antosiewicz-Bourget, J.E.5
Lee, A.Y.6
Ye, Z.7
Kim, A.8
Rajagopal, N.9
Xie, W.10
-
35
-
-
0242574990
-
A biophysical approach to transcription factor binding site discovery
-
Djordjevic, M., Sengupta, A.M., Shraiman, B.I., A biophysical approach to transcription factor binding site discovery. Genome Res. 13 (2003), 2381–2390.
-
(2003)
Genome Res.
, vol.13
, pp. 2381-2390
-
-
Djordjevic, M.1
Sengupta, A.M.2
Shraiman, B.I.3
-
36
-
-
84876688803
-
A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression
-
Dodd, A.W., Syddall, C.M., Loughlin, J., A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression. Eur. J. Hum. Genet. 21 (2013), 517–521.
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, pp. 517-521
-
-
Dodd, A.W.1
Syddall, C.M.2
Loughlin, J.3
-
37
-
-
84951325892
-
Competition between DNA methylation and transcription factors determines binding of NRF1
-
Domcke, S., Bardet, A.F., Adrian Ginno, P., Hartl, D., Burger, L., Schübeler, D., Competition between DNA methylation and transcription factors determines binding of NRF1. Nature 528 (2015), 575–579.
-
(2015)
Nature
, vol.528
, pp. 575-579
-
-
Domcke, S.1
Bardet, A.F.2
Adrian Ginno, P.3
Hartl, D.4
Burger, L.5
Schübeler, D.6
-
38
-
-
84916880365
-
Control of cell identity genes occurs in insulated neighborhoods in mammalian chromosomes
-
Dowen, J.M., Fan, Z.P., Hnisz, D., Ren, G., Abraham, B.J., Zhang, L.N., Weintraub, A.S., Schuijers, J., Lee, T.I., Zhao, K., Young, R.A., Control of cell identity genes occurs in insulated neighborhoods in mammalian chromosomes. Cell 159 (2014), 374–387.
-
(2014)
Cell
, vol.159
, pp. 374-387
-
-
Dowen, J.M.1
Fan, Z.P.2
Hnisz, D.3
Ren, G.4
Abraham, B.J.5
Zhang, L.N.6
Weintraub, A.S.7
Schuijers, J.8
Lee, T.I.9
Zhao, K.10
Young, R.A.11
-
39
-
-
84940998400
-
A widespread role of the motif environment in transcription factor binding across diverse protein families
-
Dror, I., Golan, T., Levy, C., Rohs, R., Mandel-Gutfreund, Y., A widespread role of the motif environment in transcription factor binding across diverse protein families. Genome Res. 25 (2015), 1268–1280.
-
(2015)
Genome Res.
, vol.25
, pp. 1268-1280
-
-
Dror, I.1
Golan, T.2
Levy, C.3
Rohs, R.4
Mandel-Gutfreund, Y.5
-
40
-
-
84890231680
-
Beyond GWASs: illuminating the dark road from association to function
-
Edwards, S.L., Beesley, J., French, J.D., Dunning, A.M., Beyond GWASs: illuminating the dark road from association to function. Am. J. Hum. Genet. 93 (2013), 779–797.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 779-797
-
-
Edwards, S.L.1
Beesley, J.2
French, J.D.3
Dunning, A.M.4
-
41
-
-
41349095280
-
Genetics of gene expression and its effect on disease
-
Emilsson, V., Thorleifsson, G., Zhang, B., Leonardson, A.S., Zink, F., Zhu, J., Carlson, S., Helgason, A., Walters, G.B., Gunnarsdottir, S., et al. Genetics of gene expression and its effect on disease. Nature 452 (2008), 423–428.
-
(2008)
Nature
, vol.452
, pp. 423-428
-
-
Emilsson, V.1
Thorleifsson, G.2
Zhang, B.3
Leonardson, A.S.4
Zink, F.5
Zhu, J.6
Carlson, S.7
Helgason, A.8
Walters, G.B.9
Gunnarsdottir, S.10
-
42
-
-
18744377964
-
Crystal structure of PU.1/IRF-4/DNA ternary complex
-
Escalante, C.R., Brass, A.L., Pongubala, J.M.R., Shatova, E., Shen, L., Singh, H., Aggarwal, A.K., Crystal structure of PU.1/IRF-4/DNA ternary complex. Mol. Cell 10 (2002), 1097–1105.
-
(2002)
Mol. Cell
, vol.10
, pp. 1097-1105
-
-
Escalante, C.R.1
Brass, A.L.2
Pongubala, J.M.R.3
Shatova, E.4
Shen, L.5
Singh, H.6
Aggarwal, A.K.7
-
43
-
-
0026508808
-
Compilation of vertebrate-encoded transcription factors
-
Faisst, S., Meyer, S., Compilation of vertebrate-encoded transcription factors. Nucleic Acids Res. 20 (1992), 3–26.
-
(1992)
Nucleic Acids Res.
, vol.20
, pp. 3-26
-
-
Faisst, S.1
Meyer, S.2
-
44
-
-
68949213578
-
Insights from genomic profiling of transcription factors
-
Farnham, P.J., Insights from genomic profiling of transcription factors. Nat. Rev. Genet. 10 (2009), 605–616.
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 605-616
-
-
Farnham, P.J.1
-
45
-
-
67349211789
-
Inactivation of the Fto gene protects from obesity
-
Fischer, J., Koch, L., Emmerling, C., Vierkotten, J., Peters, T., Brüning, J.C., Rüther, U., Inactivation of the Fto gene protects from obesity. Nature 458 (2009), 894–898.
-
(2009)
Nature
, vol.458
, pp. 894-898
-
-
Fischer, J.1
Koch, L.2
Emmerling, C.3
Vierkotten, J.4
Peters, T.5
Brüning, J.C.6
Rüther, U.7
-
46
-
-
34248594090
-
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
-
Frayling, T.M., Timpson, N.J., Weedon, M.N., Zeggini, E., Freathy, R.M., Lindgren, C.M., Perry, J.R., Elliott, K.S., Lango, H., Rayner, N.W., et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316 (2007), 889–894.
-
(2007)
Science
, vol.316
, pp. 889-894
-
-
Frayling, T.M.1
Timpson, N.J.2
Weedon, M.N.3
Zeggini, E.4
Freathy, R.M.5
Lindgren, C.M.6
Perry, J.R.7
Elliott, K.S.8
Lango, H.9
Rayner, N.W.10
-
47
-
-
84875933011
-
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers
-
French, J.D., Ghoussaini, M., Edwards, S.L., Meyer, K.B., Michailidou, K., Ahmed, S., Khan, S., Maranian, M.J., O'Reilly, M., Hillman, K.M., et al. GENICA Network, kConFab Investigators. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am. J. Hum. Genet. 92 (2013), 489–503.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 489-503
-
-
French, J.D.1
Ghoussaini, M.2
Edwards, S.L.3
Meyer, K.B.4
Michailidou, K.5
Ahmed, S.6
Khan, S.7
Maranian, M.J.8
O'Reilly, M.9
Hillman, K.M.10
-
48
-
-
84876394250
-
A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden
-
Funnell, A.P., Wilson, M.D., Ballester, B., Mak, K.S., Burdach, J., Magan, N., Pearson, R.C., Lemaigre, F.P., Stowell, K.M., Odom, D.T., et al. A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden. Am. J. Hum. Genet. 92 (2013), 460–467.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 460-467
-
-
Funnell, A.P.1
Wilson, M.D.2
Ballester, B.3
Mak, K.S.4
Burdach, J.5
Magan, N.6
Pearson, R.C.7
Lemaigre, F.P.8
Stowell, K.M.9
Odom, D.T.10
-
49
-
-
84969174615
-
A structure-based Multiple-Instance Learning approach to predicting in vitro transcription factor-DNA interaction
-
Gao, Z., Ruan, J., A structure-based Multiple-Instance Learning approach to predicting in vitro transcription factor-DNA interaction. BMC Genomics, 16(Suppl 4), 2015, S3.
-
(2015)
BMC Genomics
, vol.16
, pp. S3
-
-
Gao, Z.1
Ruan, J.2
-
50
-
-
70450251992
-
A Bayesian hidden Markov model for motif discovery through joint modeling of genomic sequence and ChIP-chip data
-
Gelfond, J.A., Gupta, M., Ibrahim, J.G., A Bayesian hidden Markov model for motif discovery through joint modeling of genomic sequence and ChIP-chip data. Biometrics 65 (2009), 1087–1095.
-
(2009)
Biometrics
, vol.65
, pp. 1087-1095
-
-
Gelfond, J.A.1
Gupta, M.2
Ibrahim, J.G.3
-
51
-
-
77955235716
-
Cell-type-specific long-range looping interactions identify distant regulatory elements of the CFTR gene
-
Gheldof, N., Smith, E.M., Tabuchi, T.M., Koch, C.M., Dunham, I., Stamatoyannopoulos, J.A., Dekker, J., Cell-type-specific long-range looping interactions identify distant regulatory elements of the CFTR gene. Nucleic Acids Res. 38 (2010), 4325–4336.
-
(2010)
Nucleic Acids Res.
, vol.38
, pp. 4325-4336
-
-
Gheldof, N.1
Smith, E.M.2
Tabuchi, T.M.3
Koch, C.M.4
Dunham, I.5
Stamatoyannopoulos, J.A.6
Dekker, J.7
-
52
-
-
84900297485
-
Predictive polymer modeling reveals coupled fluctuations in chromosome conformation and transcription
-
Giorgetti, L., Galupa, R., Nora, E.P., Piolot, T., Lam, F., Dekker, J., Tiana, G., Heard, E., Predictive polymer modeling reveals coupled fluctuations in chromosome conformation and transcription. Cell 157 (2014), 950–963.
-
(2014)
Cell
, vol.157
, pp. 950-963
-
-
Giorgetti, L.1
Galupa, R.2
Nora, E.P.3
Piolot, T.4
Lam, F.5
Dekker, J.6
Tiana, G.7
Heard, E.8
-
53
-
-
84920724792
-
Environment drives selection and function of enhancers controlling tissue-specific macrophage identities
-
Gosselin, D., Link, V.M., Romanoski, C.E., Fonseca, G.J., Eichenfield, D.Z., Spann, N.J., Stender, J.D., Chun, H.B., Garner, H., Geissmann, F., Glass, C.K., Environment drives selection and function of enhancers controlling tissue-specific macrophage identities. Cell 159 (2014), 1327–1340.
-
(2014)
Cell
, vol.159
, pp. 1327-1340
-
-
Gosselin, D.1
Link, V.M.2
Romanoski, C.E.3
Fonseca, G.J.4
Eichenfield, D.Z.5
Spann, N.J.6
Stender, J.D.7
Chun, H.B.8
Garner, H.9
Geissmann, F.10
Glass, C.K.11
-
54
-
-
77951874066
-
Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers
-
Gotea, V., Visel, A., Westlund, J.M., Nobrega, M.A., Pennacchio, L.A., Ovcharenko, I., Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers. Genome Res. 20 (2010), 565–577.
-
(2010)
Genome Res.
, vol.20
, pp. 565-577
-
-
Gotea, V.1
Visel, A.2
Westlund, J.M.3
Nobrega, M.A.4
Pennacchio, L.A.5
Ovcharenko, I.6
-
55
-
-
0030798412
-
Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene
-
Gragnoli, C., Lindner, T., Cockburn, B.N., Kaisaki, P.J., Gragnoli, F., Marozzi, G., Bell, G.I., Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene. Diabetes 46 (1997), 1648–1651.
-
(1997)
Diabetes
, vol.46
, pp. 1648-1651
-
-
Gragnoli, C.1
Lindner, T.2
Cockburn, B.N.3
Kaisaki, P.J.4
Gragnoli, F.5
Marozzi, G.6
Bell, G.I.7
-
56
-
-
0029836744
-
Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene
-
Grant, S.F., Reid, D.M., Blake, G., Herd, R., Fogelman, I., Ralston, S.H., Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat. Genet. 14 (1996), 203–205.
-
(1996)
Nat. Genet.
, vol.14
, pp. 203-205
-
-
Grant, S.F.1
Reid, D.M.2
Blake, G.3
Herd, R.4
Fogelman, I.5
Ralston, S.H.6
-
57
-
-
84940391986
-
Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions
-
Grubert, F., Zaugg, J.B., Kasowski, M., Ursu, O., Spacek, D.V., Martin, A.R., Greenside, P., Srivas, R., Phanstiel, D.H., Pekowska, A., et al. Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions. Cell 162 (2015), 1051–1065.
-
(2015)
Cell
, vol.162
, pp. 1051-1065
-
-
Grubert, F.1
Zaugg, J.B.2
Kasowski, M.3
Ursu, O.4
Spacek, D.V.5
Martin, A.R.6
Greenside, P.7
Srivas, R.8
Phanstiel, D.H.9
Pekowska, A.10
-
58
-
-
84879055641
-
Passive and active DNA methylation and the interplay with genetic variation in gene regulation
-
Gutierrez-Arcelus, M., Lappalainen, T., Montgomery, S.B., Buil, A., Ongen, H., Yurovsky, A., Bryois, J., Giger, T., Romano, L., Planchon, A., et al. Passive and active DNA methylation and the interplay with genetic variation in gene regulation. eLife, 2, 2013, e00523.
-
(2013)
eLife
, vol.2
, pp. e00523
-
-
Gutierrez-Arcelus, M.1
Lappalainen, T.2
Montgomery, S.B.3
Buil, A.4
Ongen, H.5
Yurovsky, A.6
Bryois, J.7
Giger, T.8
Romano, L.9
Planchon, A.10
-
59
-
-
84862662420
-
Dynamics and memory of heterochromatin in living cells
-
Hathaway, N.A., Bell, O., Hodges, C., Miller, E.L., Neel, D.S., Crabtree, G.R., Dynamics and memory of heterochromatin in living cells. Cell 149 (2012), 1447–1460.
-
(2012)
Cell
, vol.149
, pp. 1447-1460
-
-
Hathaway, N.A.1
Bell, O.2
Hodges, C.3
Miller, E.L.4
Neel, D.S.5
Crabtree, G.R.6
-
60
-
-
77952567987
-
Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities
-
Heinz, S., Benner, C., Spann, N., Bertolino, E., Lin, Y.C., Laslo, P., Cheng, J.X., Murre, C., Singh, H., Glass, C.K., Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities. Mol. Cell 38 (2010), 576–589.
-
(2010)
Mol. Cell
, vol.38
, pp. 576-589
-
-
Heinz, S.1
Benner, C.2
Spann, N.3
Bertolino, E.4
Lin, Y.C.5
Laslo, P.6
Cheng, J.X.7
Murre, C.8
Singh, H.9
Glass, C.K.10
-
61
-
-
84888641656
-
Effect of natural genetic variation on enhancer selection and function
-
Heinz, S., Romanoski, C.E., Benner, C., Allison, K.A., Kaikkonen, M.U., Orozco, L.D., Glass, C.K., Effect of natural genetic variation on enhancer selection and function. Nature 503 (2013), 487–492.
-
(2013)
Nature
, vol.503
, pp. 487-492
-
-
Heinz, S.1
Romanoski, C.E.2
Benner, C.3
Allison, K.A.4
Kaikkonen, M.U.5
Orozco, L.D.6
Glass, C.K.7
-
62
-
-
0345659216
-
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis
-
Helms, C., Cao, L., Krueger, J.G., Wijsman, E.M., Chamian, F., Gordon, D., Heffernan, M., Daw, J.A., Robarge, J., Ott, J., et al. A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat. Genet. 35 (2003), 349–356.
-
(2003)
Nat. Genet.
, vol.35
, pp. 349-356
-
-
Helms, C.1
Cao, L.2
Krueger, J.G.3
Wijsman, E.M.4
Chamian, F.5
Gordon, D.6
Heffernan, M.7
Daw, J.A.8
Robarge, J.9
Ott, J.10
-
63
-
-
84883703352
-
DNA methylation contributes to natural human variation
-
Heyn, H., Moran, S., Hernando-Herraez, I., Sayols, S., Gomez, A., Sandoval, J., Monk, D., Hata, K., Marques-Bonet, T., Wang, L., Esteller, M., DNA methylation contributes to natural human variation. Genome Res. 23 (2013), 1363–1372.
-
(2013)
Genome Res.
, vol.23
, pp. 1363-1372
-
-
Heyn, H.1
Moran, S.2
Hernando-Herraez, I.3
Sayols, S.4
Gomez, A.5
Sandoval, J.6
Monk, D.7
Hata, K.8
Marques-Bonet, T.9
Wang, L.10
Esteller, M.11
-
64
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff, L.A., Sethupathy, P., Junkins, H.A., Ramos, E.M., Mehta, J.P., Collins, F.S., Manolio, T.A., Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 106 (2009), 9362–9367.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
Ramos, E.M.4
Mehta, J.P.5
Collins, F.S.6
Manolio, T.A.7
-
65
-
-
0032445196
-
Interleukin-10 and transforming growth factor-beta promoter polymorphisms in allergies and asthma
-
Hobbs, K., Negri, J., Klinnert, M., Rosenwasser, L.J., Borish, L., Interleukin-10 and transforming growth factor-beta promoter polymorphisms in allergies and asthma. Am. J. Respir. Crit. Care Med. 158 (1998), 1958–1962.
-
(1998)
Am. J. Respir. Crit. Care Med.
, vol.158
, pp. 1958-1962
-
-
Hobbs, K.1
Negri, J.2
Klinnert, M.3
Rosenwasser, L.J.4
Borish, L.5
-
66
-
-
34247855863
-
The locus of evolution: evo devo and the genetics of adaptation
-
Hoekstra, H.E., Coyne, J.A., The locus of evolution: evo devo and the genetics of adaptation. Evolution 61 (2007), 995–1016.
-
(2007)
Evolution
, vol.61
, pp. 995-1016
-
-
Hoekstra, H.E.1
Coyne, J.A.2
-
67
-
-
51149097760
-
Shadow enhancers as a source of evolutionary novelty
-
Hong, J.-W., Hendrix, D.A., Levine, M.S., Shadow enhancers as a source of evolutionary novelty. Science, 321, 2008, 1314.
-
(2008)
Science
, vol.321
, pp. 1314
-
-
Hong, J.-W.1
Hendrix, D.A.2
Levine, M.S.3
-
68
-
-
84874191269
-
TERT promoter mutations in familial and sporadic melanoma
-
Horn, S., Figl, A., Rachakonda, P.S., Fischer, C., Sucker, A., Gast, A., Kadel, S., Moll, I., Nagore, E., Hemminki, K., et al. TERT promoter mutations in familial and sporadic melanoma. Science 339 (2013), 959–961.
-
(2013)
Science
, vol.339
, pp. 959-961
-
-
Horn, S.1
Figl, A.2
Rachakonda, P.S.3
Fischer, C.4
Sucker, A.5
Gast, A.6
Kadel, S.7
Moll, I.8
Nagore, E.9
Hemminki, K.10
-
69
-
-
70350340058
-
Profiling the human protein-DNA interactome reveals ERK2 as a transcriptional repressor of interferon signaling
-
Hu, S., Xie, Z., Onishi, A., Yu, X., Jiang, L., Lin, J., Rho, H.S., Woodard, C., Wang, H., Jeong, J.-S., et al. Profiling the human protein-DNA interactome reveals ERK2 as a transcriptional repressor of interferon signaling. Cell 139 (2009), 610–622.
-
(2009)
Cell
, vol.139
, pp. 610-622
-
-
Hu, S.1
Xie, Z.2
Onishi, A.3
Yu, X.4
Jiang, L.5
Lin, J.6
Rho, H.S.7
Woodard, C.8
Wang, H.9
Jeong, J.-S.10
-
70
-
-
84884692057
-
DNA methylation presents distinct binding sites for human transcription factors
-
Hu, S., Wan, J., Su, Y., Song, Q., Zeng, Y., Nguyen, H.N., Shin, J., Cox, E., Rho, H.S., Woodard, C., et al. DNA methylation presents distinct binding sites for human transcription factors. eLife, 2, 2013, e00726.
-
(2013)
eLife
, vol.2
, pp. e00726
-
-
Hu, S.1
Wan, J.2
Su, Y.3
Song, Q.4
Zeng, Y.5
Nguyen, H.N.6
Shin, J.7
Cox, E.8
Rho, H.S.9
Woodard, C.10
-
71
-
-
84874189784
-
Highly recurrent TERT promoter mutations in human melanoma
-
Huang, F.W., Hodis, E., Xu, M., Kryukov, G.V., Chin, L., Garraway, L.A., Highly recurrent TERT promoter mutations in human melanoma. Science 339 (2013), 957–959.
-
(2013)
Science
, vol.339
, pp. 957-959
-
-
Huang, F.W.1
Hodis, E.2
Xu, M.3
Kryukov, G.V.4
Chin, L.5
Garraway, L.A.6
-
72
-
-
84904258306
-
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines
-
Huang, W., Massouras, A., Inoue, Y., Peiffer, J., Ràmia, M., Tarone, A.M., Turlapati, L., Zichner, T., Zhu, D., Lyman, R.F., et al. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Res. 24 (2014), 1193–1208.
-
(2014)
Genome Res.
, vol.24
, pp. 1193-1208
-
-
Huang, W.1
Massouras, A.2
Inoue, Y.3
Peiffer, J.4
Ràmia, M.5
Tarone, A.M.6
Turlapati, L.7
Zichner, T.8
Zhu, D.9
Lyman, R.F.10
-
73
-
-
84966333766
-
Quantification of Cooperativity in Heterodimer-DNA Binding Improves the Accuracy of Binding Specificity Models
-
Isakova, A., Berset, Y., Hatzimanikatis, V., Deplancke, B., Quantification of Cooperativity in Heterodimer-DNA Binding Improves the Accuracy of Binding Specificity Models. J. Biol. Chem. 291 (2016), 10293–10306.
-
(2016)
J. Biol. Chem.
, vol.291
, pp. 10293-10306
-
-
Isakova, A.1
Berset, Y.2
Hatzimanikatis, V.3
Deplancke, B.4
-
74
-
-
84918527386
-
Pioneer transcription factors in cell reprogramming
-
Iwafuchi-Doi, M., Zaret, K.S., Pioneer transcription factors in cell reprogramming. Genes Dev. 28 (2014), 2679–2692.
-
(2014)
Genes Dev.
, vol.28
, pp. 2679-2692
-
-
Iwafuchi-Doi, M.1
Zaret, K.S.2
-
75
-
-
54249116230
-
Genetic regulatory mechanisms in the synthesis of proteins
-
Jacob, F., Monod, J., Genetic regulatory mechanisms in the synthesis of proteins. J. Mol. Biol. 3 (1961), 318–356.
-
(1961)
J. Mol. Biol.
, vol.3
, pp. 318-356
-
-
Jacob, F.1
Monod, J.2
-
76
-
-
55049108856
-
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein
-
Jeong, Y., Leskow, F.C., El-Jaick, K., Roessler, E., Muenke, M., Yocum, A., Dubourg, C., Li, X., Geng, X., Oliver, G., Epstein, D.J., Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Nat. Genet. 40 (2008), 1348–1353.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1348-1353
-
-
Jeong, Y.1
Leskow, F.C.2
El-Jaick, K.3
Roessler, E.4
Muenke, M.5
Yocum, A.6
Dubourg, C.7
Li, X.8
Geng, X.9
Oliver, G.10
Epstein, D.J.11
-
77
-
-
70249128376
-
Functional enhancers at the gene-poor 8q24 cancer-linked locus
-
Jia, L., Landan, G., Pomerantz, M., Jaschek, R., Herman, P., Reich, D., Yan, C., Khalid, O., Kantoff, P., Oh, W., et al. Functional enhancers at the gene-poor 8q24 cancer-linked locus. PLoS Genet., 5, 2009, e1000597.
-
(2009)
PLoS Genet.
, vol.5
, pp. e1000597
-
-
Jia, L.1
Landan, G.2
Pomerantz, M.3
Jaschek, R.4
Herman, P.5
Reich, D.6
Yan, C.7
Khalid, O.8
Kantoff, P.9
Oh, W.10
-
78
-
-
77953006022
-
Multiplexed massively parallel SELEX for characterization of human transcription factor binding specificities
-
Jolma, A., Kivioja, T., Toivonen, J., Cheng, L., Wei, G., Enge, M., Taipale, M., Vaquerizas, J.M., Yan, J., Sillanpää, M.J., et al. Multiplexed massively parallel SELEX for characterization of human transcription factor binding specificities. Genome Res. 20 (2010), 861–873.
-
(2010)
Genome Res.
, vol.20
, pp. 861-873
-
-
Jolma, A.1
Kivioja, T.2
Toivonen, J.3
Cheng, L.4
Wei, G.5
Enge, M.6
Taipale, M.7
Vaquerizas, J.M.8
Yan, J.9
Sillanpää, M.J.10
-
79
-
-
84872540994
-
DNA-binding specificities of human transcription factors
-
Jolma, A., Yan, J., Whitington, T., Toivonen, J., Nitta, K.R., Rastas, P., Morgunova, E., Enge, M., Taipale, M., Wei, G., et al. DNA-binding specificities of human transcription factors. Cell 152 (2013), 327–339.
-
(2013)
Cell
, vol.152
, pp. 327-339
-
-
Jolma, A.1
Yan, J.2
Whitington, T.3
Toivonen, J.4
Nitta, K.R.5
Rastas, P.6
Morgunova, E.7
Enge, M.8
Taipale, M.9
Wei, G.10
-
80
-
-
84947717868
-
DNA-dependent formation of transcription factor pairs alters their binding specificity
-
Jolma, A., Yin, Y., Nitta, K.R., Dave, K., Popov, A., Taipale, M., Enge, M., Kivioja, T., Morgunova, E., Taipale, J., DNA-dependent formation of transcription factor pairs alters their binding specificity. Nature 527 (2015), 384–388.
-
(2015)
Nature
, vol.527
, pp. 384-388
-
-
Jolma, A.1
Yin, Y.2
Nitta, K.R.3
Dave, K.4
Popov, A.5
Taipale, M.6
Enge, M.7
Kivioja, T.8
Morgunova, E.9
Taipale, J.10
-
81
-
-
84856704764
-
A transcription factor collective defines cardiac cell fate and reflects lineage history
-
Junion, G., Spivakov, M., Girardot, C., Braun, M., Gustafson, E.H., Birney, E., Furlong, E.E., A transcription factor collective defines cardiac cell fate and reflects lineage history. Cell 148 (2012), 473–486.
-
(2012)
Cell
, vol.148
, pp. 473-486
-
-
Junion, G.1
Spivakov, M.2
Girardot, C.3
Braun, M.4
Gustafson, E.H.5
Birney, E.6
Furlong, E.E.7
-
82
-
-
80052017633
-
Cooperative transcription factor associations discovered using regulatory variation
-
Karczewski, K.J., Tatonetti, N.P., Landt, S.G., Yang, X., Slifer, T., Altman, R.B., Snyder, M., Cooperative transcription factor associations discovered using regulatory variation. Proc. Natl. Acad. Sci. USA 108 (2011), 13353–13358.
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 13353-13358
-
-
Karczewski, K.J.1
Tatonetti, N.P.2
Landt, S.G.3
Yang, X.4
Slifer, T.5
Altman, R.B.6
Snyder, M.7
-
83
-
-
77950833803
-
Variation in transcription factor binding among humans
-
Kasowski, M., Grubert, F., Heffelfinger, C., Hariharan, M., Asabere, A., Waszak, S.M., Habegger, L., Rozowsky, J., Shi, M., Urban, A.E., et al. Variation in transcription factor binding among humans. Science 328 (2010), 232–235.
-
(2010)
Science
, vol.328
, pp. 232-235
-
-
Kasowski, M.1
Grubert, F.2
Heffelfinger, C.3
Hariharan, M.4
Asabere, A.5
Waszak, S.M.6
Habegger, L.7
Rozowsky, J.8
Shi, M.9
Urban, A.E.10
-
84
-
-
84887320760
-
Extensive variation in chromatin states across humans
-
Kasowski, M., Kyriazopoulou-Panagiotopoulou, S., Grubert, F., Zaugg, J.B., Kundaje, A., Liu, Y., Boyle, A.P., Zhang, Q.C., Zakharia, F., Spacek, D.V., et al. Extensive variation in chromatin states across humans. Science 342 (2013), 750–752.
-
(2013)
Science
, vol.342
, pp. 750-752
-
-
Kasowski, M.1
Kyriazopoulou-Panagiotopoulou, S.2
Grubert, F.3
Zaugg, J.B.4
Kundaje, A.5
Liu, Y.6
Boyle, A.P.7
Zhang, Q.C.8
Zakharia, F.9
Spacek, D.V.10
-
85
-
-
80052851950
-
Mouse genomic variation and its effect on phenotypes and gene regulation
-
Keane, T.M., Goodstadt, L., Danecek, P., White, M.A., Wong, K., Yalcin, B., Heger, A., Agam, A., Slater, G., Goodson, M., et al. Mouse genomic variation and its effect on phenotypes and gene regulation. Nature 477 (2011), 289–294.
-
(2011)
Nature
, vol.477
, pp. 289-294
-
-
Keane, T.M.1
Goodstadt, L.2
Danecek, P.3
White, M.A.4
Wong, K.5
Yalcin, B.6
Heger, A.7
Agam, A.8
Slater, G.9
Goodson, M.10
-
86
-
-
84887320563
-
Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription
-
Kilpinen, H., Waszak, S.M., Gschwind, A.R., Raghav, S.K., Witwicki, R.M., Orioli, A., Migliavacca, E., Wiederkehr, M., Gutierrez-Arcelus, M., Panousis, N.I., et al. Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription. Science 342 (2013), 744–747.
-
(2013)
Science
, vol.342
, pp. 744-747
-
-
Kilpinen, H.1
Waszak, S.M.2
Gschwind, A.R.3
Raghav, S.K.4
Witwicki, R.M.5
Orioli, A.6
Migliavacca, E.7
Wiederkehr, M.8
Gutierrez-Arcelus, M.9
Panousis, N.I.10
-
87
-
-
84976873260
-
HOCOMOCO: expansion and enhancement of the collection of transcription factor binding sites models
-
Kulakovskiy, I.V., Vorontsov, I.E., Yevshin, I.S., Soboleva, A.V., Kasianov, A.S., Ashoor, H., Ba-Alawi, W., Bajic, V.B., Medvedeva, Y.A., Kolpakov, F.A., Makeev, V.J., HOCOMOCO: expansion and enhancement of the collection of transcription factor binding sites models. Nucleic Acids Res. 44:D1 (2016), D116–D125.
-
(2016)
Nucleic Acids Res.
, vol.44
, Issue.D1
, pp. D116-D125
-
-
Kulakovskiy, I.V.1
Vorontsov, I.E.2
Yevshin, I.S.3
Soboleva, A.V.4
Kasianov, A.S.5
Ashoor, H.6
Ba-Alawi, W.7
Bajic, V.B.8
Medvedeva, Y.A.9
Kolpakov, F.A.10
Makeev, V.J.11
-
88
-
-
84893763903
-
A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell
-
Kulzer, J.R., Stitzel, M.L., Morken, M.A., Huyghe, J.R., Fuchsberger, C., Kuusisto, J., Laakso, M., Boehnke, M., Collins, F.S., Mohlke, K.L., A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell. Am. J. Hum. Genet. 94 (2014), 186–197.
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 186-197
-
-
Kulzer, J.R.1
Stitzel, M.L.2
Morken, M.A.3
Huyghe, J.R.4
Fuchsberger, C.5
Kuusisto, J.6
Laakso, M.7
Boehnke, M.8
Collins, F.S.9
Mohlke, K.L.10
-
89
-
-
84893947886
-
An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease
-
Lecerf, L., Kavo, A., Ruiz-Ferrer, M., Baral, V., Watanabe, Y., Chaoui, A., Pingault, V., Borrego, S., Bondurand, N., An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease. Hum. Mutat. 35 (2014), 303–307.
-
(2014)
Hum. Mutat.
, vol.35
, pp. 303-307
-
-
Lecerf, L.1
Kavo, A.2
Ruiz-Ferrer, M.3
Baral, V.4
Watanabe, Y.5
Chaoui, A.6
Pingault, V.7
Borrego, S.8
Bondurand, N.9
-
90
-
-
84874189972
-
Genotype to phenotype: lessons from model organisms for human genetics
-
Lehner, B., Genotype to phenotype: lessons from model organisms for human genetics. Nat. Rev. Genet. 14 (2013), 168–178.
-
(2013)
Nat. Rev. Genet.
, vol.14
, pp. 168-178
-
-
Lehner, B.1
-
91
-
-
84902810053
-
In pursuit of design principles of regulatory sequences
-
Levo, M., Segal, E., In pursuit of design principles of regulatory sequences. Nat. Rev. Genet. 15 (2014), 453–468.
-
(2014)
Nat. Rev. Genet.
, vol.15
, pp. 453-468
-
-
Levo, M.1
Segal, E.2
-
92
-
-
84871539869
-
Foxa2 and H2A.Z mediate nucleosome depletion during embryonic stem cell differentiation
-
Li, Z., Gadue, P., Chen, K., Jiao, Y., Tuteja, G., Schug, J., Li, W., Kaestner, K.H., Foxa2 and H2A.Z mediate nucleosome depletion during embryonic stem cell differentiation. Cell 151 (2012), 1608–1616.
-
(2012)
Cell
, vol.151
, pp. 1608-1616
-
-
Li, Z.1
Gadue, P.2
Chen, K.3
Jiao, Y.4
Tuteja, G.5
Schug, J.6
Li, W.7
Kaestner, K.H.8
-
93
-
-
70349873824
-
Comprehensive mapping of long-range interactions reveals folding principles of the human genome
-
Lieberman-Aiden, E., van Berkum, N.L., Williams, L., Imakaev, M., Ragoczy, T., Telling, A., Amit, I., Lajoie, B.R., Sabo, P.J., Dorschner, M.O., et al. Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science 326 (2009), 289–293.
-
(2009)
Science
, vol.326
, pp. 289-293
-
-
Lieberman-Aiden, E.1
van Berkum, N.L.2
Williams, L.3
Imakaev, M.4
Ragoczy, T.5
Telling, A.6
Amit, I.7
Lajoie, B.R.8
Sabo, P.J.9
Dorschner, M.O.10
-
94
-
-
84942945203
-
Genomic approaches for understanding the genetics of complex disease
-
Lowe, W.L. Jr., Reddy, T.E., Genomic approaches for understanding the genetics of complex disease. Genome Res. 25 (2015), 1432–1441.
-
(2015)
Genome Res.
, vol.25
, pp. 1432-1441
-
-
Lowe, W.L.1
Reddy, T.E.2
-
95
-
-
0029832180
-
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome
-
Ludlow, L.B., Schick, B.P., Budarf, M.L., Driscoll, D.A., Zackai, E.H., Cohen, A., Konkle, B.A., Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J. Biol. Chem. 271 (1996), 22076–22080.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 22076-22080
-
-
Ludlow, L.B.1
Schick, B.P.2
Budarf, M.L.3
Driscoll, D.A.4
Zackai, E.H.5
Cohen, A.6
Konkle, B.A.7
-
96
-
-
51549097146
-
Resurrecting the role of transcription factor change in developmental evolution
-
Lynch, V.J., Wagner, G.P., Resurrecting the role of transcription factor change in developmental evolution. Evolution 62 (2008), 2131–2154.
-
(2008)
Evolution
, vol.62
, pp. 2131-2154
-
-
Lynch, V.J.1
Wagner, G.P.2
-
97
-
-
67651108806
-
The genetics of quantitative traits: challenges and prospects
-
Mackay, T.F., Stone, E.A., Ayroles, J.F., The genetics of quantitative traits: challenges and prospects. Nat. Rev. Genet. 10 (2009), 565–577.
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 565-577
-
-
Mackay, T.F.1
Stone, E.A.2
Ayroles, J.F.3
-
98
-
-
73249134379
-
Experimental determination of the evolvability of a transcription factor
-
Maerkl, S.J., Quake, S.R., Experimental determination of the evolvability of a transcription factor. Proc. Natl. Acad. Sci. USA 106 (2009), 18650–18655.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 18650-18655
-
-
Maerkl, S.J.1
Quake, S.R.2
-
99
-
-
84871226594
-
Improved predictions of transcription factor binding sites using physicochemical features of DNA
-
Maienschein-Cline, M., Dinner, A.R., Hlavacek, W.S., Mu, F., Improved predictions of transcription factor binding sites using physicochemical features of DNA. Nucleic Acids Res., 40, 2012, e175.
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. e175
-
-
Maienschein-Cline, M.1
Dinner, A.R.2
Hlavacek, W.S.3
Mu, F.4
-
100
-
-
84942199337
-
How to Be a Pioneer: A One-Sided View
-
Mancini, E.J., West, M.J., How to Be a Pioneer: A One-Sided View. Trends Biochem. Sci. 40 (2015), 547–548.
-
(2015)
Trends Biochem. Sci.
, vol.40
, pp. 547-548
-
-
Mancini, E.J.1
West, M.J.2
-
101
-
-
0033765506
-
A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency
-
Manco, L., Ribeiro, M.L., Máximo, V., Almeida, H., Costa, A., Freitas, O., Barbot, J., Abade, A., Tamagnini, G., A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency. Br. J. Haematol. 110 (2000), 993–997.
-
(2000)
Br. J. Haematol.
, vol.110
, pp. 993-997
-
-
Manco, L.1
Ribeiro, M.L.2
Máximo, V.3
Almeida, H.4
Costa, A.5
Freitas, O.6
Barbot, J.7
Abade, A.8
Tamagnini, G.9
-
102
-
-
84880920122
-
Bringing genome-wide association findings into clinical use
-
Manolio, T.A., Bringing genome-wide association findings into clinical use. Nat. Rev. Genet. 14 (2013), 549–558.
-
(2013)
Nat. Rev. Genet.
, vol.14
, pp. 549-558
-
-
Manolio, T.A.1
-
103
-
-
84917710235
-
Oncogene regulation. An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element
-
Mansour, M.R., Abraham, B.J., Anders, L., Berezovskaya, A., Gutierrez, A., Durbin, A.D., Etchin, J., Lawton, L., Sallan, S.E., Silverman, L.B., et al. Oncogene regulation. An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element. Science 346 (2014), 1373–1377.
-
(2014)
Science
, vol.346
, pp. 1373-1377
-
-
Mansour, M.R.1
Abraham, B.J.2
Anders, L.3
Berezovskaya, A.4
Gutierrez, A.5
Durbin, A.D.6
Etchin, J.7
Lawton, L.8
Sallan, S.E.9
Silverman, L.B.10
-
104
-
-
0024560650
-
Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor
-
Martin, D.I., Tsai, S.F., Orkin, S.H., Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor. Nature 338 (1989), 435–438.
-
(1989)
Nature
, vol.338
, pp. 435-438
-
-
Martin, D.I.1
Tsai, S.F.2
Orkin, S.H.3
-
105
-
-
25144480919
-
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction
-
Masotti, C., Armelin-Correa, L.M., Splendore, A., Lin, C.J., Barbosa, A., Sogayar, M.C., Passos-Bueno, M.R., A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. Gene 359 (2005), 44–52.
-
(2005)
Gene
, vol.359
, pp. 44-52
-
-
Masotti, C.1
Armelin-Correa, L.M.2
Splendore, A.3
Lin, C.J.4
Barbosa, A.5
Sogayar, M.C.6
Passos-Bueno, M.R.7
-
106
-
-
84870693546
-
Genomic variation and its impact on gene expression in Drosophila melanogaster
-
Massouras, A., Waszak, S.M., Albarca-Aguilera, M., Hens, K., Holcombe, W., Ayroles, J.F., Dermitzakis, E.T., Stone, E.A., Jensen, J.D., Mackay, T.F., Deplancke, B., Genomic variation and its impact on gene expression in Drosophila melanogaster. PLoS Genet., 8, 2012, e1003055.
-
(2012)
PLoS Genet.
, vol.8
, pp. e1003055
-
-
Massouras, A.1
Waszak, S.M.2
Albarca-Aguilera, M.3
Hens, K.4
Holcombe, W.5
Ayroles, J.F.6
Dermitzakis, E.T.7
Stone, E.A.8
Jensen, J.D.9
Mackay, T.F.10
Deplancke, B.11
-
107
-
-
0026699172
-
Delta-thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the delta-globin gene promoter
-
Matsuda, M., Sakamoto, N., Fukumaki, Y., Delta-thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the delta-globin gene promoter. Blood 80 (1992), 1347–1351.
-
(1992)
Blood
, vol.80
, pp. 1347-1351
-
-
Matsuda, M.1
Sakamoto, N.2
Fukumaki, Y.3
-
108
-
-
84865822182
-
Systematic localization of common disease-associated variation in regulatory DNA
-
Maurano, M.T., Humbert, R., Rynes, E., Thurman, R.E., Haugen, E., Wang, H., Reynolds, A.P., Sandstrom, R., Qu, H., Brody, J., et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 337 (2012), 1190–1195.
-
(2012)
Science
, vol.337
, pp. 1190-1195
-
-
Maurano, M.T.1
Humbert, R.2
Rynes, E.3
Thurman, R.E.4
Haugen, E.5
Wang, H.6
Reynolds, A.P.7
Sandstrom, R.8
Qu, H.9
Brody, J.10
-
109
-
-
84949091882
-
Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo
-
Maurano, M.T., Haugen, E., Sandstrom, R., Vierstra, J., Shafer, A., Kaul, R., Stamatoyannopoulos, J.A., Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo. Nat. Genet. 47 (2015), 1393–1401.
-
(2015)
Nat. Genet.
, vol.47
, pp. 1393-1401
-
-
Maurano, M.T.1
Haugen, E.2
Sandstrom, R.3
Vierstra, J.4
Shafer, A.5
Kaul, R.6
Stamatoyannopoulos, J.A.7
-
110
-
-
84952976271
-
High density methylation QTL analysis in human blood via next-generation sequencing of the methylated genomic DNA fraction
-
McClay, J.L., Shabalin, A.A., Dozmorov, M.G., Adkins, D.E., Kumar, G., Nerella, S., Clark, S.L., Bergen, S.E., Hultman, C.M., Magnusson, P.K., et al., Swedish Schizophrenia Consortium. High density methylation QTL analysis in human blood via next-generation sequencing of the methylated genomic DNA fraction. Genome Biol., 16, 2015, 291.
-
(2015)
Genome Biol.
, vol.16
, pp. 291
-
-
McClay, J.L.1
Shabalin, A.A.2
Dozmorov, M.G.3
Adkins, D.E.4
Kumar, G.5
Nerella, S.6
Clark, S.L.7
Bergen, S.E.8
Hultman, C.M.9
Magnusson, P.K.10
-
111
-
-
84887322043
-
Identification of genetic variants that affect histone modifications in human cells
-
McVicker, G., van de Geijn, B., Degner, J.F., Cain, C.E., Banovich, N.E., Raj, A., Lewellen, N., Myrthil, M., Gilad, Y., Pritchard, J.K., Identification of genetic variants that affect histone modifications in human cells. Science 342 (2013), 747–749.
-
(2013)
Science
, vol.342
, pp. 747-749
-
-
McVicker, G.1
van de Geijn, B.2
Degner, J.F.3
Cain, C.E.4
Banovich, N.E.5
Raj, A.6
Lewellen, N.7
Myrthil, M.8
Gilad, Y.9
Pritchard, J.K.10
-
112
-
-
23444446753
-
A bacterial one-hybrid system for determining the DNA-binding specificity of transcription factors
-
Meng, X., Brodsky, M.H., Wolfe, S.A., A bacterial one-hybrid system for determining the DNA-binding specificity of transcription factors. Nat. Biotechnol. 23 (2005), 988–994.
-
(2005)
Nat. Biotechnol.
, vol.23
, pp. 988-994
-
-
Meng, X.1
Brodsky, M.H.2
Wolfe, S.A.3
-
113
-
-
0027211845
-
A novel, erythroid cell-specific murine transcription factor that binds to the CACCC element and is related to the Krüppel family of nuclear proteins
-
Miller, I.J., Bieker, J.J., A novel, erythroid cell-specific murine transcription factor that binds to the CACCC element and is related to the Krüppel family of nuclear proteins. Mol. Cell. Biol. 13 (1993), 2776–2786.
-
(1993)
Mol. Cell. Biol.
, vol.13
, pp. 2776-2786
-
-
Miller, I.J.1
Bieker, J.J.2
-
114
-
-
78651107675
-
Nucleosome-mediated cooperativity between transcription factors
-
Mirny, L.A., Nucleosome-mediated cooperativity between transcription factors. Proc. Natl. Acad. Sci. USA 107 (2010), 22534–22539.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 22534-22539
-
-
Mirny, L.A.1
-
115
-
-
77955499945
-
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
-
Musunuru, K., Strong, A., Frank-Kamenetsky, M., Lee, N.E., Ahfeldt, T., Sachs, K.V., Li, X., Li, H., Kuperwasser, N., Ruda, V.M., et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 466 (2010), 714–719.
-
(2010)
Nature
, vol.466
, pp. 714-719
-
-
Musunuru, K.1
Strong, A.2
Frank-Kamenetsky, M.3
Lee, N.E.4
Ahfeldt, T.5
Sachs, K.V.6
Li, X.7
Li, H.8
Kuperwasser, N.9
Ruda, V.M.10
-
116
-
-
84929152789
-
C2H2 zinc finger proteins greatly expand the human regulatory lexicon
-
Najafabadi, H.S., Mnaimneh, S., Schmitges, F.W., Garton, M., Lam, K.N., Yang, A., Albu, M., Weirauch, M.T., Radovani, E., Kim, P.M., et al. C2H2 zinc finger proteins greatly expand the human regulatory lexicon. Nat. Biotechnol. 33 (2015), 555–562.
-
(2015)
Nat. Biotechnol.
, vol.33
, pp. 555-562
-
-
Najafabadi, H.S.1
Mnaimneh, S.2
Schmitges, F.W.3
Garton, M.4
Lam, K.N.5
Yang, A.6
Albu, M.7
Weirauch, M.T.8
Radovani, E.9
Kim, P.M.10
-
117
-
-
77952367694
-
Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations
-
Nica, A.C., Montgomery, S.B., Dimas, A.S., Stranger, B.E., Beazley, C., Barroso, I., Dermitzakis, E.T., Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. PLoS Genet., 6, 2010, e1000895.
-
(2010)
PLoS Genet.
, vol.6
, pp. e1000895
-
-
Nica, A.C.1
Montgomery, S.B.2
Dimas, A.S.3
Stranger, B.E.4
Beazley, C.5
Barroso, I.6
Dermitzakis, E.T.7
-
118
-
-
77951439152
-
Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS
-
Nicolae, D.L., Gamazon, E., Zhang, W., Duan, S., Dolan, M.E., Cox, N.J., Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet., 6, 2010, e1000888.
-
(2010)
PLoS Genet.
, vol.6
, pp. e1000888
-
-
Nicolae, D.L.1
Gamazon, E.2
Zhang, W.3
Duan, S.4
Dolan, M.E.5
Cox, N.J.6
-
119
-
-
84861100147
-
Spatial partitioning of the regulatory landscape of the X-inactivation centre
-
Nora, E.P., Lajoie, B.R., Schulz, E.G., Giorgetti, L., Okamoto, I., Servant, N., Piolot, T., van Berkum, N.L., Meisig, J., Sedat, J., et al. Spatial partitioning of the regulatory landscape of the X-inactivation centre. Nature 485 (2012), 381–385.
-
(2012)
Nature
, vol.485
, pp. 381-385
-
-
Nora, E.P.1
Lajoie, B.R.2
Schulz, E.G.3
Giorgetti, L.4
Okamoto, I.5
Servant, N.6
Piolot, T.7
van Berkum, N.L.8
Meisig, J.9
Sedat, J.10
-
120
-
-
79960277492
-
Direct measurement of DNA affinity landscapes on a high-throughput sequencing instrument
-
Nutiu, R., Friedman, R.C., Luo, S., Khrebtukova, I., Silva, D., Li, R., Zhang, L., Schroth, G.P., Burge, C.B., Direct measurement of DNA affinity landscapes on a high-throughput sequencing instrument. Nat. Biotechnol. 29 (2011), 659–664.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 659-664
-
-
Nutiu, R.1
Friedman, R.C.2
Luo, S.3
Khrebtukova, I.4
Silva, D.5
Li, R.6
Zhang, L.7
Schroth, G.P.8
Burge, C.B.9
-
121
-
-
0019949838
-
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster
-
Orkin, S.H., Kazazian, H.H. Jr., Antonarakis, S.E., Goff, S.C., Boehm, C.D., Sexton, J.P., Waber, P.G., Giardina, P.J., Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 296 (1982), 627–631.
-
(1982)
Nature
, vol.296
, pp. 627-631
-
-
Orkin, S.H.1
Kazazian, H.H.2
Antonarakis, S.E.3
Goff, S.C.4
Boehm, C.D.5
Sexton, J.P.6
Waber, P.G.7
Giardina, P.J.8
-
122
-
-
84924365586
-
The genetic and mechanistic basis for variation in gene regulation
-
Pai, A.A., Pritchard, J.K., Gilad, Y., The genetic and mechanistic basis for variation in gene regulation. PLoS Genet., 11, 2015, e1004857.
-
(2015)
PLoS Genet.
, vol.11
, pp. e1004857
-
-
Pai, A.A.1
Pritchard, J.K.2
Gilad, Y.3
-
123
-
-
0032886705
-
Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft) mouse mutation
-
Peters, T., Ausmeier, K., Rüther, U., Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft) mouse mutation. Mamm. Genome 10 (1999), 983–986.
-
(1999)
Mamm. Genome
, vol.10
, pp. 983-986
-
-
Peters, T.1
Ausmeier, K.2
Rüther, U.3
-
124
-
-
84878860751
-
Architectural protein subclasses shape 3D organization of genomes during lineage commitment
-
Phillips-Cremins, J.E., Sauria, M.E., Sanyal, A., Gerasimova, T.I., Lajoie, B.R., Bell, J.S., Ong, C.T., Hookway, T.A., Guo, C., Sun, Y., et al. Architectural protein subclasses shape 3D organization of genomes during lineage commitment. Cell 153 (2013), 1281–1295.
-
(2013)
Cell
, vol.153
, pp. 1281-1295
-
-
Phillips-Cremins, J.E.1
Sauria, M.E.2
Sanyal, A.3
Gerasimova, T.I.4
Lajoie, B.R.5
Bell, J.S.6
Ong, C.T.7
Hookway, T.A.8
Guo, C.9
Sun, Y.10
-
125
-
-
0029875865
-
A model for the cooperative binding of eukaryotic regulatory proteins to nucleosomal target sites
-
Polach, K.J., Widom, J., A model for the cooperative binding of eukaryotic regulatory proteins to nucleosomal target sites. J. Mol. Biol. 258 (1996), 800–812.
-
(1996)
J. Mol. Biol.
, vol.258
, pp. 800-812
-
-
Polach, K.J.1
Widom, J.2
-
126
-
-
0020317962
-
beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box
-
Poncz, M., Ballantine, M., Solowiejczyk, D., Barak, I., Schwartz, E., Surrey, S., beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box. J. Biol. Chem. 257 (1982), 5994–5996.
-
(1982)
J. Biol. Chem.
, vol.257
, pp. 5994-5996
-
-
Poncz, M.1
Ballantine, M.2
Solowiejczyk, D.3
Barak, I.4
Schwartz, E.5
Surrey, S.6
-
127
-
-
0034747029
-
rSNP_Guide, a database system for analysis of transcription factor binding to target sequences: application to SNPs and site-directed mutations
-
Ponomarenko, J.V., Merkulova, T.I., Vasiliev, G.V., Levashova, Z.B., Orlova, G.V., Lavryushev, S.V., Fokin, O.N., Ponomarenko, M.P., Frolov, A.S., Sarai, A., rSNP_Guide, a database system for analysis of transcription factor binding to target sequences: application to SNPs and site-directed mutations. Nucleic Acids Res. 29 (2001), 312–316.
-
(2001)
Nucleic Acids Res.
, vol.29
, pp. 312-316
-
-
Ponomarenko, J.V.1
Merkulova, T.I.2
Vasiliev, G.V.3
Levashova, Z.B.4
Orlova, G.V.5
Lavryushev, S.V.6
Fokin, O.N.7
Ponomarenko, M.P.8
Frolov, A.S.9
Sarai, A.10
-
128
-
-
0018856116
-
How the λ repressor and cro work
-
Ptashne, M., Jeffrey, A., Johnson, A.D., Maurer, R., Meyer, B.J., Pabo, C.O., Roberts, T.M., Sauer, R.T., How the λ repressor and cro work. Cell 19 (1980), 1–11.
-
(1980)
Cell
, vol.19
, pp. 1-11
-
-
Ptashne, M.1
Jeffrey, A.2
Johnson, A.D.3
Maurer, R.4
Meyer, B.J.5
Pabo, C.O.6
Roberts, T.M.7
Sauer, R.T.8
-
129
-
-
84860783115
-
Integrative genomics identifies the corepressor SMRT as a gatekeeper of adipogenesis through the transcription factors C/EBPβ and KAISO
-
Raghav, S.K., Waszak, S.M., Krier, I., Gubelmann, C., Isakova, A., Mikkelsen, T.S., Deplancke, B., Integrative genomics identifies the corepressor SMRT as a gatekeeper of adipogenesis through the transcription factors C/EBPβ and KAISO. Mol. Cell 46 (2012), 335–350.
-
(2012)
Mol. Cell
, vol.46
, pp. 335-350
-
-
Raghav, S.K.1
Waszak, S.M.2
Krier, I.3
Gubelmann, C.4
Isakova, A.5
Mikkelsen, T.S.6
Deplancke, B.7
-
130
-
-
55049105999
-
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip
-
Rahimov, F., Marazita, M.L., Visel, A., Cooper, M.E., Hitchler, M.J., Rubini, M., Domann, F.E., Govil, M., Christensen, K., Bille, C., et al. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat. Genet. 40 (2008), 1341–1347.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1341-1347
-
-
Rahimov, F.1
Marazita, M.L.2
Visel, A.3
Cooper, M.E.4
Hitchler, M.J.5
Rubini, M.6
Domann, F.E.7
Govil, M.8
Christensen, K.9
Bille, C.10
-
131
-
-
84919949716
-
A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping
-
Rao, S.S., Huntley, M.H., Durand, N.C., Stamenova, E.K., Bochkov, I.D., Robinson, J.T., Sanborn, A.L., Machol, I., Omer, A.D., Lander, E.S., Aiden, E.L., A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping. Cell 159 (2014), 1665–1680.
-
(2014)
Cell
, vol.159
, pp. 1665-1680
-
-
Rao, S.S.1
Huntley, M.H.2
Durand, N.C.3
Stamenova, E.K.4
Bochkov, I.D.5
Robinson, J.T.6
Sanborn, A.L.7
Machol, I.8
Omer, A.D.9
Lander, E.S.10
Aiden, E.L.11
-
132
-
-
77649299348
-
An atlas of combinatorial transcriptional regulation in mouse and man
-
Ravasi, T., Suzuki, H., Cannistraci, C.V., Katayama, S., Bajic, V.B., Tan, K., Akalin, A., Schmeier, S., Kanamori-Katayama, M., Bertin, N., et al. An atlas of combinatorial transcriptional regulation in mouse and man. Cell 140 (2010), 744–752.
-
(2010)
Cell
, vol.140
, pp. 744-752
-
-
Ravasi, T.1
Suzuki, H.2
Cannistraci, C.V.3
Katayama, S.4
Bajic, V.B.5
Tan, K.6
Akalin, A.7
Schmeier, S.8
Kanamori-Katayama, M.9
Bertin, N.10
-
133
-
-
84859916280
-
Effects of sequence variation on differential allelic transcription factor occupancy and gene expression
-
Reddy, T.E., Gertz, J., Pauli, F., Kucera, K.S., Varley, K.E., Newberry, K.M., Marinov, G.K., Mortazavi, A., Williams, B.A., Song, L., et al. Effects of sequence variation on differential allelic transcription factor occupancy and gene expression. Genome Res. 22 (2012), 860–869.
-
(2012)
Genome Res.
, vol.22
, pp. 860-869
-
-
Reddy, T.E.1
Gertz, J.2
Pauli, F.3
Kucera, K.S.4
Varley, K.E.5
Newberry, K.M.6
Marinov, G.K.7
Mortazavi, A.8
Williams, B.A.9
Song, L.10
-
134
-
-
0026747855
-
Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden
-
Reijnen, M.J., Sladek, F.M., Bertina, R.M., Reitsma, P.H., Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden. Proc. Natl. Acad. Sci. USA 89 (1992), 6300–6303.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 6300-6303
-
-
Reijnen, M.J.1
Sladek, F.M.2
Bertina, R.M.3
Reitsma, P.H.4
-
135
-
-
70350686719
-
The role of DNA shape in protein-DNA recognition
-
Rohs, R., West, S.M., Sosinsky, A., Liu, P., Mann, R.S., Honig, B., The role of DNA shape in protein-DNA recognition. Nature 461 (2009), 1248–1253.
-
(2009)
Nature
, vol.461
, pp. 1248-1253
-
-
Rohs, R.1
West, S.M.2
Sosinsky, A.3
Liu, P.4
Mann, R.S.5
Honig, B.6
-
136
-
-
33744807717
-
DNA looping: the consequences and its control
-
Saiz, L., Vilar, J.M.G., DNA looping: the consequences and its control. Curr. Opin. Struct. Biol. 16 (2006), 344–350.
-
(2006)
Curr. Opin. Struct. Biol.
, vol.16
, pp. 344-350
-
-
Saiz, L.1
Vilar, J.M.G.2
-
137
-
-
84893863046
-
Discovery of directional and nondirectional pioneer transcription factors by modeling DNase profile magnitude and shape
-
Sherwood, R.I., Hashimoto, T., O'Donnell, C.W., Lewis, S., Barkal, A.A., van Hoff, J.P., Karun, V., Jaakkola, T., Gifford, D.K., Discovery of directional and nondirectional pioneer transcription factors by modeling DNase profile magnitude and shape. Nat. Biotechnol. 32 (2014), 171–178.
-
(2014)
Nat. Biotechnol.
, vol.32
, pp. 171-178
-
-
Sherwood, R.I.1
Hashimoto, T.2
O'Donnell, C.W.3
Lewis, S.4
Barkal, A.A.5
van Hoff, J.P.6
Karun, V.7
Jaakkola, T.8
Gifford, D.K.9
-
138
-
-
84902302671
-
Transcription factor cooperativity in early adipogenic hotspots and super-enhancers
-
Siersbæk, R., Rabiee, A., Nielsen, R., Sidoli, S., Traynor, S., Loft, A., La Cour Poulsen, L., Rogowska-Wrzesinska, A., Jensen, O.N., Mandrup, S., Transcription factor cooperativity in early adipogenic hotspots and super-enhancers. Cell Rep. 7 (2014), 1443–1455.
-
(2014)
Cell Rep.
, vol.7
, pp. 1443-1455
-
-
Siersbæk, R.1
Rabiee, A.2
Nielsen, R.3
Sidoli, S.4
Traynor, S.5
Loft, A.6
La Cour Poulsen, L.7
Rogowska-Wrzesinska, A.8
Jensen, O.N.9
Mandrup, S.10
-
139
-
-
84880807583
-
Absolute quantification of transcription factors during cellular differentiation using multiplexed targeted proteomics
-
Simicevic, J., Schmid, A.W., Gilardoni, P.A., Zoller, B., Raghav, S.K., Krier, I., Gubelmann, C., Lisacek, F., Naef, F., Moniatte, M., Deplancke, B., Absolute quantification of transcription factors during cellular differentiation using multiplexed targeted proteomics. Nat. Methods 10 (2013), 570–576.
-
(2013)
Nat. Methods
, vol.10
, pp. 570-576
-
-
Simicevic, J.1
Schmid, A.W.2
Gilardoni, P.A.3
Zoller, B.4
Raghav, S.K.5
Krier, I.6
Gubelmann, C.7
Lisacek, F.8
Naef, F.9
Moniatte, M.10
Deplancke, B.11
-
140
-
-
84906935775
-
Absence of a simple code: how transcription factors read the genome
-
Slattery, M., Zhou, T., Yang, L., Dantas Machado, A.C., Gordân, R., Rohs, R., Absence of a simple code: how transcription factors read the genome. Trends Biochem. Sci. 39 (2014), 381–399.
-
(2014)
Trends Biochem. Sci.
, vol.39
, pp. 381-399
-
-
Slattery, M.1
Zhou, T.2
Yang, L.3
Dantas Machado, A.C.4
Gordân, R.5
Rohs, R.6
-
141
-
-
84897855294
-
Obesity-associated variants within FTO form long-range functional connections with IRX3
-
Smemo, S., Tena, J.J., Kim, K.H., Gamazon, E.R., Sakabe, N.J., Gómez-Marín, C., Aneas, I., Credidio, F.L., Sobreira, D.R., Wasserman, N.F., et al. Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature 507 (2014), 371–375.
-
(2014)
Nature
, vol.507
, pp. 371-375
-
-
Smemo, S.1
Tena, J.J.2
Kim, K.H.3
Gamazon, E.R.4
Sakabe, N.J.5
Gómez-Marín, C.6
Aneas, I.7
Credidio, F.L.8
Sobreira, D.R.9
Wasserman, N.F.10
-
142
-
-
84872398729
-
Transcription-associated histone modifications and cryptic transcription
-
Smolle, M., Workman, J.L., Transcription-associated histone modifications and cryptic transcription. Biochim. Biophys. Acta 1829 (2013), 84–97.
-
(2013)
Biochim. Biophys. Acta
, vol.1829
, pp. 84-97
-
-
Smolle, M.1
Workman, J.L.2
-
143
-
-
84934325147
-
Genetic Variation Determines PPARγ Function and Anti-diabetic Drug Response In Vivo
-
Soccio, R.E., Chen, E.R., Rajapurkar, S.R., Safabakhsh, P., Marinis, J.M., Dispirito, J.R., Emmett, M.J., Briggs, E.R., Fang, B., Everett, L.J., et al. Genetic Variation Determines PPARγ Function and Anti-diabetic Drug Response In Vivo. Cell 162 (2015), 33–44.
-
(2015)
Cell
, vol.162
, pp. 33-44
-
-
Soccio, R.E.1
Chen, E.R.2
Rajapurkar, S.R.3
Safabakhsh, P.4
Marinis, J.M.5
Dispirito, J.R.6
Emmett, M.J.7
Briggs, E.R.8
Fang, B.9
Everett, L.J.10
-
144
-
-
0035103547
-
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria
-
Solis, C., Aizencang, G.I., Astrin, K.H., Bishop, D.F., Desnick, R.J., Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J. Clin. Invest. 107 (2001), 753–762.
-
(2001)
J. Clin. Invest.
, vol.107
, pp. 753-762
-
-
Solis, C.1
Aizencang, G.I.2
Astrin, K.H.3
Bishop, D.F.4
Desnick, R.J.5
-
145
-
-
84937532893
-
Pioneer transcription factors target partial DNA motifs on nucleosomes to initiate reprogramming
-
Soufi, A., Garcia, M.F., Jaroszewicz, A., Osman, N., Pellegrini, M., Zaret, K.S., Pioneer transcription factors target partial DNA motifs on nucleosomes to initiate reprogramming. Cell 161 (2015), 555–568.
-
(2015)
Cell
, vol.161
, pp. 555-568
-
-
Soufi, A.1
Garcia, M.F.2
Jaroszewicz, A.3
Osman, N.4
Pellegrini, M.5
Zaret, K.S.6
-
146
-
-
84865249952
-
Transcription factors: from enhancer binding to developmental control
-
Spitz, F., Furlong, E.E.M., Transcription factors: from enhancer binding to developmental control. Nat. Rev. Genet. 13 (2012), 613–626.
-
(2012)
Nat. Rev. Genet.
, vol.13
, pp. 613-626
-
-
Spitz, F.1
Furlong, E.E.M.2
-
147
-
-
84865724466
-
Analysis of variation at transcription factor binding sites in Drosophila and humans
-
Spivakov, M., Akhtar, J., Kheradpour, P., Beal, K., Girardot, C., Koscielny, G., Herrero, J., Kellis, M., Furlong, E.E., Birney, E., Analysis of variation at transcription factor binding sites in Drosophila and humans. Genome Biol., 13, 2012, R49.
-
(2012)
Genome Biol.
, vol.13
, pp. R49
-
-
Spivakov, M.1
Akhtar, J.2
Kheradpour, P.3
Beal, K.4
Girardot, C.5
Koscielny, G.6
Herrero, J.7
Kellis, M.8
Furlong, E.E.9
Birney, E.10
-
148
-
-
84881141882
-
Cooperativity and rapid evolution of cobound transcription factors in closely related mammals
-
Stefflova, K., Thybert, D., Wilson, M.D., Streeter, I., Aleksic, J., Karagianni, P., Brazma, A., Adams, D.J., Talianidis, I., Marioni, J.C., et al. Cooperativity and rapid evolution of cobound transcription factors in closely related mammals. Cell 154 (2013), 530–540.
-
(2013)
Cell
, vol.154
, pp. 530-540
-
-
Stefflova, K.1
Thybert, D.2
Wilson, M.D.3
Streeter, I.4
Aleksic, J.5
Karagianni, P.6
Brazma, A.7
Adams, D.J.8
Talianidis, I.9
Marioni, J.C.10
-
149
-
-
77958096076
-
Determining the specificity of protein-DNA interactions
-
Stormo, G.D., Zhao, Y., Determining the specificity of protein-DNA interactions. Nat. Rev. Genet. 11 (2010), 751–760.
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 751-760
-
-
Stormo, G.D.1
Zhao, Y.2
-
150
-
-
84951567954
-
CTCF-Mediated Human 3D Genome Architecture Reveals Chromatin Topology for Transcription
-
Tang, Z., Luo, O.J., Li, X., Zheng, M., Zhu, J.J., Szalaj, P., Trzaskoma, P., Magalska, A., Wlodarczyk, J., Ruszczycki, B., et al. CTCF-Mediated Human 3D Genome Architecture Reveals Chromatin Topology for Transcription. Cell 163 (2015), 1611–1627.
-
(2015)
Cell
, vol.163
, pp. 1611-1627
-
-
Tang, Z.1
Luo, O.J.2
Li, X.3
Zheng, M.4
Zhu, J.J.5
Szalaj, P.6
Trzaskoma, P.7
Magalska, A.8
Wlodarczyk, J.9
Ruszczycki, B.10
-
151
-
-
79955883317
-
Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators
-
Tijssen, M.R., Cvejic, A., Joshi, A., Hannah, R.L., Ferreira, R., Forrai, A., Bellissimo, D.C., Oram, S.H., Smethurst, P.A., Wilson, N.K., et al. Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators. Dev. Cell 20 (2011), 597–609.
-
(2011)
Dev. Cell
, vol.20
, pp. 597-609
-
-
Tijssen, M.R.1
Cvejic, A.2
Joshi, A.3
Hannah, R.L.4
Ferreira, R.5
Forrai, A.6
Bellissimo, D.C.7
Oram, S.H.8
Smethurst, P.A.9
Wilson, N.K.10
-
152
-
-
84922282349
-
Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait
-
Torres, J.M., Gamazon, E.R., Parra, E.J., Below, J.E., Valladares-Salgado, A., Wacher, N., Cruz, M., Hanis, C.L., Cox, N.J., Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait. Am. J. Hum. Genet. 95 (2014), 521–534.
-
(2014)
Am. J. Hum. Genet.
, vol.95
, pp. 521-534
-
-
Torres, J.M.1
Gamazon, E.R.2
Parra, E.J.3
Below, J.E.4
Valladares-Salgado, A.5
Wacher, N.6
Cruz, M.7
Hanis, C.L.8
Cox, N.J.9
-
153
-
-
0029001881
-
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals
-
Tournamille, C., Colin, Y., Cartron, J.P., Le Van Kim, C., Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat. Genet. 10 (1995), 224–228.
-
(1995)
Nat. Genet.
, vol.10
, pp. 224-228
-
-
Tournamille, C.1
Colin, Y.2
Cartron, J.P.3
Le Van Kim, C.4
-
154
-
-
68149170044
-
The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling
-
Tuupanen, S., Turunen, M., Lehtonen, R., Hallikas, O., Vanharanta, S., Kivioja, T., Björklund, M., Wei, G., Yan, J., Niittymäki, I., et al. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat. Genet. 41 (2009), 885–890.
-
(2009)
Nat. Genet.
, vol.41
, pp. 885-890
-
-
Tuupanen, S.1
Turunen, M.2
Lehtonen, R.3
Hallikas, O.4
Vanharanta, S.5
Kivioja, T.6
Björklund, M.7
Wei, G.8
Yan, J.9
Niittymäki, I.10
-
155
-
-
62549128139
-
A census of human transcription factors: function, expression and evolution
-
Vaquerizas, J.M., Kummerfeld, S.K., Teichmann, S.A., Luscombe, N.M., A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 (2009), 252–263.
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 252-263
-
-
Vaquerizas, J.M.1
Kummerfeld, S.K.2
Teichmann, S.A.3
Luscombe, N.M.4
-
156
-
-
69449101386
-
Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease
-
Verlaan, D.J., Berlivet, S., Hunninghake, G.M., Madore, A.-M., Larivière, M., Moussette, S., Grundberg, E., Kwan, T., Ouimet, M., Ge, B., et al. Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. Am. J. Hum. Genet. 85 (2009), 377–393.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 377-393
-
-
Verlaan, D.J.1
Berlivet, S.2
Hunninghake, G.M.3
Madore, A.-M.4
Larivière, M.5
Moussette, S.6
Grundberg, E.7
Kwan, T.8
Ouimet, M.9
Ge, B.10
-
157
-
-
55449112450
-
High-resolution mapping of expression-QTLs yields insight into human gene regulation
-
Veyrieras, J.-B., Kudaravalli, S., Kim, S.Y., Dermitzakis, E.T., Gilad, Y., Stephens, M., Pritchard, J.K., High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet., 4, 2008, e1000214.
-
(2008)
PLoS Genet.
, vol.4
, pp. e1000214
-
-
Veyrieras, J.-B.1
Kudaravalli, S.2
Kim, S.Y.3
Dermitzakis, E.T.4
Gilad, Y.5
Stephens, M.6
Pritchard, J.K.7
-
158
-
-
84924533047
-
Comparative Hi-C reveals that CTCF underlies evolution of chromosomal domain architecture
-
Vietri Rudan, M., Barrington, C., Henderson, S., Ernst, C., Odom, D.T., Tanay, A., Hadjur, S., Comparative Hi-C reveals that CTCF underlies evolution of chromosomal domain architecture. Cell Rep. 10 (2015), 1297–1309.
-
(2015)
Cell Rep.
, vol.10
, pp. 1297-1309
-
-
Vietri Rudan, M.1
Barrington, C.2
Henderson, S.3
Ernst, C.4
Odom, D.T.5
Tanay, A.6
Hadjur, S.7
-
159
-
-
84983740566
-
BayesPI-BAR: a new biophysical model for characterization of regulatory sequence variations
-
Wang, J., Batmanov, K., BayesPI-BAR: a new biophysical model for characterization of regulatory sequence variations. Nucleic Acids Res., 43, 2015, e147.
-
(2015)
Nucleic Acids Res.
, vol.43
, pp. e147
-
-
Wang, J.1
Batmanov, K.2
-
160
-
-
84954505134
-
FAS rs2234767 and rs1800682 polymorphisms jointly contributed to risk of colorectal cancer by affecting SP1/STAT1 complex recruitment to chromatin
-
Wang, S., Wu, S., Meng, Q., Li, X., Zhang, J., Chen, R., Wang, M., FAS rs2234767 and rs1800682 polymorphisms jointly contributed to risk of colorectal cancer by affecting SP1/STAT1 complex recruitment to chromatin. Sci. Rep., 6, 2016, 19229.
-
(2016)
Sci. Rep.
, vol.6
, pp. 19229
-
-
Wang, S.1
Wu, S.2
Meng, Q.3
Li, X.4
Zhang, J.5
Chen, R.6
Wang, M.7
-
161
-
-
1842584947
-
Applied bioinformatics for the identification of regulatory elements
-
Wasserman, W.W., Sandelin, A., Applied bioinformatics for the identification of regulatory elements. Nat. Rev. Genet. 5 (2004), 276–287.
-
(2004)
Nat. Rev. Genet.
, vol.5
, pp. 276-287
-
-
Wasserman, W.W.1
Sandelin, A.2
-
162
-
-
84940419146
-
Population Variation and Genetic Control of Modular Chromatin Architecture in Humans
-
Waszak, S.M., Delaneau, O., Gschwind, A.R., Kilpinen, H., Raghav, S.K., Witwicki, R.M., Orioli, A., Wiederkehr, M., Panousis, N.I., Yurovsky, A., et al. Population Variation and Genetic Control of Modular Chromatin Architecture in Humans. Cell 162 (2015), 1039–1050.
-
(2015)
Cell
, vol.162
, pp. 1039-1050
-
-
Waszak, S.M.1
Delaneau, O.2
Gschwind, A.R.3
Kilpinen, H.4
Raghav, S.K.5
Witwicki, R.M.6
Orioli, A.7
Wiederkehr, M.8
Panousis, N.I.9
Yurovsky, A.10
-
163
-
-
84891347416
-
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
-
Weedon, M.N., Cebola, I., Patch, A.M., Flanagan, S.E., De Franco, E., Caswell, R., Rodríguez-Seguí, S.A., Shaw-Smith, C., Cho, C.H., Lango Allen, H., et al., International Pancreatic Agenesis Consortium. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat. Genet. 46 (2014), 61–64.
-
(2014)
Nat. Genet.
, vol.46
, pp. 61-64
-
-
Weedon, M.N.1
Cebola, I.2
Patch, A.M.3
Flanagan, S.E.4
De Franco, E.5
Caswell, R.6
Rodríguez-Seguí, S.A.7
Shaw-Smith, C.8
Cho, C.H.9
Lango Allen, H.10
-
164
-
-
84908894973
-
Genome-wide analysis of noncoding regulatory mutations in cancer
-
Weinhold, N., Jacobsen, A., Schultz, N., Sander, C., Lee, W., Genome-wide analysis of noncoding regulatory mutations in cancer. Nat. Genet. 46 (2014), 1160–1165.
-
(2014)
Nat. Genet.
, vol.46
, pp. 1160-1165
-
-
Weinhold, N.1
Jacobsen, A.2
Schultz, N.3
Sander, C.4
Lee, W.5
-
165
-
-
84856660311
-
A Catalogue of Eukaryotic Transcription Factor Types, Their Evolutionary Origin, and Species Distribution
-
T.R. Hughes Springer Netherlands
-
Weirauch, M., Hughes, T.R., A Catalogue of Eukaryotic Transcription Factor Types, Their Evolutionary Origin, and Species Distribution. Hughes, T.R., (eds.) A Handbook of Transcription Factors, 2011, Springer Netherlands, 25–73.
-
(2011)
A Handbook of Transcription Factors
, pp. 25-73
-
-
Weirauch, M.1
Hughes, T.R.2
-
166
-
-
84907413210
-
Determination and inference of eukaryotic transcription factor sequence specificity
-
Weirauch, M.T., Yang, A., Albu, M., Cote, A.G., Montenegro-Montero, A., Drewe, P., Najafabadi, H.S., Lambert, S.A., Mann, I., Cook, K., et al. Determination and inference of eukaryotic transcription factor sequence specificity. Cell 158 (2014), 1431–1443.
-
(2014)
Cell
, vol.158
, pp. 1431-1443
-
-
Weirauch, M.T.1
Yang, A.2
Albu, M.3
Cote, A.G.4
Montenegro-Montero, A.5
Drewe, P.6
Najafabadi, H.S.7
Lambert, S.A.8
Mann, I.9
Cook, K.10
-
167
-
-
84880362638
-
Massively parallel in vivo enhancer assay reveals that highly local features determine the cis-regulatory function of ChIP-seq peaks
-
White, M.A., Myers, C.A., Corbo, J.C., Cohen, B.A., Massively parallel in vivo enhancer assay reveals that highly local features determine the cis-regulatory function of ChIP-seq peaks. Proc. Natl. Acad. Sci. USA 110 (2013), 11952–11957.
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. 11952-11957
-
-
White, M.A.1
Myers, C.A.2
Corbo, J.C.3
Cohen, B.A.4
-
168
-
-
84929630294
-
Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin
-
Wienert, B., Funnell, A.P.W., Norton, L.J., Pearson, R.C.M., Wilkinson-White, L.E., Lester, K., Vadolas, J., Porteus, M.H., Matthews, J.M., Quinlan, K.G.R., Crossley, M., Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin. Nat. Commun., 6, 2015, 7085.
-
(2015)
Nat. Commun.
, vol.6
, pp. 7085
-
-
Wienert, B.1
Funnell, A.P.W.2
Norton, L.J.3
Pearson, R.C.M.4
Wilkinson-White, L.E.5
Lester, K.6
Vadolas, J.7
Porteus, M.H.8
Matthews, J.M.9
Quinlan, K.G.R.10
Crossley, M.11
-
169
-
-
33847057226
-
The evolutionary significance of cis-regulatory mutations
-
Wray, G.A., The evolutionary significance of cis-regulatory mutations. Nat. Rev. Genet. 8 (2007), 206–216.
-
(2007)
Nat. Rev. Genet.
, vol.8
, pp. 206-216
-
-
Wray, G.A.1
-
170
-
-
0037218355
-
A novel polymorphic CAAT/enhancer-binding protein β element in the FasL gene promoter alters Fas ligand expression: a candidate background gene in African American systemic lupus erythematosus patients
-
Wu, J., Metz, C., Xu, X., Abe, R., Gibson, A.W., Edberg, J.C., Cooke, J., Xie, F., Cooper, G.S., Kimberly, R.P., A novel polymorphic CAAT/enhancer-binding protein β element in the FasL gene promoter alters Fas ligand expression: a candidate background gene in African American systemic lupus erythematosus patients. J. Immunol. 170 (2003), 132–138.
-
(2003)
J. Immunol.
, vol.170
, pp. 132-138
-
-
Wu, J.1
Metz, C.2
Xu, X.3
Abe, R.4
Gibson, A.W.5
Edberg, J.C.6
Cooke, J.7
Xie, F.8
Cooper, G.S.9
Kimberly, R.P.10
-
171
-
-
53049108799
-
Ets2 maintains hTERT gene expression and breast cancer cell proliferation by interacting with c-Myc
-
Xu, D., Dwyer, J., Li, H., Duan, W., Liu, J.-P., Ets2 maintains hTERT gene expression and breast cancer cell proliferation by interacting with c-Myc. J. Biol. Chem. 283 (2008), 23567–23580.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 23567-23580
-
-
Xu, D.1
Dwyer, J.2
Li, H.3
Duan, W.4
Liu, J.-P.5
-
172
-
-
80052851948
-
Sequence-based characterization of structural variation in the mouse genome
-
Yalcin, B., Wong, K., Agam, A., Goodson, M., Keane, T.M., Gan, X., Nellåker, C., Goodstadt, L., Nicod, J., Bhomra, A., et al. Sequence-based characterization of structural variation in the mouse genome. Nature 477 (2011), 326–329.
-
(2011)
Nature
, vol.477
, pp. 326-329
-
-
Yalcin, B.1
Wong, K.2
Agam, A.3
Goodson, M.4
Keane, T.M.5
Gan, X.6
Nellåker, C.7
Goodstadt, L.8
Nicod, J.9
Bhomra, A.10
-
173
-
-
0029045344
-
A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity
-
Yang, W.S., Nevin, D.N., Peng, R., Brunzell, J.D., Deeb, S.S., A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc. Natl. Acad. Sci. USA 92 (1995), 4462–4466.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 4462-4466
-
-
Yang, W.S.1
Nevin, D.N.2
Peng, R.3
Brunzell, J.D.4
Deeb, S.S.5
-
174
-
-
84885651314
-
A polymorphic p53 response element in KIT ligand influences cancer risk and has undergone natural selection
-
Zeron-Medina, J., Wang, X., Repapi, E., Campbell, M.R., Su, D., Castro-Giner, F., Davies, B., Peterse, E.F., Sacilotto, N., Walker, G.J., et al. A polymorphic p53 response element in KIT ligand influences cancer risk and has undergone natural selection. Cell 155 (2013), 410–422.
-
(2013)
Cell
, vol.155
, pp. 410-422
-
-
Zeron-Medina, J.1
Wang, X.2
Repapi, E.3
Campbell, M.R.4
Su, D.5
Castro-Giner, F.6
Davies, B.7
Peterse, E.F.8
Sacilotto, N.9
Walker, G.J.10
-
175
-
-
23244456864
-
Identification of functional genetic variants in cyclooxygenase-2 and their association with risk of esophageal cancer
-
Zhang, X., Miao, X., Tan, W., Ning, B., Liu, Z., Hong, Y., Song, W., Guo, Y., Zhang, X., Shen, Y., et al. Identification of functional genetic variants in cyclooxygenase-2 and their association with risk of esophageal cancer. Gastroenterology 129 (2005), 565–576.
-
(2005)
Gastroenterology
, vol.129
, pp. 565-576
-
-
Zhang, X.1
Miao, X.2
Tan, W.3
Ning, B.4
Liu, Z.5
Hong, Y.6
Song, W.7
Guo, Y.8
Zhang, X.9
Shen, Y.10
-
176
-
-
23844463779
-
Finding short DNA motifs using permuted Markov models
-
Zhao, X., Huang, H., Speed, T.P., Finding short DNA motifs using permuted Markov models. J. Comput. Biol. 12 (2005), 894–906.
-
(2005)
J. Comput. Biol.
, vol.12
, pp. 894-906
-
-
Zhao, X.1
Huang, H.2
Speed, T.P.3
-
177
-
-
80053617355
-
Mutation in the factor VII hepatocyte nuclear factor 4α-binding site contributes to factor VII deficiency
-
Zheng, X.-W.W., Kudaravalli, R., Russell, T.T., DiMichele, D.M., Gibb, C., Russell, J.E., Margaritis, P., Pollak, E.S., Mutation in the factor VII hepatocyte nuclear factor 4α-binding site contributes to factor VII deficiency. Blood Coagul. Fibrinolysis 22 (2011), 624–627.
-
(2011)
Blood Coagul. Fibrinolysis
, vol.22
, pp. 624-627
-
-
Zheng, X.-W.W.1
Kudaravalli, R.2
Russell, T.T.3
DiMichele, D.M.4
Gibb, C.5
Russell, J.E.6
Margaritis, P.7
Pollak, E.S.8
-
178
-
-
84958257565
-
Predicting effects of noncoding variants with deep learning-based sequence model
-
Zhou, J., Troyanskaya, O.G., Predicting effects of noncoding variants with deep learning-based sequence model. Nat. Methods 12 (2015), 931–934.
-
(2015)
Nat. Methods
, vol.12
, pp. 931-934
-
-
Zhou, J.1
Troyanskaya, O.G.2
-
179
-
-
84928033171
-
Quantitative modeling of transcription factor binding specificities using DNA shape
-
Zhou, T., Shen, N., Yang, L., Abe, N., Horton, J., Mann, R.S., Bussemaker, H.J., Gordân, R., Rohs, R., Quantitative modeling of transcription factor binding specificities using DNA shape. Proc. Natl. Acad. Sci. USA 112 (2015), 4654–4659.
-
(2015)
Proc. Natl. Acad. Sci. USA
, vol.112
, pp. 4654-4659
-
-
Zhou, T.1
Shen, N.2
Yang, L.3
Abe, N.4
Horton, J.5
Mann, R.S.6
Bussemaker, H.J.7
Gordân, R.8
Rohs, R.9
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