-
1
-
-
0014937223
-
Central dogma of molecular biology
-
Crick, F., Central dogma of molecular biology. Nature 227 (1970), 561–563.
-
(1970)
Nature
, vol.227
, pp. 561-563
-
-
Crick, F.1
-
2
-
-
0029875956
-
The geneticist's approach to complex disease
-
Ghosh, S., Collins, F.S., The geneticist's approach to complex disease. Annu. Rev. Med. 47 (1996), 333–353.
-
(1996)
Annu. Rev. Med.
, vol.47
, pp. 333-353
-
-
Ghosh, S.1
Collins, F.S.2
-
3
-
-
0021028244
-
A polymorphic DNA marker genetically linked to Huntington's disease
-
Gusella, J.F., Wexler, N.S., Conneally, P.M., Naylor, S.L., Anderson, M.A., Tanzi, R.E., Watkins, P.C., Ottina, K., Wallace, M.R., Sakaguchi, A.Y., et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306 (1983), 234–238.
-
(1983)
Nature
, vol.306
, pp. 234-238
-
-
Gusella, J.F.1
Wexler, N.S.2
Conneally, P.M.3
Naylor, S.L.4
Anderson, M.A.5
Tanzi, R.E.6
Watkins, P.C.7
Ottina, K.8
Wallace, M.R.9
Sakaguchi, A.Y.10
-
4
-
-
17844411239
-
Genetic approaches to studying common diseases and complex traits
-
Hirschhorn, J.N., Genetic approaches to studying common diseases and complex traits. Pediatr. Res. 57 (2005), 74R–77R.
-
(2005)
Pediatr. Res.
, vol.57
, pp. 74R-77R
-
-
Hirschhorn, J.N.1
-
6
-
-
84908890496
-
Defining the role of common variation in the genomic and biological architecture of adult human height
-
Wood, A.R., Esko, T., Yang, J., Vedantam, S., Pers, T.H., Gustafsson, S., Chu, A.Y., Estrada, K., Luan, J., Kutalik, Z., et al. Electronic Medical Records and Genomics (eMEMERGEGE) Consortium MIGen Consortium PAGEGE Consortium, LifeLines Cohort Study. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat. Genet. 46 (2014), 1173–1186.
-
(2014)
Nat. Genet.
, vol.46
, pp. 1173-1186
-
-
Wood, A.R.1
Esko, T.2
Yang, J.3
Vedantam, S.4
Pers, T.H.5
Gustafsson, S.6
Chu, A.Y.7
Estrada, K.8
Luan, J.9
Kutalik, Z.10
-
7
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
Klein, R.J., Zeiss, C., Chew, E.Y., Tsai, J.Y., Sackler, R.S., Haynes, C., Henning, A.K., SanGiovanni, J.P., Mane, S.M., Mayne, S.T., et al. Complement factor H polymorphism in age-related macular degeneration. Science 308 (2005), 385–389.
-
(2005)
Science
, vol.308
, pp. 385-389
-
-
Klein, R.J.1
Zeiss, C.2
Chew, E.Y.3
Tsai, J.Y.4
Sackler, R.S.5
Haynes, C.6
Henning, A.K.7
SanGiovanni, J.P.8
Mane, S.M.9
Mayne, S.T.10
-
8
-
-
17244379811
-
Complement factor H polymorphism and age-related macular degeneration
-
Edwards, A.O., Ritter, R. 3rd, Abel, K.J., Manning, A., Panhuysen, C., Farrer, L.A., Complement factor H polymorphism and age-related macular degeneration. Science 308 (2005), 421–424.
-
(2005)
Science
, vol.308
, pp. 421-424
-
-
Edwards, A.O.1
Ritter, R.2
Abel, K.J.3
Manning, A.4
Panhuysen, C.5
Farrer, L.A.6
-
9
-
-
20244388812
-
Complement factor H variant increases the risk of age-related macular degeneration
-
Haines, J.L., Hauser, M.A., Schmidt, S., Scott, W.K., Olson, L.M., Gallins, P., Spencer, K.L., Kwan, S.Y., Noureddine, M., Gilbert, J.R., et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 308 (2005), 419–421.
-
(2005)
Science
, vol.308
, pp. 419-421
-
-
Haines, J.L.1
Hauser, M.A.2
Schmidt, S.3
Scott, W.K.4
Olson, L.M.5
Gallins, P.6
Spencer, K.L.7
Kwan, S.Y.8
Noureddine, M.9
Gilbert, J.R.10
-
10
-
-
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
-
11
-
-
84891790401
-
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
-
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., Klemm, A., Flicek, P., Manolio, T., Hindorff, L., Parkinson, H., The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res. 42 (2014), D1001–D1006.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D1001-D1006
-
-
Welter, D.1
MacArthur, J.2
Morales, J.3
Burdett, T.4
Hall, P.5
Junkins, H.6
Klemm, A.7
Flicek, P.8
Manolio, T.9
Hindorff, L.10
Parkinson, H.11
-
12
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel, S.B., Schaffner, S.F., Nguyen, H., Moore, J.M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. The structure of haplotype blocks in the human genome. Science 296 (2002), 2225–2229.
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
DeFelice, M.8
Lochner, A.9
Faggart, M.10
-
13
-
-
84865777825
-
Linking disease associations with regulatory information in the human genome
-
Schaub, M.A., Boyle, A.P., Kundaje, A., Batzoglou, S., Snyder, M., Linking disease associations with regulatory information in the human genome. Genome Res. 22 (2012), 1748–1759.
-
(2012)
Genome Res.
, vol.22
, pp. 1748-1759
-
-
Schaub, M.A.1
Boyle, A.P.2
Kundaje, A.3
Batzoglou, S.4
Snyder, M.5
-
14
-
-
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
-
15
-
-
84870222914
-
Disentangling the many layers of eukaryotic transcriptional regulation
-
Lelli, K.M., Slattery, M., Mann, R.S., Disentangling the many layers of eukaryotic transcriptional regulation. Annu. Rev. Genet. 46 (2012), 43–68.
-
(2012)
Annu. Rev. Genet.
, vol.46
, pp. 43-68
-
-
Lelli, K.M.1
Slattery, M.2
Mann, R.S.3
-
16
-
-
84923326765
-
Genetic and epigenetic fine mapping of causal autoimmune disease variants
-
Farh, K.K., Marson, A., Zhu, J., Kleinewietfeld, M., Housley, W.J., Beik, S., Shoresh, N., Whitton, H., Ryan, R.J., Shishkin, A.A., et al. Genetic and epigenetic fine mapping of causal autoimmune disease variants. Nature 518 (2015), 337–343.
-
(2015)
Nature
, vol.518
, pp. 337-343
-
-
Farh, K.K.1
Marson, A.2
Zhu, J.3
Kleinewietfeld, M.4
Housley, W.J.5
Beik, S.6
Shoresh, N.7
Whitton, H.8
Ryan, R.J.9
Shishkin, A.A.10
-
17
-
-
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
-
18
-
-
84900338300
-
Polarization of the effects of autoimmune and neurodegenerative risk alleles in leukocytes
-
Raj, T., Rothamel, K., Mostafavi, S., Ye, C., Lee, M.N., Replogle, J.M., Feng, T., Lee, M., Asinovski, N., Frohlich, I., et al. Polarization of the effects of autoimmune and neurodegenerative risk alleles in leukocytes. Science 344 (2014), 519–523.
-
(2014)
Science
, vol.344
, pp. 519-523
-
-
Raj, T.1
Rothamel, K.2
Mostafavi, S.3
Ye, C.4
Lee, M.N.5
Replogle, J.M.6
Feng, T.7
Lee, M.8
Asinovski, N.9
Frohlich, I.10
-
19
-
-
85026680407
-
Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer's disease
-
Lu, Q., Powles, R.L., Abdallah, S., Ou, D., Wang, Q., Hu, Y., Lu, Y., Liu, W., Li, B., Mukherjee, S., et al. Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer's disease. PLoS Genet., 13, 2017, e1006933.
-
(2017)
PLoS Genet.
, vol.13
, pp. e1006933
-
-
Lu, Q.1
Powles, R.L.2
Abdallah, S.3
Ou, D.4
Wang, Q.5
Hu, Y.6
Lu, Y.7
Liu, W.8
Li, B.9
Mukherjee, S.10
-
20
-
-
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
-
21
-
-
84923800522
-
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis
-
Paraboschi, E.M., Rimoldi, V., Soldà, G., Tabaglio, T., Dall'Osso, C., Saba, E., Vigliano, M., Salviati, A., Leone, M., Benedetti, M.D., et al. Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. Hum. Mol. Genet. 23 (2014), 6746–6761.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 6746-6761
-
-
Paraboschi, E.M.1
Rimoldi, V.2
Soldà, G.3
Tabaglio, T.4
Dall'Osso, C.5
Saba, E.6
Vigliano, M.7
Salviati, A.8
Leone, M.9
Benedetti, M.D.10
-
22
-
-
84872346018
-
Gain-of-function lipoprotein lipase variant rs13702 modulates lipid traits through disruption of a microRNA-410 seed site
-
Richardson, K., Nettleton, J.A., Rotllan, N., Tanaka, T., Smith, C.E., Lai, C.Q., Parnell, L.D., Lee, Y.C., Lahti, J., Lemaitre, R.N., et al. Gain-of-function lipoprotein lipase variant rs13702 modulates lipid traits through disruption of a microRNA-410 seed site. Am. J. Hum. Genet. 92 (2013), 5–14.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 5-14
-
-
Richardson, K.1
Nettleton, J.A.2
Rotllan, N.3
Tanaka, T.4
Smith, C.E.5
Lai, C.Q.6
Parnell, L.D.7
Lee, Y.C.8
Lahti, J.9
Lemaitre, R.N.10
-
23
-
-
84890340211
-
Common CYP2D6 polymorphisms affecting alternative splicing and transcription: long-range haplotypes with two regulatory variants modulate CYP2D6 activity
-
Wang, D., Poi, M.J., Sun, X., Gaedigk, A., Leeder, J.S., Sadee, W., Common CYP2D6 polymorphisms affecting alternative splicing and transcription: long-range haplotypes with two regulatory variants modulate CYP2D6 activity. Hum. Mol. Genet. 23 (2014), 268–278.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 268-278
-
-
Wang, D.1
Poi, M.J.2
Sun, X.3
Gaedigk, A.4
Leeder, J.S.5
Sadee, W.6
-
24
-
-
80052001024
-
Functional SNP in the microRNA-367 binding site in the 3'UTR of the calcium channel ryanodine receptor gene 3 (RYR3) affects breast cancer risk and calcification
-
Zhang, L., Liu, Y., Song, F., Zheng, H., Hu, L., Lu, H., Liu, P., Hao, X., Zhang, W., Chen, K., Functional SNP in the microRNA-367 binding site in the 3'UTR of the calcium channel ryanodine receptor gene 3 (RYR3) affects breast cancer risk and calcification. Proc. Natl. Acad. Sci. USA 108 (2011), 13653–13658.
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 13653-13658
-
-
Zhang, L.1
Liu, Y.2
Song, F.3
Zheng, H.4
Hu, L.5
Lu, H.6
Liu, P.7
Hao, X.8
Zhang, W.9
Chen, K.10
-
25
-
-
84931834126
-
A pooling-based approach to mapping genetic variants associated with DNA methylation
-
Kaplow, I.M., MacIsaac, J.L., Mah, S.M., McEwen, L.M., Kobor, M.S., Fraser, H.B., A pooling-based approach to mapping genetic variants associated with DNA methylation. Genome Res. 25 (2015), 907–917.
-
(2015)
Genome Res.
, vol.25
, pp. 907-917
-
-
Kaplow, I.M.1
MacIsaac, J.L.2
Mah, S.M.3
McEwen, L.M.4
Kobor, M.S.5
Fraser, H.B.6
-
26
-
-
84953729873
-
Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci
-
Hannon, E., Spiers, H., Viana, J., Pidsley, R., Burrage, J., Murphy, T.M., Troakes, C., Turecki, G., O'Donovan, M.C., Schalkwyk, L.C., et al. Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci. Nat. Neurosci. 19 (2016), 48–54.
-
(2016)
Nat. Neurosci.
, vol.19
, pp. 48-54
-
-
Hannon, E.1
Spiers, H.2
Viana, J.3
Pidsley, R.4
Burrage, J.5
Murphy, T.M.6
Troakes, C.7
Turecki, G.8
O'Donovan, M.C.9
Schalkwyk, L.C.10
-
27
-
-
84857111200
-
DNasecI 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. DNasecI 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
-
28
-
-
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
-
29
-
-
84963611399
-
Pooled ChIP-seq links variation in transcription factor binding to complex disease risk
-
Tehranchi, A.K., Myrthil, M., Martin, T., Hie, B.L., Golan, D., Fraser, H.B., Pooled ChIP-seq links variation in transcription factor binding to complex disease risk. Cell 165 (2016), 730–741.
-
(2016)
Cell
, vol.165
, pp. 730-741
-
-
Tehranchi, A.K.1
Myrthil, M.2
Martin, T.3
Hie, B.L.4
Golan, D.5
Fraser, H.B.6
-
30
-
-
69949176863
-
Common regulatory variation impacts gene expression in a cell type-dependent manner
-
Dimas, A.S., Deutsch, S., Stranger, B.E., Montgomery, S.B., Borel, C., Attar-Cohen, H., Ingle, C., Beazley, C., Gutierrez Arcelus, M., Sekowska, M., et al. Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 325 (2009), 1246–1250.
-
(2009)
Science
, vol.325
, pp. 1246-1250
-
-
Dimas, A.S.1
Deutsch, S.2
Stranger, B.E.3
Montgomery, S.B.4
Borel, C.5
Attar-Cohen, H.6
Ingle, C.7
Beazley, C.8
Gutierrez Arcelus, M.9
Sekowska, M.10
-
31
-
-
84929001104
-
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
-
GTEx Consortium. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348 (2015), 648–660.
-
(2015)
Science
, vol.348
, pp. 648-660
-
-
-
32
-
-
84964272066
-
Direct identification of hundreds of expression-modulating variants using a multiplexed reporter assay
-
Tewhey, R., Kotliar, D., Park, D.S., Liu, B., Winnicki, S., Reilly, S.K., Andersen, K.G., Mikkelsen, T.S., Lander, E.S., Schaffner, S.F., Sabeti, P.C., Direct identification of hundreds of expression-modulating variants using a multiplexed reporter assay. Cell 165 (2016), 1519–1529.
-
(2016)
Cell
, vol.165
, pp. 1519-1529
-
-
Tewhey, R.1
Kotliar, D.2
Park, D.S.3
Liu, B.4
Winnicki, S.5
Reilly, S.K.6
Andersen, K.G.7
Mikkelsen, T.S.8
Lander, E.S.9
Schaffner, S.F.10
Sabeti, P.C.11
-
33
-
-
84863230316
-
Massively parallel functional dissection of mammalian enhancers in vivo
-
Patwardhan, R.P., Hiatt, J.B., Witten, D.M., Kim, M.J., Smith, R.P., May, D., Lee, C., Andrie, J.M., Lee, S.I., Cooper, G.M., et al. Massively parallel functional dissection of mammalian enhancers in vivo. Nat. Biotechnol. 30 (2012), 265–270.
-
(2012)
Nat. Biotechnol.
, vol.30
, pp. 265-270
-
-
Patwardhan, R.P.1
Hiatt, J.B.2
Witten, D.M.3
Kim, M.J.4
Smith, R.P.5
May, D.6
Lee, C.7
Andrie, J.M.8
Lee, S.I.9
Cooper, G.M.10
-
34
-
-
79951473520
-
9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response
-
Harismendy, O., Notani, D., Song, X., Rahim, N.G., Tanasa, B., Heintzman, N., Ren, B., Fu, X.D., Topol, E.J., Rosenfeld, M.G., Frazer, K.A., 9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response. Nature 470 (2011), 264–268.
-
(2011)
Nature
, vol.470
, pp. 264-268
-
-
Harismendy, O.1
Notani, D.2
Song, X.3
Rahim, N.G.4
Tanasa, B.5
Heintzman, N.6
Ren, B.7
Fu, X.D.8
Topol, E.J.9
Rosenfeld, M.G.10
Frazer, K.A.11
-
35
-
-
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
-
36
-
-
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
-
37
-
-
84943171338
-
A global reference for human genetic variation
-
1000 Genomes Project Consortium, Auton, A., Brooks, L.D., et al. 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
-
38
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
International HapMap 3 Consortium, Altshuler, D.M., Gibbs, R.A., et al. Integrating common and rare genetic variation in diverse human populations. Nature 467 (2010), 52–58.
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
Altshuler, D.M.1
Gibbs, R.A.2
-
39
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
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
-
-
-
40
-
-
84923362619
-
Integrative analysis of 111 reference human epigenomes
-
Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., Ziller, M.J., et al., Roadmap Epigenomics Consortium. Integrative analysis of 111 reference human epigenomes. Nature 518 (2015), 317–330.
-
(2015)
Nature
, vol.518
, pp. 317-330
-
-
Kundaje, A.1
Meuleman, W.2
Ernst, J.3
Bilenky, M.4
Yen, A.5
Heravi-Moussavi, A.6
Kheradpour, P.7
Zhang, Z.8
Wang, J.9
Ziller, M.J.10
-
41
-
-
84897459814
-
An atlas of active enhancers across human cell types and tissues
-
Andersson, R., Gebhard, C., Miguel-Escalada, I., Hoof, I., Bornholdt, J., Boyd, M., Chen, Y., Zhao, X., Schmidl, C., Suzuki, T., et al. An atlas of active enhancers across human cell types and tissues. Nature 507 (2014), 455–461.
-
(2014)
Nature
, vol.507
, pp. 455-461
-
-
Andersson, R.1
Gebhard, C.2
Miguel-Escalada, I.3
Hoof, I.4
Bornholdt, J.5
Boyd, M.6
Chen, Y.7
Zhao, X.8
Schmidl, C.9
Suzuki, T.10
-
42
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
1000 Genomes Project Consortium, Abecasis, G.R., Auton, A., et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491 (2012), 56–65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
-
43
-
-
84920818376
-
Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1
-
Glubb, D.M., Maranian, M.J., Michailidou, K., Pooley, K.A., Meyer, K.B., Kar, S., Carlebur, S., O'Reilly, M., Betts, J.A., Hillman, K.M., et al. GENICA Network kConFab Investigators, Norwegian Breast Cancer Study. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. Am. J. Hum. Genet. 96 (2015), 5–20.
-
(2015)
Am. J. Hum. Genet.
, vol.96
, pp. 5-20
-
-
Glubb, D.M.1
Maranian, M.J.2
Michailidou, K.3
Pooley, K.A.4
Meyer, K.B.5
Kar, S.6
Carlebur, S.7
O'Reilly, M.8
Betts, J.A.9
Hillman, K.M.10
-
44
-
-
84893008349
-
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2
-
Wu, Y., Gao, H., Li, H., Tabara, Y., Nakatochi, M., Chiu, Y.F., Park, E.J., Wen, W., Adair, L.S., Borja, J.B., et al. A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. Hum. Mol. Genet. 23 (2014), 1108–1119.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 1108-1119
-
-
Wu, Y.1
Gao, H.2
Li, H.3
Tabara, Y.4
Nakatochi, M.5
Chiu, Y.F.6
Park, E.J.7
Wen, W.8
Adair, L.S.9
Borja, J.B.10
-
45
-
-
84943805735
-
Strategies for fine-mapping complex traits
-
Spain, S.L., Barrett, J.C., Strategies for fine-mapping complex traits. Hum. Mol. Genet. 24:R1 (2015), R111–R119.
-
(2015)
Hum. Mol. Genet.
, vol.24
, Issue.R1
, pp. R111-R119
-
-
Spain, S.L.1
Barrett, J.C.2
-
46
-
-
52949093871
-
African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping
-
Campbell, M.C., Tishkoff, S.A., African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu. Rev. Genomics Hum. Genet. 9 (2008), 403–433.
-
(2008)
Annu. Rev. Genomics Hum. Genet.
, vol.9
, pp. 403-433
-
-
Campbell, M.C.1
Tishkoff, S.A.2
-
47
-
-
84898759184
-
Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription
-
Guthridge, J.M., Lu, R., Sun, H., Sun, C., Wiley, G.B., Dominguez, N., Macwana, S.R., Lessard, C.J., Kim-Howard, X., Cobb, B.L., et al. Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription. Am. J. Hum. Genet. 94 (2014), 586–598.
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 586-598
-
-
Guthridge, J.M.1
Lu, R.2
Sun, H.3
Sun, C.4
Wiley, G.B.5
Dominguez, N.6
Macwana, S.R.7
Lessard, C.J.8
Kim-Howard, X.9
Cobb, B.L.10
-
48
-
-
84857487802
-
Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression
-
Fu, J., Wolfs, M.G., Deelen, P., Westra, H.J., Fehrmann, R.S., Te Meerman, G.J., Buurman, W.A., Rensen, S.S., Groen, H.J., Weersma, R.K., et al. Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. PLoS Genet., 8, 2012, e1002431.
-
(2012)
PLoS Genet.
, vol.8
, pp. e1002431
-
-
Fu, J.1
Wolfs, M.G.2
Deelen, P.3
Westra, H.J.4
Fehrmann, R.S.5
Te Meerman, G.J.6
Buurman, W.A.7
Rensen, S.S.8
Groen, H.J.9
Weersma, R.K.10
-
49
-
-
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
-
50
-
-
84922469439
-
Genomic variation. Impact of regulatory variation from RNA to protein
-
Battle, A., Khan, Z., Wang, S.H., Mitrano, A., Ford, M.J., Pritchard, J.K., Gilad, Y., Genomic variation. Impact of regulatory variation from RNA to protein. Science 347 (2015), 664–667.
-
(2015)
Science
, vol.347
, pp. 664-667
-
-
Battle, A.1
Khan, Z.2
Wang, S.H.3
Mitrano, A.4
Ford, M.J.5
Pritchard, J.K.6
Gilad, Y.7
-
51
-
-
84905912559
-
Identification and validation of genetic variants that influence transcription factor and cell signaling protein levels
-
Hause, R.J., Stark, A.L., Antao, N.N., Gorsic, L.K., Chung, S.H., Brown, C.D., Wong, S.S., Gill, D.F., Myers, J.L., To, L.A., et al. Identification and validation of genetic variants that influence transcription factor and cell signaling protein levels. Am. J. Hum. Genet. 95 (2014), 194–208.
-
(2014)
Am. J. Hum. Genet.
, vol.95
, pp. 194-208
-
-
Hause, R.J.1
Stark, A.L.2
Antao, N.N.3
Gorsic, L.K.4
Chung, S.H.5
Brown, C.D.6
Wong, S.S.7
Gill, D.F.8
Myers, J.L.9
To, L.A.10
-
52
-
-
84879879014
-
Variation and genetic control of protein abundance in humans
-
Wu, L., Candille, S.I., Choi, Y., Xie, D., Jiang, L., Li-Pook-Than, J., Tang, H., Snyder, M., Variation and genetic control of protein abundance in humans. Nature 499 (2013), 79–82.
-
(2013)
Nature
, vol.499
, pp. 79-82
-
-
Wu, L.1
Candille, S.I.2
Choi, Y.3
Xie, D.4
Jiang, L.5
Li-Pook-Than, J.6
Tang, H.7
Snyder, M.8
-
53
-
-
80051968181
-
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
-
Cooper, G.M., Shendure, J., Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat. Rev. Genet. 12 (2011), 628–640.
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 628-640
-
-
Cooper, G.M.1
Shendure, J.2
-
54
-
-
84938987369
-
Long-range modulation of PAG1 expression by 8q21 allergy risk variants
-
Vicente, C.T., Edwards, S.L., Hillman, K.M., Kaufmann, S., Mitchell, H., Bain, L., Glubb, D.M., Lee, J.S., French, J.D., Ferreira, M.A., Long-range modulation of PAG1 expression by 8q21 allergy risk variants. Am. J. Hum. Genet. 97 (2015), 329–336.
-
(2015)
Am. J. Hum. Genet.
, vol.97
, pp. 329-336
-
-
Vicente, C.T.1
Edwards, S.L.2
Hillman, K.M.3
Kaufmann, S.4
Mitchell, H.5
Bain, L.6
Glubb, D.M.7
Lee, J.S.8
French, J.D.9
Ferreira, M.A.10
-
55
-
-
84971654919
-
Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures
-
Wang, X., Tucker, N.R., Rizki, G., Mills, R., Krijger, P.H., de Wit, E., Subramanian, V., Bartell, E., Nguyen, X.X., Ye, J., et al. Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures. eLife, 5, 2016, e10557.
-
(2016)
eLife
, vol.5
, pp. e10557
-
-
Wang, X.1
Tucker, N.R.2
Rizki, G.3
Mills, R.4
Krijger, P.H.5
de Wit, E.6
Subramanian, V.7
Bartell, E.8
Nguyen, X.X.9
Ye, J.10
-
56
-
-
84952317656
-
Making sense of GWAS: Using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome
-
57-015-0050-4. eCollection 2015
-
Tak, Y.G., Farnham, P.J., Making sense of GWAS: Using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome. Epigenetics Chromatin, 8, 2015 57-015-0050-4. eCollection 2015.
-
(2015)
Epigenetics Chromatin
, vol.8
-
-
Tak, Y.G.1
Farnham, P.J.2
-
57
-
-
84923786414
-
The selection and function of cell type-specific enhancers
-
Heinz, S., Romanoski, C.E., Benner, C., Glass, C.K., The selection and function of cell type-specific enhancers. Nat. Rev. Mol. Cell Biol. 16 (2015), 144–154.
-
(2015)
Nat. Rev. Mol. Cell Biol.
, vol.16
, pp. 144-154
-
-
Heinz, S.1
Romanoski, C.E.2
Benner, C.3
Glass, C.K.4
-
58
-
-
84939255435
-
Decoding enhancers using massively parallel reporter assays
-
Inoue, F., Ahituv, N., Decoding enhancers using massively parallel reporter assays. Genomics 106 (2015), 159–164.
-
(2015)
Genomics
, vol.106
, pp. 159-164
-
-
Inoue, F.1
Ahituv, N.2
-
59
-
-
84884611024
-
Integrative modeling of eQTLs and cis-regulatory elements suggests mechanisms underlying cell type specificity of eQTLs
-
Brown, C.D., Mangravite, L.M., Engelhardt, B.E., Integrative modeling of eQTLs and cis-regulatory elements suggests mechanisms underlying cell type specificity of eQTLs. PLoS Genet., 9, 2013, e1003649.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003649
-
-
Brown, C.D.1
Mangravite, L.M.2
Engelhardt, B.E.3
-
60
-
-
84971644070
-
Decoding transcriptional enhancers: Evolving from annotation to functional interpretation
-
Engel, K.L., Mackiewicz, M., Hardigan, A.A., Myers, R.M., Savic, D., Decoding transcriptional enhancers: Evolving from annotation to functional interpretation. Semin. Cell Dev. Biol. 57 (2016), 40–50.
-
(2016)
Semin. Cell Dev. Biol.
, vol.57
, pp. 40-50
-
-
Engel, K.L.1
Mackiewicz, M.2
Hardigan, A.A.3
Myers, R.M.4
Savic, D.5
-
61
-
-
85006058313
-
Genome-editing technologies: Principles and applications
-
Gaj, T., Sirk, S.J., Shui, S.L., Liu, J., Genome-editing technologies: Principles and applications. Cold Spring Harb. Perspect. Biol., 8, 2016, a023754, 10.1101/cshperspect.a023754.
-
(2016)
Cold Spring Harb. Perspect. Biol.
, vol.8
, pp. a023754
-
-
Gaj, T.1
Sirk, S.J.2
Shui, S.L.3
Liu, J.4
-
62
-
-
84885620722
-
An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level
-
Bauer, D.E., Kamran, S.C., Lessard, S., Xu, J., Fujiwara, Y., Lin, C., Shao, Z., Canver, M.C., Smith, E.C., Pinello, L., et al. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science 342 (2013), 253–257.
-
(2013)
Science
, vol.342
, pp. 253-257
-
-
Bauer, D.E.1
Kamran, S.C.2
Lessard, S.3
Xu, J.4
Fujiwara, Y.5
Lin, C.6
Shao, Z.7
Canver, M.C.8
Smith, E.C.9
Pinello, L.10
-
63
-
-
84975091199
-
Fetal haemoglobin in sickle-cell disease: from genetic epidemiology to new therapeutic strategies
-
Lettre, G., Bauer, D.E., Fetal haemoglobin in sickle-cell disease: from genetic epidemiology to new therapeutic strategies. Lancet 387 (2016), 2554–2564.
-
(2016)
Lancet
, vol.387
, pp. 2554-2564
-
-
Lettre, G.1
Bauer, D.E.2
-
64
-
-
84895800675
-
A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding
-
Huang, Q., Whitington, T., Gao, P., Lindberg, J.F., Yang, Y., Sun, J., Väisänen, M.R., Szulkin, R., Annala, M., Yan, J., et al. A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding. Nat. Genet. 46 (2014), 126–135.
-
(2014)
Nat. Genet.
, vol.46
, pp. 126-135
-
-
Huang, Q.1
Whitington, T.2
Gao, P.3
Lindberg, J.F.4
Yang, Y.5
Sun, J.6
Väisänen, M.R.7
Szulkin, R.8
Annala, M.9
Yan, J.10
-
65
-
-
84946221310
-
CAUSEL: an epigenome- and genome-editing pipeline for establishing function of noncoding GWAS variants
-
Spisák, S., Lawrenson, K., Fu, Y., Csabai, I., Cottman, R.T., Seo, J.H., Haiman, C., Han, Y., Lenci, R., Li, Q., et al., GAME-ON/ELLIPSE Consortium. CAUSEL: an epigenome- and genome-editing pipeline for establishing function of noncoding GWAS variants. Nat. Med. 21 (2015), 1357–1363.
-
(2015)
Nat. Med.
, vol.21
, pp. 1357-1363
-
-
Spisák, S.1
Lawrenson, K.2
Fu, Y.3
Csabai, I.4
Cottman, R.T.5
Seo, J.H.6
Haiman, C.7
Han, Y.8
Lenci, R.9
Li, Q.10
-
66
-
-
84886084801
-
Locus-specific editing of histone modifications at endogenous enhancers
-
Mendenhall, E.M., Williamson, K.E., Reyon, D., Zou, J.Y., Ram, O., Joung, J.K., Bernstein, B.E., Locus-specific editing of histone modifications at endogenous enhancers. Nat. Biotechnol. 31 (2013), 1133–1136.
-
(2013)
Nat. Biotechnol.
, vol.31
, pp. 1133-1136
-
-
Mendenhall, E.M.1
Williamson, K.E.2
Reyon, D.3
Zou, J.Y.4
Ram, O.5
Joung, J.K.6
Bernstein, B.E.7
-
67
-
-
84952639685
-
Beyond editing: repurposing CRISPR-Cas9 for precision genome regulation and interrogation
-
Dominguez, A.A., Lim, W.A., Qi, L.S., Beyond editing: repurposing CRISPR-Cas9 for precision genome regulation and interrogation. Nat. Rev. Mol. Cell Biol. 17 (2016), 5–15.
-
(2016)
Nat. Rev. Mol. Cell Biol.
, vol.17
, pp. 5-15
-
-
Dominguez, A.A.1
Lim, W.A.2
Qi, L.S.3
-
68
-
-
84971238775
-
Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression
-
Soldner, F., Stelzer, Y., Shivalila, C.S., Abraham, B.J., Latourelle, J.C., Barrasa, M.I., Goldmann, J., Myers, R.H., Young, R.A., Jaenisch, R., Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression. Nature 533 (2016), 95–99.
-
(2016)
Nature
, vol.533
, pp. 95-99
-
-
Soldner, F.1
Stelzer, Y.2
Shivalila, C.S.3
Abraham, B.J.4
Latourelle, J.C.5
Barrasa, M.I.6
Goldmann, J.7
Myers, R.H.8
Young, R.A.9
Jaenisch, R.10
-
69
-
-
0242300619
-
alpha-Synuclein locus triplication causes Parkinson's disease
-
Singleton, A.B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R., et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science, 302, 2003, 841.
-
(2003)
Science
, vol.302
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
Singleton, A.4
Hague, S.5
Kachergus, J.6
Hulihan, M.7
Peuralinna, T.8
Dutra, A.9
Nussbaum, R.10
-
70
-
-
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
-
71
-
-
84926189204
-
Three-dimensional genome architecture: players and mechanisms
-
Pombo, A., Dillon, N., Three-dimensional genome architecture: players and mechanisms. Nat. Rev. Mol. Cell Biol. 16 (2015), 245–257.
-
(2015)
Nat. Rev. Mol. Cell Biol.
, vol.16
, pp. 245-257
-
-
Pombo, A.1
Dillon, N.2
-
72
-
-
84975705572
-
The second decade of 3C technologies: detailed insights into nuclear organization
-
Denker, A., de Laat, W., The second decade of 3C technologies: detailed insights into nuclear organization. Genes Dev. 30 (2016), 1357–1382.
-
(2016)
Genes Dev.
, vol.30
, pp. 1357-1382
-
-
Denker, A.1
de Laat, W.2
-
73
-
-
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
-
74
-
-
84878594902
-
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
-
Berndt, S.I., Gustafsson, S., Mägi, R., Ganna, A., Wheeler, E., Feitosa, M.F., Justice, A.E., Monda, K.L., Croteau-Chonka, D.C., Day, F.R., et al. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat. Genet. 45 (2013), 501–512.
-
(2013)
Nat. Genet.
, vol.45
, pp. 501-512
-
-
Berndt, S.I.1
Gustafsson, S.2
Mägi, R.3
Ganna, A.4
Wheeler, E.5
Feitosa, M.F.6
Justice, A.E.7
Monda, K.L.8
Croteau-Chonka, D.C.9
Day, F.R.10
-
75
-
-
78649459183
-
Overexpression of Fto leads to increased food intake and results in obesity
-
Church, C., Moir, L., McMurray, F., Girard, C., Banks, G.T., Teboul, L., Wells, S., Brüning, J.C., Nolan, P.M., Ashcroft, F.M., Cox, R.D., Overexpression of Fto leads to increased food intake and results in obesity. Nat. Genet. 42 (2010), 1086–1092.
-
(2010)
Nat. Genet.
, vol.42
, pp. 1086-1092
-
-
Church, C.1
Moir, L.2
McMurray, F.3
Girard, C.4
Banks, G.T.5
Teboul, L.6
Wells, S.7
Brüning, J.C.8
Nolan, P.M.9
Ashcroft, F.M.10
Cox, R.D.11
-
76
-
-
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
-
77
-
-
78649512744
-
The fat mass and obesity associated gene FTO functions in the brain to regulate postnatal growth in mice
-
Gao, X., Shin, Y.H., Li, M., Wang, F., Tong, Q., Zhang, P., The fat mass and obesity associated gene FTO functions in the brain to regulate postnatal growth in mice. PLoS ONE, 5, 2010, e14005.
-
(2010)
PLoS ONE
, vol.5
, pp. e14005
-
-
Gao, X.1
Shin, Y.H.2
Li, M.3
Wang, F.4
Tong, Q.5
Zhang, P.6
-
78
-
-
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
-
79
-
-
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
-
80
-
-
84881498584
-
Allelic exclusion of the immunoglobulin heavy chain locus is independent of its nuclear localization in mature B cells
-
Holwerda, S.J., van de Werken, H.J., Ribeiro de Almeida, C., Bergen, I.M., de Bruijn, M.J., Verstegen, M.J., Simonis, M., Splinter, E., Wijchers, P.J., Hendriks, R.W., de Laat, W., Allelic exclusion of the immunoglobulin heavy chain locus is independent of its nuclear localization in mature B cells. Nucleic Acids Res. 41 (2013), 6905–6916.
-
(2013)
Nucleic Acids Res.
, vol.41
, pp. 6905-6916
-
-
Holwerda, S.J.1
van de Werken, H.J.2
Ribeiro de Almeida, C.3
Bergen, I.M.4
de Bruijn, M.J.5
Verstegen, M.J.6
Simonis, M.7
Splinter, E.8
Wijchers, P.J.9
Hendriks, R.W.10
de Laat, W.11
-
81
-
-
84897568562
-
HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers
-
Stadhouders, R., Aktuna, S., Thongjuea, S., Aghajanirefah, A., Pourfarzad, F., van Ijcken, W., Lenhard, B., Rooks, H., Best, S., Menzel, S., et al. HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. J. Clin. Invest. 124 (2014), 1699–1710.
-
(2014)
J. Clin. Invest.
, vol.124
, pp. 1699-1710
-
-
Stadhouders, R.1
Aktuna, S.2
Thongjuea, S.3
Aghajanirefah, A.4
Pourfarzad, F.5
van Ijcken, W.6
Lenhard, B.7
Rooks, H.8
Best, S.9
Menzel, S.10
-
82
-
-
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
-
83
-
-
84962106221
-
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
-
Dunning, A.M., Michailidou, K., Kuchenbaecker, K.B., Thompson, D., French, J.D., Beesley, J., Healey, C.S., Kar, S., Pooley, K.A., Lopez-Knowles, E., et al. EMBRACE GEMO Study Collaborators HEBON, kConFab Investigators. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat. Genet. 48 (2016), 374–386.
-
(2016)
Nat. Genet.
, vol.48
, pp. 374-386
-
-
Dunning, A.M.1
Michailidou, K.2
Kuchenbaecker, K.B.3
Thompson, D.4
French, J.D.5
Beesley, J.6
Healey, C.S.7
Kar, S.8
Pooley, K.A.9
Lopez-Knowles, E.10
-
84
-
-
84920763076
-
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
-
Ghoussaini, M., Edwards, S.L., Michailidou, K., Nord, S., Cowper-Sal Lari, R., Desai, K., Kar, S., Hillman, K.M., Kaufmann, S., Glubb, D.M., et al. Australian Ovarian Cancer Management Group, Australian Ovarian Cancer Management Group. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nat. Commun., 4, 2014, 4999.
-
(2014)
Nat. Commun.
, vol.4
, pp. 4999
-
-
Ghoussaini, M.1
Edwards, S.L.2
Michailidou, K.3
Nord, S.4
Cowper-Sal Lari, R.5
Desai, K.6
Kar, S.7
Hillman, K.M.8
Kaufmann, S.9
Glubb, D.M.10
-
85
-
-
85031814681
-
A dementia-associated risk variant near TMEM106B alters chromatin architecture and gene expression
-
Gallagher, M.D., Posavi, M., Huang, P., Unger, T.L., Berlyand, Y., Gruenewald, A.L., Chesi, A., Manduchi, E., Wells, A.D., Grant, S.F.A., et al. A dementia-associated risk variant near TMEM106B alters chromatin architecture and gene expression. Am. J. Hum. Genet. 101 (2017), 643–663.
-
(2017)
Am. J. Hum. Genet.
, vol.101
, pp. 643-663
-
-
Gallagher, M.D.1
Posavi, M.2
Huang, P.3
Unger, T.L.4
Berlyand, Y.5
Gruenewald, A.L.6
Chesi, A.7
Manduchi, E.8
Wells, A.D.9
Grant, S.F.A.10
-
86
-
-
84895832107
-
Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment
-
Hughes, J.R., Roberts, N., McGowan, S., Hay, D., Giannoulatou, E., Lynch, M., De Gobbi, M., Taylor, S., Gibbons, R., Higgs, D.R., Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment. Nat. Genet. 46 (2014), 205–212.
-
(2014)
Nat. Genet.
, vol.46
, pp. 205-212
-
-
Hughes, J.R.1
Roberts, N.2
McGowan, S.3
Hay, D.4
Giannoulatou, E.5
Lynch, M.6
De Gobbi, M.7
Taylor, S.8
Gibbons, R.9
Higgs, D.R.10
-
87
-
-
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
-
88
-
-
34548169696
-
Electrophoretic mobility shift assay (EMSA) for detecting protein-nucleic acid interactions
-
Hellman, L.M., Fried, M.G., Electrophoretic mobility shift assay (EMSA) for detecting protein-nucleic acid interactions. Nat. Protoc. 2 (2007), 1849–1861.
-
(2007)
Nat. Protoc.
, vol.2
, pp. 1849-1861
-
-
Hellman, L.M.1
Fried, M.G.2
-
89
-
-
33749250049
-
The identification of nucleic acid-interacting proteins using a simple proteomics-based approach that directly incorporates the electrophoretic mobility shift assay
-
Stead, J.A., Keen, J.N., McDowall, K.J., The identification of nucleic acid-interacting proteins using a simple proteomics-based approach that directly incorporates the electrophoretic mobility shift assay. Mol. Cell. Proteomics 5 (2006), 1697–1702.
-
(2006)
Mol. Cell. Proteomics
, vol.5
, pp. 1697-1702
-
-
Stead, J.A.1
Keen, J.N.2
McDowall, K.J.3
-
90
-
-
84907584433
-
Identification of a regulatory variant that binds FOXA1 and FOXA2 at the CDC123/CAMK1D type 2 diabetes GWAS locus
-
Fogarty, M.P., Cannon, M.E., Vadlamudi, S., Gaulton, K.J., Mohlke, K.L., Identification of a regulatory variant that binds FOXA1 and FOXA2 at the CDC123/CAMK1D type 2 diabetes GWAS locus. PLoS Genet., 10, 2014, e1004633.
-
(2014)
PLoS Genet.
, vol.10
, pp. e1004633
-
-
Fogarty, M.P.1
Cannon, M.E.2
Vadlamudi, S.3
Gaulton, K.J.4
Mohlke, K.L.5
-
91
-
-
84902245734
-
An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval
-
Kapoor, A., Sekar, R.B., Hansen, N.F., Fox-Talbot, K., Morley, M., Pihur, V., Chatterjee, S., Brandimarto, J., Moravec, C.S., Pulit, S.L., et al., QT Interval-International GWAS Consortium. An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. Am. J. Hum. Genet. 94 (2014), 854–869.
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 854-869
-
-
Kapoor, A.1
Sekar, R.B.2
Hansen, N.F.3
Fox-Talbot, K.4
Morley, M.5
Pihur, V.6
Chatterjee, S.7
Brandimarto, J.8
Moravec, C.S.9
Pulit, S.L.10
-
92
-
-
84857192750
-
HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter
-
Visser, M., Kayser, M., Palstra, R.J., HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Genome Res. 22 (2012), 446–455.
-
(2012)
Genome Res.
, vol.22
, pp. 446-455
-
-
Visser, M.1
Kayser, M.2
Palstra, R.J.3
-
93
-
-
0030882856
-
Alpha-synuclein in Lewy bodies
-
Spillantini, M.G., Schmidt, M.L., Lee, V.M., Trojanowski, J.Q., Jakes, R., Goedert, M., Alpha-synuclein in Lewy bodies. Nature 388 (1997), 839–840.
-
(1997)
Nature
, vol.388
, pp. 839-840
-
-
Spillantini, M.G.1
Schmidt, M.L.2
Lee, V.M.3
Trojanowski, J.Q.4
Jakes, R.5
Goedert, M.6
-
94
-
-
0030744876
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
Polymeropoulos, M.H., Lavedan, C., Leroy, E., Ide, S.E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276 (1997), 2045–2047.
-
(1997)
Science
, vol.276
, pp. 2045-2047
-
-
Polymeropoulos, M.H.1
Lavedan, C.2
Leroy, E.3
Ide, S.E.4
Dehejia, A.5
Dutra, A.6
Pike, B.7
Root, H.8
Rubenstein, J.9
Boyer, R.10
-
95
-
-
85020941675
-
An expanded view of complex traits: From polygenic to omnigenic
-
Boyle, E.A., Li, Y.I., Pritchard, J.K., An expanded view of complex traits: From polygenic to omnigenic. Cell 169 (2017), 1177–1186.
-
(2017)
Cell
, vol.169
, pp. 1177-1186
-
-
Boyle, E.A.1
Li, Y.I.2
Pritchard, J.K.3
-
96
-
-
77649136250
-
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
-
Van Deerlin, V.M., Sleiman, P.M., Martinez-Lage, M., Chen-Plotkin, A., Wang, L.S., Graff-Radford, N.R., Dickson, D.W., Rademakers, R., Boeve, B.F., Grossman, M., et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat. Genet. 42 (2010), 234–239.
-
(2010)
Nat. Genet.
, vol.42
, pp. 234-239
-
-
Van Deerlin, V.M.1
Sleiman, P.M.2
Martinez-Lage, M.3
Chen-Plotkin, A.4
Wang, L.S.5
Graff-Radford, N.R.6
Dickson, D.W.7
Rademakers, R.8
Boeve, B.F.9
Grossman, M.10
-
97
-
-
79951494607
-
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
-
Finch, N., Carrasquillo, M.M., Baker, M., Rutherford, N.J., Coppola, G., Dejesus-Hernandez, M., Crook, R., Hunter, T., Ghidoni, R., Benussi, L., et al. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology 76 (2011), 467–474.
-
(2011)
Neurology
, vol.76
, pp. 467-474
-
-
Finch, N.1
Carrasquillo, M.M.2
Baker, M.3
Rutherford, N.J.4
Coppola, G.5
Dejesus-Hernandez, M.6
Crook, R.7
Hunter, T.8
Ghidoni, R.9
Benussi, L.10
-
98
-
-
79952148055
-
TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort
-
van der Zee, J., Van Langenhove, T., Kleinberger, G., Sleegers, K., Engelborghs, S., Vandenberghe, R., Santens, P., Van den Broeck, M., Joris, G., Brys, J., et al. TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort. Brain 134 (2011), 808–815.
-
(2011)
Brain
, vol.134
, pp. 808-815
-
-
van der Zee, J.1
Van Langenhove, T.2
Kleinberger, G.3
Sleegers, K.4
Engelborghs, S.5
Vandenberghe, R.6
Santens, P.7
Van den Broeck, M.8
Joris, G.9
Brys, J.10
-
99
-
-
84865008239
-
TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways
-
Chen-Plotkin, A.S., Unger, T.L., Gallagher, M.D., Bill, E., Kwong, L.K., Volpicelli-Daley, L., Busch, J.I., Akle, S., Grossman, M., Van Deerlin, V., et al. TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways. J. Neurosci. 32 (2012), 11213–11227.
-
(2012)
J. Neurosci.
, vol.32
, pp. 11213-11227
-
-
Chen-Plotkin, A.S.1
Unger, T.L.2
Gallagher, M.D.3
Bill, E.4
Kwong, L.K.5
Volpicelli-Daley, L.6
Busch, J.I.7
Akle, S.8
Grossman, M.9
Van Deerlin, V.10
-
100
-
-
84873050230
-
The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function
-
Brady, O.A., Zheng, Y., Murphy, K., Huang, M., Hu, F., The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function. Hum. Mol. Genet. 22 (2013), 685–695.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 685-695
-
-
Brady, O.A.1
Zheng, Y.2
Murphy, K.3
Huang, M.4
Hu, F.5
-
101
-
-
85015992433
-
Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes
-
Busch, J.I., Unger, T.L., Jain, N., Tyler Skrinak, R., Charan, R.A., Chen-Plotkin, A.S., Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes. Hum. Mol. Genet. 25 (2016), 2681–2697.
-
(2016)
Hum. Mol. Genet.
, vol.25
, pp. 2681-2697
-
-
Busch, J.I.1
Unger, T.L.2
Jain, N.3
Tyler Skrinak, R.4
Charan, R.A.5
Chen-Plotkin, A.S.6
-
102
-
-
84905373368
-
Lysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106B
-
Stagi, M., Klein, Z.A., Gould, T.J., Bewersdorf, J., Strittmatter, S.M., Lysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106B. Mol. Cell. Neurosci. 61 (2014), 226–240.
-
(2014)
Mol. Cell. Neurosci.
, vol.61
, pp. 226-240
-
-
Stagi, M.1
Klein, Z.A.2
Gould, T.J.3
Bewersdorf, J.4
Strittmatter, S.M.5
-
103
-
-
79955748378
-
Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels
-
Cruchaga, C., Graff, C., Chiang, H.H., Wang, J., Hinrichs, A.L., Spiegel, N., Bertelsen, S., Mayo, K., Norton, J.B., Morris, J.C., Goate, A., Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. Arch. Neurol. 68 (2011), 581–586.
-
(2011)
Arch. Neurol.
, vol.68
, pp. 581-586
-
-
Cruchaga, C.1
Graff, C.2
Chiang, H.H.3
Wang, J.4
Hinrichs, A.L.5
Spiegel, N.6
Bertelsen, S.7
Mayo, K.8
Norton, J.B.9
Morris, J.C.10
Goate, A.11
-
104
-
-
84896738170
-
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
-
Gallagher, M.D., Suh, E., Grossman, M., Elman, L., McCluskey, L., Van Swieten, J.C., Al-Sarraj, S., Neumann, M., Gelpi, E., Ghetti, B., et al. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol. 127 (2014), 407–418.
-
(2014)
Acta Neuropathol.
, vol.127
, pp. 407-418
-
-
Gallagher, M.D.1
Suh, E.2
Grossman, M.3
Elman, L.4
McCluskey, L.5
Van Swieten, J.C.6
Al-Sarraj, S.7
Neumann, M.8
Gelpi, E.9
Ghetti, B.10
-
105
-
-
79954436511
-
Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis
-
Vass, R., Ashbridge, E., Geser, F., Hu, W.T., Grossman, M., Clay-Falcone, D., Elman, L., McCluskey, L., Lee, V.M., Van Deerlin, V.M., et al. Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis. Acta Neuropathol. 121 (2011), 373–380.
-
(2011)
Acta Neuropathol.
, vol.121
, pp. 373-380
-
-
Vass, R.1
Ashbridge, E.2
Geser, F.3
Hu, W.T.4
Grossman, M.5
Clay-Falcone, D.6
Elman, L.7
McCluskey, L.8
Lee, V.M.9
Van Deerlin, V.M.10
-
106
-
-
85015019999
-
Differential aging analysis in human cerebral cortex identifies variants in TMEM106B and GRN that regulate aging phenotypes
-
Rhinn, H., Abeliovich, A., Differential aging analysis in human cerebral cortex identifies variants in TMEM106B and GRN that regulate aging phenotypes. Cell Syst. 4 (2017), 404–415.e5.
-
(2017)
Cell Syst.
, vol.4
, pp. 404-415.e5
-
-
Rhinn, H.1
Abeliovich, A.2
-
107
-
-
85018366108
-
Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data
-
White, C.C., Yang, H.S., Yu, L., Chibnik, L.B., Dawe, R.J., Yang, J., Klein, H.U., Felsky, D., Ramos-Miguel, A., Arfanakis, K., et al. Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data. PLoS Med., 14, 2017, e1002287.
-
(2017)
PLoS Med.
, vol.14
, pp. e1002287
-
-
White, C.C.1
Yang, H.S.2
Yu, L.3
Chibnik, L.B.4
Dawe, R.J.5
Yang, J.6
Klein, H.U.7
Felsky, D.8
Ramos-Miguel, A.9
Arfanakis, K.10
|