-
1
-
-
84862909349
-
Five years of GWAS discovery
-
Visscher, P.M., Brown, M.A., McCarthy, M.I., Yang, J., Five years of GWAS discovery. Am. J. Hum. Genet. 90 (2012), 7–24.
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 7-24
-
-
Visscher, P.M.1
Brown, M.A.2
McCarthy, M.I.3
Yang, J.4
-
2
-
-
70350221909
-
Copy number variation in human health, disease, and evolution
-
Zhang, F., Gu, W., Hurles, M.E., Lupski, J.R., Copy number variation in human health, disease, and evolution. Annu. Rev. Genomics Hum. Genet. 10 (2009), 451–481.
-
(2009)
Annu. Rev. Genomics Hum. Genet.
, vol.10
, pp. 451-481
-
-
Zhang, F.1
Gu, W.2
Hurles, M.E.3
Lupski, J.R.4
-
3
-
-
0020744702
-
Properties of a neutral allele model with intragenic recombination
-
Hudson, R.R., Properties of a neutral allele model with intragenic recombination. Theor. Popul. Biol. 23 (1983), 183–201.
-
(1983)
Theor. Popul. Biol.
, vol.23
, pp. 183-201
-
-
Hudson, R.R.1
-
4
-
-
17844403270
-
Allele frequencies and the r2 measure of linkage disequilibrium: impact on design and interpretation of association studies
-
Wray, N.R., Allele frequencies and the r2 measure of linkage disequilibrium: impact on design and interpretation of association studies. Twin Res. Hum. Genet. 8 (2005), 87–94.
-
(2005)
Twin Res. Hum. Genet.
, vol.8
, pp. 87-94
-
-
Wray, N.R.1
-
5
-
-
35348817330
-
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
-
Browning, S.R., Browning, B.L., Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am. J. Hum. Genet. 81 (2007), 1084–1097.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 1084-1097
-
-
Browning, S.R.1
Browning, B.L.2
-
6
-
-
78649508578
-
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
-
Li, Y., Willer, C.J., Ding, J., Scheet, P., Abecasis, G.R., MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol. 34 (2010), 816–834.
-
(2010)
Genet. Epidemiol.
, vol.34
, pp. 816-834
-
-
Li, Y.1
Willer, C.J.2
Ding, J.3
Scheet, P.4
Abecasis, G.R.5
-
7
-
-
34347344976
-
A new multipoint method for genome-wide association studies by imputation of genotypes
-
Marchini, J., Howie, B., Myers, S., McVean, G., Donnelly, P., A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet. 39 (2007), 906–913.
-
(2007)
Nat. Genet.
, vol.39
, pp. 906-913
-
-
Marchini, J.1
Howie, B.2
Myers, S.3
McVean, G.4
Donnelly, P.5
-
8
-
-
84983479616
-
A reference panel of 64,976 haplotypes for genotype imputation
-
McCarthy, S., Das, S., Kretzschmar, W., Delaneau, O., Wood, A.R., Teumer, A., Kang, H.M., Fuchsberger, C., Danecek, P., Sharp, K., et al. A reference panel of 64,976 haplotypes for genotype imputation. Nat. Genet. 48 (2016), 1279–1283.
-
(2016)
Nat. Genet.
, vol.48
, pp. 1279-1283
-
-
McCarthy, S.1
Das, S.2
Kretzschmar, W.3
Delaneau, O.4
Wood, A.R.5
Teumer, A.6
Kang, H.M.7
Fuchsberger, C.8
Danecek, P.9
Sharp, K.10
-
9
-
-
77949789670
-
Comparing apples and oranges: equating the power of case-control and quantitative trait association studies
-
Yang, J., Wray, N.R., Visscher, P.M., Comparing apples and oranges: equating the power of case-control and quantitative trait association studies. Genet. Epidemiol. 34 (2010), 254–257.
-
(2010)
Genet. Epidemiol.
, vol.34
, pp. 254-257
-
-
Yang, J.1
Wray, N.R.2
Visscher, P.M.3
-
10
-
-
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
-
11
-
-
80052259316
-
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations
-
Torgerson, D.G., Ampleford, E.J., Chiu, G.Y., Gauderman, W.J., Gignoux, C.R., Graves, P.E., Himes, B.E., Levin, A.M., Mathias, R.A., Hancock, D.B., et al. Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Nat. Genet. 43 (2011), 887–892.
-
(2011)
Nat. Genet.
, vol.43
, pp. 887-892
-
-
Torgerson, D.G.1
Ampleford, E.J.2
Chiu, G.Y.3
Gauderman, W.J.4
Gignoux, C.R.5
Graves, P.E.6
Himes, B.E.7
Levin, A.M.8
Mathias, R.A.9
Hancock, D.B.10
-
12
-
-
84879655915
-
High trans-ethnic replicability of GWAS results implies common causal variants
-
Marigorta, U.M., Navarro, A., High trans-ethnic replicability of GWAS results implies common causal variants. PLoS Genet., 9, 2013, e1003566.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003566
-
-
Marigorta, U.M.1
Navarro, A.2
-
13
-
-
34948877698
-
Prediction of individual genetic risk to disease from genome-wide association studies
-
Wray, N.R., Goddard, M.E., Visscher, P.M., Prediction of individual genetic risk to disease from genome-wide association studies. Genome Res. 17 (2007), 1520–1528.
-
(2007)
Genome Res.
, vol.17
, pp. 1520-1528
-
-
Wray, N.R.1
Goddard, M.E.2
Visscher, P.M.3
-
14
-
-
68449086236
-
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
-
International Schizophrenia Consortium. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460 (2009), 748–752.
-
(2009)
Nature
, vol.460
, pp. 748-752
-
-
-
15
-
-
84904804929
-
Biological insights from 108 schizophrenia-associated genetic loci
-
Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511 (2014), 421–427.
-
(2014)
Nature
, vol.511
, pp. 421-427
-
-
-
16
-
-
55549147191
-
Personal genomes: The case of the missing heritability
-
Maher, B., Personal genomes: The case of the missing heritability. Nature 456 (2008), 18–21.
-
(2008)
Nature
, vol.456
, pp. 18-21
-
-
Maher, B.1
-
17
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio, T.A., Collins, F.S., Cox, N.J., Goldstein, D.B., Hindorff, L.A., Hunter, D.J., McCarthy, M.I., Ramos, E.M., Cardon, L.R., Chakravarti, A., et al. Finding the missing heritability of complex diseases. Nature 461 (2009), 747–753.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
McCarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
-
18
-
-
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. 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
-
19
-
-
0003873122
-
Genetics and analysis of quantitative traits
-
Sinauer Associates
-
Lynch, M., Walsh, B., Genetics and analysis of quantitative traits. 1998, Sinauer Associates.
-
(1998)
-
-
Lynch, M.1
Walsh, B.2
-
20
-
-
85000692305
-
An atlas of genetic correlations across human diseases and traits
-
Bulik-Sullivan, B., Finucane, H.K., Anttila, V., Gusev, A., Day, F.R., Loh, P.R. ReproGen Consortium Psychiatric Genomics Consortium Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium 3, Duncan, L., et al. An atlas of genetic correlations across human diseases and traits. Nat. Genet. 47 (2015), 1236–1241.
-
(2015)
Nat. Genet.
, vol.47
, pp. 1236-1241
-
-
Bulik-Sullivan, B.1
Finucane, H.K.2
Anttila, V.3
Gusev, A.4
Day, F.R.5
Loh, P.R.6
Duncan, L.7
-
21
-
-
84968649781
-
Detection and interpretation of shared genetic influences on 42 human traits
-
Pickrell, J.K., Berisa, T., Liu, J.Z., Ségurel, L., Tung, J.Y., Hinds, D.A., Detection and interpretation of shared genetic influences on 42 human traits. Nat. Genet. 48 (2016), 709–717.
-
(2016)
Nat. Genet.
, vol.48
, pp. 709-717
-
-
Pickrell, J.K.1
Berisa, T.2
Liu, J.Z.3
Ségurel, L.4
Tung, J.Y.5
Hinds, D.A.6
-
22
-
-
80955135827
-
Abundant pleiotropy in human complex diseases and traits
-
Sivakumaran, S., Agakov, F., Theodoratou, E., Prendergast, J.G., Zgaga, L., Manolio, T., Rudan, I., McKeigue, P., Wilson, J.F., Campbell, H., Abundant pleiotropy in human complex diseases and traits. Am. J. Hum. Genet. 89 (2011), 607–618.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 607-618
-
-
Sivakumaran, S.1
Agakov, F.2
Theodoratou, E.3
Prendergast, J.G.4
Zgaga, L.5
Manolio, T.6
Rudan, I.7
McKeigue, P.8
Wilson, J.F.9
Campbell, H.10
-
23
-
-
84882449068
-
Genetic insights into common pathways and complex relationships among immune-mediated diseases
-
Parkes, M., Cortes, A., van Heel, D.A., Brown, M.A., Genetic insights into common pathways and complex relationships among immune-mediated diseases. Nat. Rev. Genet. 14 (2013), 661–673.
-
(2013)
Nat. Rev. Genet.
, vol.14
, pp. 661-673
-
-
Parkes, M.1
Cortes, A.2
van Heel, D.A.3
Brown, M.A.4
-
24
-
-
84964772502
-
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
-
Ellinghaus, D., Jostins, L., Spain, S.L., Cortes, A., Bethune, J., Han, B., Park, Y.R., Raychaudhuri, S., Pouget, J.G., Hübenthal, M., et al. Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. Nat. Genet. 48 (2016), 510–518.
-
(2016)
Nat. Genet.
, vol.48
, pp. 510-518
-
-
Ellinghaus, D.1
Jostins, L.2
Spain, S.L.3
Cortes, A.4
Bethune, J.5
Han, B.6
Park, Y.R.7
Raychaudhuri, S.8
Pouget, J.G.9
Hübenthal, M.10
-
25
-
-
84944245664
-
Genetic sharing and heritability of paediatric age of onset autoimmune diseases
-
Li, Y.R., Zhao, S.D., Li, J., Bradfield, J.P., Mohebnasab, M., Steel, L., Kobie, J., Abrams, D.J., Mentch, F.D., Glessner, J.T., et al. Genetic sharing and heritability of paediatric age of onset autoimmune diseases. Nat. Commun., 6, 2015, 8442.
-
(2015)
Nat. Commun.
, vol.6
, pp. 8442
-
-
Li, Y.R.1
Zhao, S.D.2
Li, J.3
Bradfield, J.P.4
Mohebnasab, M.5
Steel, L.6
Kobie, J.7
Abrams, D.J.8
Mentch, F.D.9
Glessner, J.T.10
-
26
-
-
84883465830
-
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
-
Cross-Disorder Group of the Psychiatric Genomics Consortium. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat. Genet. 45 (2013), 984–994.
-
(2013)
Nat. Genet.
, vol.45
, pp. 984-994
-
-
-
27
-
-
84976604384
-
A plethora of pleiotropy across complex traits
-
Visscher, P.M., Yang, J., A plethora of pleiotropy across complex traits. Nat. Genet. 48 (2016), 707–708.
-
(2016)
Nat. Genet.
, vol.48
, pp. 707-708
-
-
Visscher, P.M.1
Yang, J.2
-
28
-
-
31744440502
-
A unified mixed-model method for association mapping that accounts for multiple levels of relatedness
-
Yu, J., Pressoir, G., Briggs, W.H., Vroh Bi, I., Yamasaki, M., Doebley, J.F., McMullen, M.D., Gaut, B.S., Nielsen, D.M., Holland, J.B., et al. A unified mixed-model method for association mapping that accounts for multiple levels of relatedness. Nat. Genet. 38 (2006), 203–208.
-
(2006)
Nat. Genet.
, vol.38
, pp. 203-208
-
-
Yu, J.1
Pressoir, G.2
Briggs, W.H.3
Vroh Bi, I.4
Yamasaki, M.5
Doebley, J.F.6
McMullen, M.D.7
Gaut, B.S.8
Nielsen, D.M.9
Holland, J.B.10
-
29
-
-
77950301214
-
Variance component model to account for sample structure in genome-wide association studies
-
Kang, H.M., Sul, J.H., Service, S.K., Zaitlen, N.A., Kong, S.Y., Freimer, N.B., Sabatti, C., Eskin, E., Variance component model to account for sample structure in genome-wide association studies. Nat. Genet. 42 (2010), 348–354.
-
(2010)
Nat. Genet.
, vol.42
, pp. 348-354
-
-
Kang, H.M.1
Sul, J.H.2
Service, S.K.3
Zaitlen, N.A.4
Kong, S.Y.5
Freimer, N.B.6
Sabatti, C.7
Eskin, E.8
-
30
-
-
80053372166
-
FaST linear mixed models for genome-wide association studies
-
Lippert, C., Listgarten, J., Liu, Y., Kadie, C.M., Davidson, R.I., Heckerman, D., FaST linear mixed models for genome-wide association studies. Nat. Methods 8 (2011), 833–835.
-
(2011)
Nat. Methods
, vol.8
, pp. 833-835
-
-
Lippert, C.1
Listgarten, J.2
Liu, Y.3
Kadie, C.M.4
Davidson, R.I.5
Heckerman, D.6
-
31
-
-
84863003734
-
Genome-wide efficient mixed-model analysis for association studies
-
Zhou, X., Stephens, M., Genome-wide efficient mixed-model analysis for association studies. Nat. Genet. 44 (2012), 821–824.
-
(2012)
Nat. Genet.
, vol.44
, pp. 821-824
-
-
Zhou, X.1
Stephens, M.2
-
32
-
-
84866946205
-
Rapid variance components-based method for whole-genome association analysis
-
Svishcheva, G.R., Axenovich, T.I., Belonogova, N.M., van Duijn, C.M., Aulchenko, Y.S., Rapid variance components-based method for whole-genome association analysis. Nat. Genet. 44 (2012), 1166–1170.
-
(2012)
Nat. Genet.
, vol.44
, pp. 1166-1170
-
-
Svishcheva, G.R.1
Axenovich, T.I.2
Belonogova, N.M.3
van Duijn, C.M.4
Aulchenko, Y.S.5
-
33
-
-
84895801913
-
Advantages and pitfalls in the application of mixed-model association methods
-
Yang, J., Zaitlen, N.A., Goddard, M.E., Visscher, P.M., Price, A.L., Advantages and pitfalls in the application of mixed-model association methods. Nat. Genet. 46 (2014), 100–106.
-
(2014)
Nat. Genet.
, vol.46
, pp. 100-106
-
-
Yang, J.1
Zaitlen, N.A.2
Goddard, M.E.3
Visscher, P.M.4
Price, A.L.5
-
34
-
-
84924060689
-
Efficient Bayesian mixed-model analysis increases association power in large cohorts
-
Loh, P.R., Tucker, G., Bulik-Sullivan, B.K., Vilhjálmsson, B.J., Finucane, H.K., Salem, R.M., Chasman, D.I., Ridker, P.M., Neale, B.M., Berger, B., et al. Efficient Bayesian mixed-model analysis increases association power in large cohorts. Nat. Genet. 47 (2015), 284–290.
-
(2015)
Nat. Genet.
, vol.47
, pp. 284-290
-
-
Loh, P.R.1
Tucker, G.2
Bulik-Sullivan, B.K.3
Vilhjálmsson, B.J.4
Finucane, H.K.5
Salem, R.M.6
Chasman, D.I.7
Ridker, P.M.8
Neale, B.M.9
Berger, B.10
-
35
-
-
77955064853
-
A versatile gene-based test for genome-wide association studies
-
Liu, J.Z., McRae, A.F., Nyholt, D.R., Medland, S.E., Wray, N.R., Brown, K.M., Hayward, N.K., Montgomery, G.W., Visscher, P.M., Martin, N.G., Macgregor, S., AMFS Investigators. A versatile gene-based test for genome-wide association studies. Am. J. Hum. Genet. 87 (2010), 139–145.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 139-145
-
-
Liu, J.Z.1
McRae, A.F.2
Nyholt, D.R.3
Medland, S.E.4
Wray, N.R.5
Brown, K.M.6
Hayward, N.K.7
Montgomery, G.W.8
Visscher, P.M.9
Martin, N.G.10
Macgregor, S.11
-
36
-
-
79952467494
-
GATES: a rapid and powerful gene-based association test using extended Simes procedure
-
Li, M.X., Gui, H.S., Kwan, J.S., Sham, P.C., GATES: a rapid and powerful gene-based association test using extended Simes procedure. Am. J. Hum. Genet. 88 (2011), 283–293.
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 283-293
-
-
Li, M.X.1
Gui, H.S.2
Kwan, J.S.3
Sham, P.C.4
-
37
-
-
84862832570
-
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits
-
S1–S3
-
Yang, J., Ferreira, T., Morris, A.P., Medland, S.E. Genetic Investigation of ANthropometric Traits (GIANT) Consortium DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Madden, P.A., Heath, A.C., Martin, N.G., Montgomery, G.W., et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat. Genet. 44 (2012), 369–375 S1–S3.
-
(2012)
Nat. Genet.
, vol.44
, pp. 369-375
-
-
Yang, J.1
Ferreira, T.2
Morris, A.P.3
Medland, S.E.4
Madden, P.A.5
Heath, A.C.6
Martin, N.G.7
Montgomery, G.W.8
-
38
-
-
85000443086
-
Partitioning heritability by functional annotation using genome-wide association summary statistics
-
Finucane, H.K., Bulik-Sullivan, B., Gusev, A., Trynka, G., Reshef, Y., Loh, P.R., Anttila, V., Xu, H., Zang, C., Farh, K., et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat. Genet. 47 (2015), 1228–1235.
-
(2015)
Nat. Genet.
, vol.47
, pp. 1228-1235
-
-
Finucane, H.K.1
Bulik-Sullivan, B.2
Gusev, A.3
Trynka, G.4
Reshef, Y.5
Loh, P.R.6
Anttila, V.7
Xu, H.8
Zang, C.9
Farh, K.10
-
39
-
-
77954140531
-
Common SNPs explain a large proportion of the heritability for human height
-
Yang, J., Benyamin, B., McEvoy, B.P., Gordon, S., Henders, A.K., Nyholt, D.R., Madden, P.A., Heath, A.C., Martin, N.G., Montgomery, G.W., et al. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet. 42 (2010), 565–569.
-
(2010)
Nat. Genet.
, vol.42
, pp. 565-569
-
-
Yang, J.1
Benyamin, B.2
McEvoy, B.P.3
Gordon, S.4
Henders, A.K.5
Nyholt, D.R.6
Madden, P.A.7
Heath, A.C.8
Martin, N.G.9
Montgomery, G.W.10
-
40
-
-
84936755918
-
Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression
-
Bowden, J., Davey Smith, G., Burgess, S., Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression. Int. J. Epidemiol. 44 (2015), 512–525.
-
(2015)
Int. J. Epidemiol.
, vol.44
, pp. 512-525
-
-
Bowden, J.1
Davey Smith, G.2
Burgess, S.3
-
41
-
-
84885840876
-
Mendelian randomization analysis with multiple genetic variants using summarized data
-
Burgess, S., Butterworth, A., Thompson, S.G., Mendelian randomization analysis with multiple genetic variants using summarized data. Genet. Epidemiol. 37 (2013), 658–665.
-
(2013)
Genet. Epidemiol.
, vol.37
, pp. 658-665
-
-
Burgess, S.1
Butterworth, A.2
Thompson, S.G.3
-
42
-
-
0037322022
-
‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease?
-
Smith, G.D., Ebrahim, S., ‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease?. Int. J. Epidemiol. 32 (2003), 1–22.
-
(2003)
Int. J. Epidemiol.
, vol.32
, pp. 1-22
-
-
Smith, G.D.1
Ebrahim, S.2
-
43
-
-
84878802935
-
Imputing amino acid polymorphisms in human leukocyte antigens
-
Jia, X., Han, B., Onengut-Gumuscu, S., Chen, W.M., Concannon, P.J., Rich, S.S., Raychaudhuri, S., de Bakker, P.I., Imputing amino acid polymorphisms in human leukocyte antigens. PLoS ONE, 8, 2013, e64683.
-
(2013)
PLoS ONE
, vol.8
, pp. e64683
-
-
Jia, X.1
Han, B.2
Onengut-Gumuscu, S.3
Chen, W.M.4
Concannon, P.J.5
Rich, S.S.6
Raychaudhuri, S.7
de Bakker, P.I.8
-
44
-
-
84864417548
-
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
-
Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., Abecasis, G.R., Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat. Genet. 44 (2012), 955–959.
-
(2012)
Nat. Genet.
, vol.44
, pp. 955-959
-
-
Howie, B.1
Fuchsberger, C.2
Stephens, M.3
Marchini, J.4
Abecasis, G.R.5
-
45
-
-
84941702459
-
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
-
Huang, J., Howie, B., McCarthy, S., Memari, Y., Walter, K., Min, J.L., Danecek, P., Malerba, G., Trabetti, E., Zheng, H.F., et al. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nat. Commun., 6, 2015, 8111.
-
(2015)
Nat. Commun.
, vol.6
, pp. 8111
-
-
Huang, J.1
Howie, B.2
McCarthy, S.3
Memari, Y.4
Walter, K.5
Min, J.L.6
Danecek, P.7
Malerba, G.8
Trabetti, E.9
Zheng, H.F.10
-
46
-
-
84954234248
-
Genotype Imputation with Millions of Reference Samples
-
Browning, B.L., Browning, S.R., Genotype Imputation with Millions of Reference Samples. Am. J. Hum. Genet. 98 (2016), 116–126.
-
(2016)
Am. J. Hum. Genet.
, vol.98
, pp. 116-126
-
-
Browning, B.L.1
Browning, S.R.2
-
47
-
-
40849097776
-
Heritability in the genomics era–concepts and misconceptions
-
Visscher, P.M., Hill, W.G., Wray, N.R., Heritability in the genomics era–concepts and misconceptions. Nat. Rev. Genet. 9 (2008), 255–266.
-
(2008)
Nat. Rev. Genet.
, vol.9
, pp. 255-266
-
-
Visscher, P.M.1
Hill, W.G.2
Wray, N.R.3
-
48
-
-
84876005249
-
Ubiquitous polygenicity of human complex traits: genome-wide analysis of 49 traits in Koreans
-
Yang, J., Lee, T., Kim, J., Cho, M.C., Han, B.G., Lee, J.Y., Lee, H.J., Cho, S., Kim, H., Ubiquitous polygenicity of human complex traits: genome-wide analysis of 49 traits in Koreans. PLoS Genet., 9, 2013, e1003355.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003355
-
-
Yang, J.1
Lee, T.2
Kim, J.3
Cho, M.C.4
Han, B.G.5
Lee, J.Y.6
Lee, H.J.7
Cho, S.8
Kim, H.9
-
49
-
-
84944358132
-
Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index
-
Yang, J., Bakshi, A., Zhu, Z., Hemani, G., Vinkhuyzen, A.A., Lee, S.H., Robinson, M.R., Perry, J.R., Nolte, I.M., van Vliet-Ostaptchouk, J.V., et al. Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index. Nat. Genet. 47 (2015), 1114–1120.
-
(2015)
Nat. Genet.
, vol.47
, pp. 1114-1120
-
-
Yang, J.1
Bakshi, A.2
Zhu, Z.3
Hemani, G.4
Vinkhuyzen, A.A.5
Lee, S.H.6
Robinson, M.R.7
Perry, J.R.8
Nolte, I.M.9
van Vliet-Ostaptchouk, J.V.10
-
50
-
-
84930339072
-
Simultaneous discovery, estimation and prediction analysis of complex traits using a bayesian mixture model
-
Moser, G., Lee, S.H., Hayes, B.J., Goddard, M.E., Wray, N.R., Visscher, P.M., Simultaneous discovery, estimation and prediction analysis of complex traits using a bayesian mixture model. PLoS Genet., 11, 2015, e1004969.
-
(2015)
PLoS Genet.
, vol.11
, pp. e1004969
-
-
Moser, G.1
Lee, S.H.2
Hayes, B.J.3
Goddard, M.E.4
Wray, N.R.5
Visscher, P.M.6
-
51
-
-
84979596905
-
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
-
van Rheenen, W., Shatunov, A., Dekker, A.M., McLaughlin, R.L., Diekstra, F.P., Pulit, S.L., van der Spek, R.A., Võsa, U., de Jong, S., Robinson, M.R., et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat. Genet. 48 (2016), 1043–1048.
-
(2016)
Nat. Genet.
, vol.48
, pp. 1043-1048
-
-
van Rheenen, W.1
Shatunov, A.2
Dekker, A.M.3
McLaughlin, R.L.4
Diekstra, F.P.5
Pulit, S.L.6
van der Spek, R.A.7
Võsa, U.8
de Jong, S.9
Robinson, M.R.10
-
52
-
-
84885020424
-
Genome-wide association analysis identifies 13 new risk loci for schizophrenia
-
Ripke, S., O'Dushlaine, C., Chambert, K., Moran, J.L., Kähler, A.K., Akterin, S., Bergen, S.E., Collins, A.L., Crowley, J.J., Fromer, M., et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat. Genet. 45 (2013), 1150–1159.
-
(2013)
Nat. Genet.
, vol.45
, pp. 1150-1159
-
-
Ripke, S.1
O'Dushlaine, C.2
Chambert, K.3
Moran, J.L.4
Kähler, A.K.5
Akterin, S.6
Bergen, S.E.7
Collins, A.L.8
Crowley, J.J.9
Fromer, M.10
-
53
-
-
85000643907
-
Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis
-
Loh, P.R., Bhatia, G., Gusev, A., Finucane, H.K., Bulik-Sullivan, B.K., Pollack, S.J. Schizophrenia Working Group of Psychiatric Genomics Consortium, de Candia, T.R., Lee, S.H., Wray, N.R., et al. Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis. Nat. Genet. 47 (2015), 1385–1392.
-
(2015)
Nat. Genet.
, vol.47
, pp. 1385-1392
-
-
Loh, P.R.1
Bhatia, G.2
Gusev, A.3
Finucane, H.K.4
Bulik-Sullivan, B.K.5
Pollack, S.J.6
de Candia, T.R.7
Lee, S.H.8
Wray, N.R.9
-
54
-
-
84930216606
-
Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1
-
Cortes, A., Pulit, S.L., Leo, P.J., Pointon, J.J., Robinson, P.C., Weisman, M.H., Ward, M., Gensler, L.S., Zhou, X., Garchon, H.J., et al. Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1. Nat. Commun., 6, 2015, 7146.
-
(2015)
Nat. Commun.
, vol.6
, pp. 7146
-
-
Cortes, A.1
Pulit, S.L.2
Leo, P.J.3
Pointon, J.J.4
Robinson, P.C.5
Weisman, M.H.6
Ward, M.7
Gensler, L.S.8
Zhou, X.9
Garchon, H.J.10
-
55
-
-
69449102525
-
Harnessing the information contained within genome-wide association studies to improve individual prediction of complex disease risk
-
Evans, D.M., Visscher, P.M., Wray, N.R., Harnessing the information contained within genome-wide association studies to improve individual prediction of complex disease risk. Hum. Mol. Genet. 18 (2009), 3525–3531.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3525-3531
-
-
Evans, D.M.1
Visscher, P.M.2
Wray, N.R.3
-
56
-
-
84940780615
-
A gene-based association method for mapping traits using reference transcriptome data
-
Gamazon, E.R., Wheeler, H.E., Shah, K.P., Mozaffari, S.V., Aquino-Michaels, K., Carroll, R.J., Eyler, A.E., Denny, J.C. GTEx Consortium, Nicolae, D.L., et al. A gene-based association method for mapping traits using reference transcriptome data. Nat. Genet. 47 (2015), 1091–1098.
-
(2015)
Nat. Genet.
, vol.47
, pp. 1091-1098
-
-
Gamazon, E.R.1
Wheeler, H.E.2
Shah, K.P.3
Mozaffari, S.V.4
Aquino-Michaels, K.5
Carroll, R.J.6
Eyler, A.E.7
Denny, J.C.8
Nicolae, D.L.9
-
57
-
-
84887297875
-
Mining the human phenome using allelic scores that index biological intermediates
-
Evans, D.M., Brion, M.J., Paternoster, L., Kemp, J.P., McMahon, G., Munafò, M., Whitfield, J.B., Medland, S.E., Montgomery, G.W., GIANT Consortium, et al. Mining the human phenome using allelic scores that index biological intermediates. PLoS Genet., 9, 2013, e1003919.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003919
-
-
Evans, D.M.1
Brion, M.J.2
Paternoster, L.3
Kemp, J.P.4
McMahon, G.5
Munafò, M.6
Whitfield, J.B.7
Medland, S.E.8
Montgomery, G.W.9
GIANT Consortium10
-
58
-
-
85018417193
-
Gene-obesogenic environment interactions in the UK Biobank study
-
Tyrrell, J., Wood, A.R., Ames, R.M., Yaghootkar, H., Beaumont, R.N., Jones, S.E., Tuke, M.A., Ruth, K.S., Freathy, R.M., Davey Smith, G., et al. Gene-obesogenic environment interactions in the UK Biobank study. Int. J. Epidemiol. 46 (2017), 559–575.
-
(2017)
Int. J. Epidemiol.
, vol.46
, pp. 559-575
-
-
Tyrrell, J.1
Wood, A.R.2
Ames, R.M.3
Yaghootkar, H.4
Beaumont, R.N.5
Jones, S.E.6
Tuke, M.A.7
Ruth, K.S.8
Freathy, R.M.9
Davey Smith, G.10
-
59
-
-
85028296791
-
LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis
-
Zheng, J., Erzurumluoglu, A.M., Elsworth, B.L., Kemp, J.P., Howe, L., Haycock, P.C., Hemani, G., Tansey, K., Laurin, C., Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium, et al. LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. Bioinformatics 33 (2017), 272–279.
-
(2017)
Bioinformatics
, vol.33
, pp. 272-279
-
-
Zheng, J.1
Erzurumluoglu, A.M.2
Elsworth, B.L.3
Kemp, J.P.4
Howe, L.5
Haycock, P.C.6
Hemani, G.7
Tansey, K.8
Laurin, C.9
Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium10
-
60
-
-
84995494168
-
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation
-
Hoffmann, T.J., Ehret, G.B., Nandakumar, P., Ranatunga, D., Schaefer, C., Kwok, P.Y., Iribarren, C., Chakravarti, A., Risch, N., Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Nat. Genet. 49 (2017), 54–64.
-
(2017)
Nat. Genet.
, vol.49
, pp. 54-64
-
-
Hoffmann, T.J.1
Ehret, G.B.2
Nandakumar, P.3
Ranatunga, D.4
Schaefer, C.5
Kwok, P.Y.6
Iribarren, C.7
Chakravarti, A.8
Risch, N.9
-
61
-
-
84959547986
-
Integrative approaches for large-scale transcriptome-wide association studies
-
Gusev, A., Ko, A., Shi, H., Bhatia, G., Chung, W., Penninx, B.W., Jansen, R., de Geus, E.J., Boomsma, D.I., Wright, F.A., et al. Integrative approaches for large-scale transcriptome-wide association studies. Nat. Genet. 48 (2016), 245–252.
-
(2016)
Nat. Genet.
, vol.48
, pp. 245-252
-
-
Gusev, A.1
Ko, A.2
Shi, H.3
Bhatia, G.4
Chung, W.5
Penninx, B.W.6
Jansen, R.7
de Geus, E.J.8
Boomsma, D.I.9
Wright, F.A.10
-
62
-
-
84961927084
-
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
-
Zhu, Z., Zhang, F., Hu, H., Bakshi, A., Robinson, M.R., Powell, J.E., Montgomery, G.W., Goddard, M.E., Wray, N.R., Visscher, P.M., Yang, J., Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nat. Genet. 48 (2016), 481–487.
-
(2016)
Nat. Genet.
, vol.48
, pp. 481-487
-
-
Zhu, Z.1
Zhang, F.2
Hu, H.3
Bakshi, A.4
Robinson, M.R.5
Powell, J.E.6
Montgomery, G.W.7
Goddard, M.E.8
Wray, N.R.9
Visscher, P.M.10
Yang, J.11
-
63
-
-
84923946495
-
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
-
Bulik-Sullivan, B.K., Loh, P.R., Finucane, H.K., Ripke, S., Yang, J. Schizophrenia Working Group of the Psychiatric Genomics Consortium, Patterson, N., Daly, M.J., Price, A.L., Neale, B.M., LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47 (2015), 291–295.
-
(2015)
Nat. Genet.
, vol.47
, pp. 291-295
-
-
Bulik-Sullivan, B.K.1
Loh, P.R.2
Finucane, H.K.3
Ripke, S.4
Yang, J.5
Patterson, N.6
Daly, M.J.7
Price, A.L.8
Neale, B.M.9
-
64
-
-
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
-
65
-
-
84958074030
-
Schizophrenia risk from complex variation of complement component 4
-
Sekar, A., Bialas, A.R., de Rivera, H., Davis, A., Hammond, T.R., Kamitaki, N., Tooley, K., Presumey, J., Baum, M., Van Doren, V., et al. Schizophrenia risk from complex variation of complement component 4. Nature 530 (2016), 177–183.
-
(2016)
Nature
, vol.530
, pp. 177-183
-
-
Sekar, A.1
Bialas, A.R.2
de Rivera, H.3
Davis, A.4
Hammond, T.R.5
Kamitaki, N.6
Tooley, K.7
Presumey, J.8
Baum, M.9
Van Doren, V.10
-
66
-
-
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
-
67
-
-
84895806401
-
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants
-
Pasquali, L., Gaulton, K.J., Rodríguez-Seguí, S.A., Mularoni, L., Miguel-Escalada, I., Akerman, I., Tena, J.J., Morán, I., Gómez-Marín, C., van de Bunt, M., et al. Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants. Nat. Genet. 46 (2014), 136–143.
-
(2014)
Nat. Genet.
, vol.46
, pp. 136-143
-
-
Pasquali, L.1
Gaulton, K.J.2
Rodríguez-Seguí, S.A.3
Mularoni, L.4
Miguel-Escalada, I.5
Akerman, I.6
Tena, J.J.7
Morán, I.8
Gómez-Marín, C.9
van de Bunt, M.10
-
68
-
-
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
-
-
-
69
-
-
84923362619
-
Integrative analysis of 111 reference human epigenomes
-
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. 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
-
70
-
-
84878682420
-
The Genotype-Tissue Expression (GTEx) project
-
GTEx Consortium. The Genotype-Tissue Expression (GTEx) project. Nat. Genet. 45 (2013), 580–585.
-
(2013)
Nat. Genet.
, vol.45
, pp. 580-585
-
-
-
71
-
-
84993993658
-
Chromosome conformation elucidates regulatory relationships in developing human brain
-
Won, H., de la Torre-Ubieta, L., Stein, J.L., Parikshak, N.N., Huang, J., Opland, C.K., Gandal, M.J., Sutton, G.J., Hormozdiari, F., Lu, D., et al. Chromosome conformation elucidates regulatory relationships in developing human brain. Nature 538 (2016), 523–527.
-
(2016)
Nature
, vol.538
, pp. 523-527
-
-
Won, H.1
de la Torre-Ubieta, L.2
Stein, J.L.3
Parikshak, N.N.4
Huang, J.5
Opland, C.K.6
Gandal, M.J.7
Sutton, G.J.8
Hormozdiari, F.9
Lu, D.10
-
72
-
-
84938292742
-
The support of human genetic evidence for approved drug indications
-
Nelson, M.R., Tipney, H., Painter, J.L., Shen, J., Nicoletti, P., Shen, Y., Floratos, A., Sham, P.C., Li, M.J., Wang, J., et al. The support of human genetic evidence for approved drug indications. Nat. Genet. 47 (2015), 856–860.
-
(2015)
Nat. Genet.
, vol.47
, pp. 856-860
-
-
Nelson, M.R.1
Tipney, H.2
Painter, J.L.3
Shen, J.4
Nicoletti, P.5
Shen, Y.6
Floratos, A.7
Sham, P.C.8
Li, M.J.9
Wang, J.10
-
73
-
-
84890145303
-
Maturity onset diabetes of the young: identification and diagnosis
-
McDonald, T.J., Ellard, S., Maturity onset diabetes of the young: identification and diagnosis. Ann. Clin. Biochem. 50 (2013), 403–415.
-
(2013)
Ann. Clin. Biochem.
, vol.50
, pp. 403-415
-
-
McDonald, T.J.1
Ellard, S.2
-
74
-
-
84978128486
-
The genetic architecture of type 2 diabetes
-
Fuchsberger, C., Flannick, J., Teslovich, T.M., Mahajan, A., Agarwala, V., Gaulton, K.J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D.J., et al. The genetic architecture of type 2 diabetes. Nature 536 (2016), 41–47.
-
(2016)
Nature
, vol.536
, pp. 41-47
-
-
Fuchsberger, C.1
Flannick, J.2
Teslovich, T.M.3
Mahajan, A.4
Agarwala, V.5
Gaulton, K.J.6
Ma, C.7
Fontanillas, P.8
Moutsianas, L.9
McCarthy, D.J.10
-
75
-
-
84895868553
-
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
-
DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium South Asian Type 2 Diabetes (SAT2D) Consortium Mexican American Type 2 Diabetes (MAT2D) Consortium Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium, Mahajan, A., Go, M.J., Zhang, W., Below, J.E., Gaulton, K.J., et al. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat. Genet. 46 (2014), 234–244.
-
(2014)
Nat. Genet.
, vol.46
, pp. 234-244
-
-
Mahajan, A.1
Go, M.J.2
Zhang, W.3
Below, J.E.4
Gaulton, K.J.5
-
76
-
-
84868337361
-
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
-
Morris, A.P., Voight, B.F., Teslovich, T.M., Ferreira, T., Segrè, A.V., Steinthorsdottir, V., Strawbridge, R.J., Khan, H., Grallert, H., Mahajan, A., et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat. Genet. 44 (2012), 981–990.
-
(2012)
Nat. Genet.
, vol.44
, pp. 981-990
-
-
Morris, A.P.1
Voight, B.F.2
Teslovich, T.M.3
Ferreira, T.4
Segrè, A.V.5
Steinthorsdottir, V.6
Strawbridge, R.J.7
Khan, H.8
Grallert, H.9
Mahajan, A.10
-
77
-
-
84895858002
-
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
-
Steinthorsdottir, V., Thorleifsson, G., Sulem, P., Helgason, H., Grarup, N., Sigurdsson, A., Helgadottir, H.T., Johannsdottir, H., Magnusson, O.T., Gudjonsson, S.A., et al. Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. Nat. Genet. 46 (2014), 294–298.
-
(2014)
Nat. Genet.
, vol.46
, pp. 294-298
-
-
Steinthorsdottir, V.1
Thorleifsson, G.2
Sulem, P.3
Helgason, H.4
Grarup, N.5
Sigurdsson, A.6
Helgadottir, H.T.7
Johannsdottir, H.8
Magnusson, O.T.9
Gudjonsson, S.A.10
-
78
-
-
84893730773
-
Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes
-
Ayub, Q., Moutsianas, L., Chen, Y., Panoutsopoulou, K., Colonna, V., Pagani, L., Prokopenko, I., Ritchie, G.R., Tyler-Smith, C., McCarthy, M.I., et al. Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes. Am. J. Hum. Genet. 94 (2014), 176–185.
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 176-185
-
-
Ayub, Q.1
Moutsianas, L.2
Chen, Y.3
Panoutsopoulou, K.4
Colonna, V.5
Pagani, L.6
Prokopenko, I.7
Ritchie, G.R.8
Tyler-Smith, C.9
McCarthy, M.I.10
-
79
-
-
84991056830
-
Detection of human adaptation during the past 2000 years
-
Field, Y., Boyle, E.A., Telis, N., Gao, Z., Gaulton, K.J., Golan, D., Yengo, L., Rocheleau, G., Froguel, P., McCarthy, M.I., Pritchard, J.K., Detection of human adaptation during the past 2000 years. Science 354 (2016), 760–764.
-
(2016)
Science
, vol.354
, pp. 760-764
-
-
Field, Y.1
Boyle, E.A.2
Telis, N.3
Gao, Z.4
Gaulton, K.J.5
Golan, D.6
Yengo, L.7
Rocheleau, G.8
Froguel, P.9
McCarthy, M.I.10
Pritchard, J.K.11
-
80
-
-
77957370404
-
Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups
-
Waters, K.M., Stram, D.O., Hassanein, M.T., Le Marchand, L., Wilkens, L.R., Maskarinec, G., Monroe, K.R., Kolonel, L.N., Altshuler, D., Henderson, B.E., Haiman, C.A., Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups. PLoS Genet., 6, 2010, e1001078.
-
(2010)
PLoS Genet.
, vol.6
, pp. e1001078
-
-
Waters, K.M.1
Stram, D.O.2
Hassanein, M.T.3
Le Marchand, L.4
Wilkens, L.R.5
Maskarinec, G.6
Monroe, K.R.7
Kolonel, L.N.8
Altshuler, D.9
Henderson, B.E.10
Haiman, C.A.11
-
81
-
-
84906226932
-
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
-
Moltke, I., Grarup, N., Jørgensen, M.E., Bjerregaard, P., Treebak, J.T., Fumagalli, M., Korneliussen, T.S., Andersen, M.A., Nielsen, T.S., Krarup, N.T., et al. A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. Nature 512 (2014), 190–193.
-
(2014)
Nature
, vol.512
, pp. 190-193
-
-
Moltke, I.1
Grarup, N.2
Jørgensen, M.E.3
Bjerregaard, P.4
Treebak, J.T.5
Fumagalli, M.6
Korneliussen, T.S.7
Andersen, M.A.8
Nielsen, T.S.9
Krarup, N.T.10
-
82
-
-
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. 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
-
83
-
-
84976612077
-
The genetic regulatory signature of type 2 diabetes in human skeletal muscle
-
Scott, L.J., Erdos, M.R., Huyghe, J.R., Welch, R.P., Beck, A.T., Wolford, B.N., Chines, P.S., Didion, J.P., Narisu, N., Stringham, H.M., et al. The genetic regulatory signature of type 2 diabetes in human skeletal muscle. Nat. Commun., 7, 2016, 11764.
-
(2016)
Nat. Commun.
, vol.7
, pp. 11764
-
-
Scott, L.J.1
Erdos, M.R.2
Huyghe, J.R.3
Welch, R.P.4
Beck, A.T.5
Wolford, B.N.6
Chines, P.S.7
Didion, J.P.8
Narisu, N.9
Stringham, H.M.10
-
84
-
-
84887072795
-
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants
-
Parker, S.C., Stitzel, M.L., Taylor, D.L., Orozco, J.M., Erdos, M.R., Akiyama, J.A., van Bueren, K.L., Chines, P.S., Narisu, N., NISC Comparative Sequencing Program, et al. Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants. Proc. Natl. Acad. Sci. USA 110 (2013), 17921–17926.
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. 17921-17926
-
-
Parker, S.C.1
Stitzel, M.L.2
Taylor, D.L.3
Orozco, J.M.4
Erdos, M.R.5
Akiyama, J.A.6
van Bueren, K.L.7
Chines, P.S.8
Narisu, N.9
NISC Comparative Sequencing Program10
-
85
-
-
79957607662
-
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
-
Small, K.S., Hedman, A.K., Grundberg, E., Nica, A.C., Thorleifsson, G., Kong, A., Thorsteindottir, U., Shin, S.Y., Richards, H.B., GIANT Consortium, et al. Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes. Nat. Genet. 43 (2011), 561–564.
-
(2011)
Nat. Genet.
, vol.43
, pp. 561-564
-
-
Small, K.S.1
Hedman, A.K.2
Grundberg, E.3
Nica, A.C.4
Thorleifsson, G.5
Kong, A.6
Thorsteindottir, U.7
Shin, S.Y.8
Richards, H.B.9
GIANT Consortium10
-
86
-
-
84948984088
-
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
-
Gaulton, K.J., Ferreira, T., Lee, Y., Raimondo, A., Mägi, R., Reschen, M.E., Mahajan, A., Locke, A., Rayner, N.W., Robertson, N., et al. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nat. Genet. 47 (2015), 1415–1425.
-
(2015)
Nat. Genet.
, vol.47
, pp. 1415-1425
-
-
Gaulton, K.J.1
Ferreira, T.2
Lee, Y.3
Raimondo, A.4
Mägi, R.5
Reschen, M.E.6
Mahajan, A.7
Locke, A.8
Rayner, N.W.9
Robertson, N.10
-
87
-
-
84901298851
-
Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity
-
Dimas, A.S., Lagou, V., Barker, A., Knowles, J.W., Mägi, R., Hivert, M.F., Benazzo, A., Rybin, D., Jackson, A.U., Stringham, H.M., et al. Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity. Diabetes 63 (2014), 2158–2171.
-
(2014)
Diabetes
, vol.63
, pp. 2158-2171
-
-
Dimas, A.S.1
Lagou, V.2
Barker, A.3
Knowles, J.W.4
Mägi, R.5
Hivert, M.F.6
Benazzo, A.7
Rybin, D.8
Jackson, A.U.9
Stringham, H.M.10
-
88
-
-
84953234597
-
Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors
-
van de Bunt, M., Manning Fox, J.E., Dai, X., Barrett, A., Grey, C., Li, L., Bennett, A.J., Johnson, P.R., Rajotte, R.V., Gaulton, K.J., et al. Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors. PLoS Genet., 11, 2015, e1005694.
-
(2015)
PLoS Genet.
, vol.11
, pp. e1005694
-
-
van de Bunt, M.1
Manning Fox, J.E.2
Dai, X.3
Barrett, A.4
Grey, C.5
Li, L.6
Bennett, A.J.7
Johnson, P.R.8
Rajotte, R.V.9
Gaulton, K.J.10
-
89
-
-
75749091912
-
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge
-
Saxena, R., Hivert, M.F., Langenberg, C., Tanaka, T., Pankow, J.S., Vollenweider, P., Lyssenko, V., Bouatia-Naji, N., Dupuis, J., Jackson, A.U., et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat. Genet. 42 (2010), 142–148.
-
(2010)
Nat. Genet.
, vol.42
, pp. 142-148
-
-
Saxena, R.1
Hivert, M.F.2
Langenberg, C.3
Tanaka, T.4
Pankow, J.S.5
Vollenweider, P.6
Lyssenko, V.7
Bouatia-Naji, N.8
Dupuis, J.9
Jackson, A.U.10
-
90
-
-
80053385333
-
Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci
-
Kooner, J.S., Saleheen, D., Sim, X., Sehmi, J., Zhang, W., Frossard, P., Been, L.F., Chia, K.S., Dimas, A.S., Hassanali, N., et al. Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nat. Genet. 43 (2011), 984–989.
-
(2011)
Nat. Genet.
, vol.43
, pp. 984-989
-
-
Kooner, J.S.1
Saleheen, D.2
Sim, X.3
Sehmi, J.4
Zhang, W.5
Frossard, P.6
Been, L.F.7
Chia, K.S.8
Dimas, A.S.9
Hassanali, N.10
-
91
-
-
34547536393
-
Common variants in WFS1 confer risk of type 2 diabetes
-
Sandhu, M.S., Weedon, M.N., Fawcett, K.A., Wasson, J., Debenham, S.L., Daly, A., Lango, H., Frayling, T.M., Neumann, R.J., Sherva, R., et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat. Genet. 39 (2007), 951–953.
-
(2007)
Nat. Genet.
, vol.39
, pp. 951-953
-
-
Sandhu, M.S.1
Weedon, M.N.2
Fawcett, K.A.3
Wasson, J.4
Debenham, S.L.5
Daly, A.6
Lango, H.7
Frayling, T.M.8
Neumann, R.J.9
Sherva, R.10
-
92
-
-
80055085362
-
Functional loss of Cdkal1, a novel tRNA modification enzyme, causes the development of type 2 diabetes
-
Wei, F.Y., Tomizawa, K., Functional loss of Cdkal1, a novel tRNA modification enzyme, causes the development of type 2 diabetes. Endocr. J. 58 (2011), 819–825.
-
(2011)
Endocr. J.
, vol.58
, pp. 819-825
-
-
Wei, F.Y.1
Tomizawa, K.2
-
93
-
-
84897407583
-
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
-
Flannick, J., Thorleifsson, G., Beer, N.L., Jacobs, S.B., Grarup, N., Burtt, N.P., Mahajan, A., Fuchsberger, C., Atzmon, G., Benediktsson, R., et al. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat. Genet. 46 (2014), 357–363.
-
(2014)
Nat. Genet.
, vol.46
, pp. 357-363
-
-
Flannick, J.1
Thorleifsson, G.2
Beer, N.L.3
Jacobs, S.B.4
Grarup, N.5
Burtt, N.P.6
Mahajan, A.7
Fuchsberger, C.8
Atzmon, G.9
Benediktsson, R.10
-
94
-
-
84946509188
-
Using Genetic Variants to Assess the Relationship Between Circulating Lipids and Type 2 Diabetes
-
Fall, T., Xie, W., Poon, W., Yaghootkar, H., Mägi, R. GENESIS Consortium, Knowles, J.W., Lyssenko, V., Weedon, M., Frayling, T.M., Ingelsson, E., Using Genetic Variants to Assess the Relationship Between Circulating Lipids and Type 2 Diabetes. Diabetes 64 (2015), 2676–2684.
-
(2015)
Diabetes
, vol.64
, pp. 2676-2684
-
-
Fall, T.1
Xie, W.2
Poon, W.3
Yaghootkar, H.4
Mägi, R.5
Knowles, J.W.6
Lyssenko, V.7
Weedon, M.8
Frayling, T.M.9
Ingelsson, E.10
-
95
-
-
84991665514
-
Genome-wide associations for birth weight and correlations with adult disease
-
Horikoshi, M., Beaumont, R.N., Day, F.R., Warrington, N.M., Kooijman, M.N., Fernandez-Tajes, J., Feenstra, B., van Zuydam, N.R., Gaulton, K.J., Grarup, N., et al. Genome-wide associations for birth weight and correlations with adult disease. Nature 538 (2016), 248–252.
-
(2016)
Nature
, vol.538
, pp. 248-252
-
-
Horikoshi, M.1
Beaumont, R.N.2
Day, F.R.3
Warrington, N.M.4
Kooijman, M.N.5
Fernandez-Tajes, J.6
Feenstra, B.7
van Zuydam, N.R.8
Gaulton, K.J.9
Grarup, N.10
-
96
-
-
84995776151
-
Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis
-
Lotta, L.A., Sharp, S.J., Burgess, S., Perry, J.R., Stewart, I.D., Willems, S.M., Luan, J., Ardanaz, E., Arriola, L., Balkau, B., et al. Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis. JAMA 316 (2016), 1383–1391.
-
(2016)
JAMA
, vol.316
, pp. 1383-1391
-
-
Lotta, L.A.1
Sharp, S.J.2
Burgess, S.3
Perry, J.R.4
Stewart, I.D.5
Willems, S.M.6
Luan, J.7
Ardanaz, E.8
Arriola, L.9
Balkau, B.10
-
97
-
-
55649116393
-
Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes
-
Rafiq, S., Melzer, D., Weedon, M.N., Lango, H., Saxena, R., Scott, L.J. DIAGRAM Consortium, Palmer, C.N., Morris, A.D., McCarthy, et al. Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. Diabetologia 51 (2008), 2205–2213.
-
(2008)
Diabetologia
, vol.51
, pp. 2205-2213
-
-
Rafiq, S.1
Melzer, D.2
Weedon, M.N.3
Lango, H.4
Saxena, R.5
Scott, L.J.6
Palmer, C.N.7
Morris, A.D.8
McCarthy9
-
98
-
-
84925375185
-
Association between circulating 25-hydroxyvitamin D and incident type 2 diabetes: a mendelian randomisation study
-
Ye, Z., Sharp, S.J., Burgess, S., Scott, R.A., Imamura, F. InterAct Consortium, Langenberg, C., Wareham, N.J., Forouhi, N.G., Association between circulating 25-hydroxyvitamin D and incident type 2 diabetes: a mendelian randomisation study. Lancet Diabetes Endocrinol. 3 (2015), 35–42.
-
(2015)
Lancet Diabetes Endocrinol.
, vol.3
, pp. 35-42
-
-
Ye, Z.1
Sharp, S.J.2
Burgess, S.3
Scott, R.A.4
Imamura, F.5
Langenberg, C.6
Wareham, N.J.7
Forouhi, N.G.8
-
99
-
-
84995459787
-
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance
-
Lotta, L.A., Gulati, P., Day, F.R., Payne, F., Ongen, H., van de Bunt, M., Gaulton, K.J., Eicher, J.D., Sharp, S.J., Luan, J., et al. Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. Nat. Genet. 49 (2017), 17–26.
-
(2017)
Nat. Genet.
, vol.49
, pp. 17-26
-
-
Lotta, L.A.1
Gulati, P.2
Day, F.R.3
Payne, F.4
Ongen, H.5
van de Bunt, M.6
Gaulton, K.J.7
Eicher, J.D.8
Sharp, S.J.9
Luan, J.10
-
100
-
-
79251612707
-
Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes
-
GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group Wellcome Trust Case Control Consortium 2, Zhou, K., Bellenguez, C., Spencer, C.C., Bennett, A.J., Coleman, R.L., Tavendale, R., Hawley, S.A., Donnelly, L.A., et al. Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. Nat. Genet. 43 (2011), 117–120.
-
(2011)
Nat. Genet.
, vol.43
, pp. 117-120
-
-
Zhou, K.1
Bellenguez, C.2
Spencer, C.C.3
Bennett, A.J.4
Coleman, R.L.5
Tavendale, R.6
Hawley, S.A.7
Donnelly, L.A.8
-
101
-
-
84981287483
-
Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin
-
Zhou, K., Yee, S.W., Seiser, E.L., van Leeuwen, N., Tavendale, R., Bennett, A.J., Groves, C.J., Coleman, R.L., van der Heijden, A.A., Beulens, J.W., et al. Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin. Nat. Genet. 48 (2016), 1055–1059.
-
(2016)
Nat. Genet.
, vol.48
, pp. 1055-1059
-
-
Zhou, K.1
Yee, S.W.2
Seiser, E.L.3
van Leeuwen, N.4
Tavendale, R.5
Bennett, A.J.6
Groves, C.J.7
Coleman, R.L.8
van der Heijden, A.A.9
Beulens, J.W.10
-
102
-
-
2342633204
-
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
-
Gloyn, A.L., Pearson, E.R., Antcliff, J.F., Proks, P., Bruining, G.J., Slingerland, A.S., Howard, N., Srinivasan, S., Silva, J.M., Molnes, J., et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N. Engl. J. Med. 350 (2004), 1838–1849.
-
(2004)
N. Engl. J. Med.
, vol.350
, pp. 1838-1849
-
-
Gloyn, A.L.1
Pearson, E.R.2
Antcliff, J.F.3
Proks, P.4
Bruining, G.J.5
Slingerland, A.S.6
Howard, N.7
Srinivasan, S.8
Silva, J.M.9
Molnes, J.10
-
103
-
-
84927173996
-
Branched-chain amino acids in metabolic signalling and insulin resistance
-
Lynch, C.J., Adams, S.H., Branched-chain amino acids in metabolic signalling and insulin resistance. Nat. Rev. Endocrinol. 10 (2014), 723–736.
-
(2014)
Nat. Rev. Endocrinol.
, vol.10
, pp. 723-736
-
-
Lynch, C.J.1
Adams, S.H.2
-
104
-
-
84978081339
-
Human gut microbes impact host serum metabolome and insulin sensitivity
-
Pedersen, H.K., Gudmundsdottir, V., Nielsen, H.B., Hyotylainen, T., Nielsen, T., Jensen, B.A., Forslund, K., Hildebrand, F., Prifti, E., Falony, G., et al. Human gut microbes impact host serum metabolome and insulin sensitivity. Nature 535 (2016), 376–381.
-
(2016)
Nature
, vol.535
, pp. 376-381
-
-
Pedersen, H.K.1
Gudmundsdottir, V.2
Nielsen, H.B.3
Hyotylainen, T.4
Nielsen, T.5
Jensen, B.A.6
Forslund, K.7
Hildebrand, F.8
Prifti, E.9
Falony, G.10
-
105
-
-
79960279940
-
Promise and pitfalls of the Immunochip
-
Cortes, A., Brown, M.A., Promise and pitfalls of the Immunochip. Arthritis Res. Ther., 13, 2011, 101.
-
(2011)
Arthritis Res. Ther.
, vol.13
, pp. 101
-
-
Cortes, A.1
Brown, M.A.2
-
106
-
-
84940771118
-
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations
-
Liu, J.Z., van Sommeren, S., Huang, H., Ng, S.C., Alberts, R., Takahashi, A., Ripke, S., Lee, J.C., Jostins, L., Shah, T., et al. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nat. Genet. 47 (2015), 979–986.
-
(2015)
Nat. Genet.
, vol.47
, pp. 979-986
-
-
Liu, J.Z.1
van Sommeren, S.2
Huang, H.3
Ng, S.C.4
Alberts, R.5
Takahashi, A.6
Ripke, S.7
Lee, J.C.8
Jostins, L.9
Shah, T.10
-
107
-
-
84899756990
-
Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans
-
Jiang, L., Yin, J., Ye, L., Yang, J., Hemani, G., Liu, A.J., Zou, H., He, D., Sun, L., Zeng, X., et al. Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans. Arthritis Rheumatol. 66 (2014), 1121–1132.
-
(2014)
Arthritis Rheumatol.
, vol.66
, pp. 1121-1132
-
-
Jiang, L.1
Yin, J.2
Ye, L.3
Yang, J.4
Hemani, G.5
Liu, A.J.6
Zou, H.7
He, D.8
Sun, L.9
Zeng, X.10
-
108
-
-
84894288992
-
Genetics of rheumatoid arthritis contributes to biology and drug discovery
-
Okada, Y., Wu, D., Trynka, G., Raj, T., Terao, C., Ikari, K., Kochi, Y., Ohmura, K., Suzuki, A., Yoshida, S., et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 506 (2014), 376–381.
-
(2014)
Nature
, vol.506
, pp. 376-381
-
-
Okada, Y.1
Wu, D.2
Trynka, G.3
Raj, T.4
Terao, C.5
Ikari, K.6
Kochi, Y.7
Ohmura, K.8
Suzuki, A.9
Yoshida, S.10
-
109
-
-
84879691837
-
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
-
International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes, A., Hadler, J., Pointon, J.P., Robinson, P.C., Karaderi, T., Leo, P., Cremin, K., Pryce, K., Harris, J., et al. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nat. Genet. 45 (2013), 730–738.
-
(2013)
Nat. Genet.
, vol.45
, pp. 730-738
-
-
Cortes, A.1
Hadler, J.2
Pointon, J.P.3
Robinson, P.C.4
Karaderi, T.5
Leo, P.6
Cremin, K.7
Pryce, K.8
Harris, J.9
-
110
-
-
84865261493
-
TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis
-
Gregory, A.P., Dendrou, C.A., Attfield, K.E., Haghikia, A., Xifara, D.K., Butter, F., Poschmann, G., Kaur, G., Lambert, L., Leach, O.A., et al. TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis. Nature 488 (2012), 508–511.
-
(2012)
Nature
, vol.488
, pp. 508-511
-
-
Gregory, A.P.1
Dendrou, C.A.2
Attfield, K.E.3
Haghikia, A.4
Xifara, D.K.5
Butter, F.6
Poschmann, G.7
Kaur, G.8
Lambert, L.9
Leach, O.A.10
-
111
-
-
0023500817
-
The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis
-
Gregersen, P.K., Silver, J., Winchester, R.J., The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum. 30 (1987), 1205–1213.
-
(1987)
Arthritis Rheum.
, vol.30
, pp. 1205-1213
-
-
Gregersen, P.K.1
Silver, J.2
Winchester, R.J.3
-
112
-
-
84862776511
-
Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis
-
Raychaudhuri, S., Sandor, C., Stahl, E.A., Freudenberg, J., Lee, H.S., Jia, X., Alfredsson, L., Padyukov, L., Klareskog, L., Worthington, J., et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat. Genet. 44 (2012), 291–296.
-
(2012)
Nat. Genet.
, vol.44
, pp. 291-296
-
-
Raychaudhuri, S.1
Sandor, C.2
Stahl, E.A.3
Freudenberg, J.4
Lee, H.S.5
Jia, X.6
Alfredsson, L.7
Padyukov, L.8
Klareskog, L.9
Worthington, J.10
-
113
-
-
84888116736
-
A molecular basis for the association of the HLA-DRB1 locus, citrullination, and rheumatoid arthritis
-
Scally, S.W., Petersen, J., Law, S.C., Dudek, N.L., Nel, H.J., Loh, K.L., Wijeyewickrema, L.C., Eckle, S.B., van Heemst, J., Pike, R.N., et al. A molecular basis for the association of the HLA-DRB1 locus, citrullination, and rheumatoid arthritis. J. Exp. Med. 210 (2013), 2569–2582.
-
(2013)
J. Exp. Med.
, vol.210
, pp. 2569-2582
-
-
Scally, S.W.1
Petersen, J.2
Law, S.C.3
Dudek, N.L.4
Nel, H.J.5
Loh, K.L.6
Wijeyewickrema, L.C.7
Eckle, S.B.8
van Heemst, J.9
Pike, R.N.10
-
114
-
-
84922070460
-
HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants
-
Heap, G.A., Weedon, M.N., Bewshea, C.M., Singh, A., Chen, M., Satchwell, J.B., Vivian, J.P., So, K., Dubois, P.C., Andrews, J.M., et al. HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants. Nat. Genet. 46 (2014), 1131–1134.
-
(2014)
Nat. Genet.
, vol.46
, pp. 1131-1134
-
-
Heap, G.A.1
Weedon, M.N.2
Bewshea, C.M.3
Singh, A.4
Chen, M.5
Satchwell, J.B.6
Vivian, J.P.7
So, K.8
Dubois, P.C.9
Andrews, J.M.10
-
115
-
-
77958072084
-
Effects of AIN457, a fully human antibody to interleukin-17A, on psoriasis, rheumatoid arthritis, and uveitis
-
Hueber, W., Patel, D.D., Dryja, T., Wright, A.M., Koroleva, I., Bruin, G., Antoni, C., Draelos, Z., Gold, M.H., Psoriasis Study Group, et al. Effects of AIN457, a fully human antibody to interleukin-17A, on psoriasis, rheumatoid arthritis, and uveitis. Sci. Transl. Med., 2, 2010, 52ra72.
-
(2010)
Sci. Transl. Med.
, vol.2
, pp. 52ra72
-
-
Hueber, W.1
Patel, D.D.2
Dryja, T.3
Wright, A.M.4
Koroleva, I.5
Bruin, G.6
Antoni, C.7
Draelos, Z.8
Gold, M.H.9
Psoriasis Study Group10
-
116
-
-
84891740105
-
Efficacy and safety of secukinumab, a fully human anti-interleukin-17A monoclonal antibody, in patients with moderate-to-severe psoriatic arthritis: a 24-week, randomised, double-blind, placebo-controlled, phase II proof-of-concept trial
-
McInnes, I.B., Sieper, J., Braun, J., Emery, P., van der Heijde, D., Isaacs, J.D., Dahmen, G., Wollenhaupt, J., Schulze-Koops, H., Kogan, J., et al. Efficacy and safety of secukinumab, a fully human anti-interleukin-17A monoclonal antibody, in patients with moderate-to-severe psoriatic arthritis: a 24-week, randomised, double-blind, placebo-controlled, phase II proof-of-concept trial. Ann. Rheum. Dis. 73 (2014), 349–356.
-
(2014)
Ann. Rheum. Dis.
, vol.73
, pp. 349-356
-
-
McInnes, I.B.1
Sieper, J.2
Braun, J.3
Emery, P.4
van der Heijde, D.5
Isaacs, J.D.6
Dahmen, G.7
Wollenhaupt, J.8
Schulze-Koops, H.9
Kogan, J.10
-
117
-
-
84984977871
-
Secukinumab efficacy in anti-TNF-naive and anti-TNF-experienced subjects with active ankylosing spondylitis: results from the MEASURE 2 Study
-
Sieper, J., Deodhar, A., Marzo-Ortega, H., Aelion, J.A., Blanco, R., Jui-Cheng, T., Andersson, M., Porter, B., Richards, H.B., MEASURE 2 Study Group. Secukinumab efficacy in anti-TNF-naive and anti-TNF-experienced subjects with active ankylosing spondylitis: results from the MEASURE 2 Study. Ann. Rheum. Dis. 76 (2017), 571–592.
-
(2017)
Ann. Rheum. Dis.
, vol.76
, pp. 571-592
-
-
Sieper, J.1
Deodhar, A.2
Marzo-Ortega, H.3
Aelion, J.A.4
Blanco, R.5
Jui-Cheng, T.6
Andersson, M.7
Porter, B.8
Richards, H.B.9
-
118
-
-
84922812662
-
Design, synthesis, and biological evaluation of tetrazole analogs of Cl-amidine as protein arginine deiminase inhibitors
-
Subramanian, V., Knight, J.S., Parelkar, S., Anguish, L., Coonrod, S.A., Kaplan, M.J., Thompson, P.R., Design, synthesis, and biological evaluation of tetrazole analogs of Cl-amidine as protein arginine deiminase inhibitors. J. Med. Chem. 58 (2015), 1337–1344.
-
(2015)
J. Med. Chem.
, vol.58
, pp. 1337-1344
-
-
Subramanian, V.1
Knight, J.S.2
Parelkar, S.3
Anguish, L.4
Coonrod, S.A.5
Kaplan, M.J.6
Thompson, P.R.7
-
119
-
-
84969961343
-
Abrogation of collagen-induced arthritis by a peptidyl arginine deiminase inhibitor is associated with modulation of T cell-mediated immune responses
-
Kawalkowska, J., Quirke, A.M., Ghari, F., Davis, S., Subramanian, V., Thompson, P.R., Williams, R.O., Fischer, R., La Thangue, N.B., Venables, P.J., Abrogation of collagen-induced arthritis by a peptidyl arginine deiminase inhibitor is associated with modulation of T cell-mediated immune responses. Sci. Rep., 6, 2016, 26430.
-
(2016)
Sci. Rep.
, vol.6
, pp. 26430
-
-
Kawalkowska, J.1
Quirke, A.M.2
Ghari, F.3
Davis, S.4
Subramanian, V.5
Thompson, P.R.6
Williams, R.O.7
Fischer, R.8
La Thangue, N.B.9
Venables, P.J.10
-
120
-
-
84927133534
-
Genetic associations and functional characterization of M1 aminopeptidases and immune-mediated diseases
-
Agrawal, N., Brown, M.A., Genetic associations and functional characterization of M1 aminopeptidases and immune-mediated diseases. Genes Immun. 15 (2014), 521–527.
-
(2014)
Genes Immun.
, vol.15
, pp. 521-527
-
-
Agrawal, N.1
Brown, M.A.2
-
121
-
-
84997770295
-
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
-
CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium, Psychosis Endophenotypes International Consortium. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet. 49 (2017), 27–35.
-
(2017)
Nat Genet.
, vol.49
, pp. 27-35
-
-
-
122
-
-
80052269336
-
Increased exonic de novo mutation rate in individuals with schizophrenia
-
Girard, S.L., Gauthier, J., Noreau, A., Xiong, L., Zhou, S., Jouan, L., Dionne-Laporte, A., Spiegelman, D., Henrion, E., Diallo, O., et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat. Genet. 43 (2011), 860–863.
-
(2011)
Nat. Genet.
, vol.43
, pp. 860-863
-
-
Girard, S.L.1
Gauthier, J.2
Noreau, A.3
Xiong, L.4
Zhou, S.5
Jouan, L.6
Dionne-Laporte, A.7
Spiegelman, D.8
Henrion, E.9
Diallo, O.10
-
123
-
-
80052273655
-
Exome sequencing supports a de novo mutational paradigm for schizophrenia
-
Xu, B., Roos, J.L., Dexheimer, P., Boone, B., Plummer, B., Levy, S., Gogos, J.A., Karayiorgou, M., Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat. Genet. 43 (2011), 864–868.
-
(2011)
Nat. Genet.
, vol.43
, pp. 864-868
-
-
Xu, B.1
Roos, J.L.2
Dexheimer, P.3
Boone, B.4
Plummer, B.5
Levy, S.6
Gogos, J.A.7
Karayiorgou, M.8
-
124
-
-
84893919352
-
De novo mutations in schizophrenia implicate synaptic networks
-
Fromer, M., Pocklington, A.J., Kavanagh, D.H., Williams, H.J., Dwyer, S., Gormley, P., Georgieva, L., Rees, E., Palta, P., Ruderfer, D.M., et al. De novo mutations in schizophrenia implicate synaptic networks. Nature 506 (2014), 179–184.
-
(2014)
Nature
, vol.506
, pp. 179-184
-
-
Fromer, M.1
Pocklington, A.J.2
Kavanagh, D.H.3
Williams, H.J.4
Dwyer, S.5
Gormley, P.6
Georgieva, L.7
Rees, E.8
Palta, P.9
Ruderfer, D.M.10
-
125
-
-
84912144889
-
Synaptic, transcriptional and chromatin genes disrupted in autism
-
De Rubeis, S., He, X., Goldberg, A.P., Poultney, C.S., Samocha, K., Cicek, A.E., Kou, Y., Liu, L., Fromer, M., Walker, S., et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515 (2014), 209–215.
-
(2014)
Nature
, vol.515
, pp. 209-215
-
-
De Rubeis, S.1
He, X.2
Goldberg, A.P.3
Poultney, C.S.4
Samocha, K.5
Cicek, A.E.6
Kou, Y.7
Liu, L.8
Fromer, M.9
Walker, S.10
-
126
-
-
84901246368
-
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
-
McCarthy, S.E., Gillis, J., Kramer, M., Lihm, J., Yoon, S., Berstein, Y., Mistry, M., Pavlidis, P., Solomon, R., Ghiban, E., et al. De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. Mol. Psychiatry 19 (2014), 652–658.
-
(2014)
Mol. Psychiatry
, vol.19
, pp. 652-658
-
-
McCarthy, S.E.1
Gillis, J.2
Kramer, M.3
Lihm, J.4
Yoon, S.5
Berstein, Y.6
Mistry, M.7
Pavlidis, P.8
Solomon, R.9
Ghiban, E.10
-
127
-
-
84881664021
-
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
-
Jiang, Y.H., Yuen, R.K., Jin, X., Wang, M., Chen, N., Wu, X., Ju, J., Mei, J., Shi, Y., He, M., et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am. J. Hum. Genet. 93 (2013), 249–263.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 249-263
-
-
Jiang, Y.H.1
Yuen, R.K.2
Jin, X.3
Wang, M.4
Chen, N.5
Wu, X.6
Ju, J.7
Mei, J.8
Shi, Y.9
He, M.10
-
128
-
-
84912101541
-
The contribution of de novo coding mutations to autism spectrum disorder
-
Iossifov, I., O'Roak, B.J., Sanders, S.J., Ronemus, M., Krumm, N., Levy, D., Stessman, H.A., Witherspoon, K.T., Vives, L., Patterson, K.E., et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 515 (2014), 216–221.
-
(2014)
Nature
, vol.515
, pp. 216-221
-
-
Iossifov, I.1
O'Roak, B.J.2
Sanders, S.J.3
Ronemus, M.4
Krumm, N.5
Levy, D.6
Stessman, H.A.7
Witherspoon, K.T.8
Vives, L.9
Patterson, K.E.10
-
129
-
-
84936764234
-
De novo CNVs in bipolar affective disorder and schizophrenia
-
Georgieva, L., Rees, E., Moran, J.L., Chambert, K.D., Milanova, V., Craddock, N., Purcell, S., Sklar, P., McCarroll, S., Holmans, P., et al. De novo CNVs in bipolar affective disorder and schizophrenia. Hum. Mol. Genet. 23 (2014), 6677–6683.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 6677-6683
-
-
Georgieva, L.1
Rees, E.2
Moran, J.L.3
Chambert, K.D.4
Milanova, V.5
Craddock, N.6
Purcell, S.7
Sklar, P.8
McCarroll, S.9
Holmans, P.10
-
130
-
-
84912125156
-
A role for noncoding variation in schizophrenia
-
Roussos, P., Mitchell, A.C., Voloudakis, G., Fullard, J.F., Pothula, V.M., Tsang, J., Stahl, E.A., Georgakopoulos, A., Ruderfer, D.M., Charney, A., et al. A role for noncoding variation in schizophrenia. Cell Rep. 9 (2014), 1417–1429.
-
(2014)
Cell Rep.
, vol.9
, pp. 1417-1429
-
-
Roussos, P.1
Mitchell, A.C.2
Voloudakis, G.3
Fullard, J.F.4
Pothula, V.M.5
Tsang, J.6
Stahl, E.A.7
Georgakopoulos, A.8
Ruderfer, D.M.9
Charney, A.10
-
131
-
-
84922273141
-
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
-
Gusev, A., Lee, S.H., Trynka, G., Finucane, H., Vilhjálmsson, B.J., Xu, H., Zang, C., Ripke, S., Bulik-Sullivan, B., Stahl, E., et al. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am. J. Hum. Genet. 95 (2014), 535–552.
-
(2014)
Am. J. Hum. Genet.
, vol.95
, pp. 535-552
-
-
Gusev, A.1
Lee, S.H.2
Trynka, G.3
Finucane, H.4
Vilhjálmsson, B.J.5
Xu, H.6
Zang, C.7
Ripke, S.8
Bulik-Sullivan, B.9
Stahl, E.10
-
132
-
-
84923077204
-
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
-
Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nat. Neurosci. 18 (2015), 199–209.
-
(2015)
Nat. Neurosci.
, vol.18
, pp. 199-209
-
-
-
133
-
-
84978251051
-
Gene-set analysis based on the pharmacological profiles of drugs to identify repurposing opportunities in schizophrenia
-
de Jong, S., Vidler, L.R., Mokrab, Y., Collier, D.A., Breen, G., Gene-set analysis based on the pharmacological profiles of drugs to identify repurposing opportunities in schizophrenia. J. Psychopharmacol. (Oxford) 30 (2016), 826–830.
-
(2016)
J. Psychopharmacol. (Oxford)
, vol.30
, pp. 826-830
-
-
de Jong, S.1
Vidler, L.R.2
Mokrab, Y.3
Collier, D.A.4
Breen, G.5
-
134
-
-
78651552406
-
DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines
-
Bell, J.T., Pai, A.A., Pickrell, J.K., Gaffney, D.J., Pique-Regi, R., Degner, J.F., Gilad, Y., Pritchard, J.K., DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines. Genome Biol., 12, 2011, R10.
-
(2011)
Genome Biol.
, vol.12
, pp. R10
-
-
Bell, J.T.1
Pai, A.A.2
Pickrell, J.K.3
Gaffney, D.J.4
Pique-Regi, R.5
Degner, J.F.6
Gilad, Y.7
Pritchard, J.K.8
-
135
-
-
84857648463
-
Genome-wide association study identifies multiple loci influencing human serum metabolite levels
-
Kettunen, J., Tukiainen, T., Sarin, A.P., Ortega-Alonso, A., Tikkanen, E., Lyytikäinen, L.P., Kangas, A.J., Soininen, P., Würtz, P., Silander, K., et al. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. Nat. Genet. 44 (2012), 269–276.
-
(2012)
Nat. Genet.
, vol.44
, pp. 269-276
-
-
Kettunen, J.1
Tukiainen, T.2
Sarin, A.P.3
Ortega-Alonso, A.4
Tikkanen, E.5
Lyytikäinen, L.P.6
Kangas, A.J.7
Soininen, P.8
Würtz, P.9
Silander, K.10
-
136
-
-
84928533443
-
Genetic and environmental exposures constrain epigenetic drift over the human life course
-
Shah, S., McRae, A.F., Marioni, R.E., Harris, S.E., Gibson, J., Henders, A.K., Redmond, P., Cox, S.R., Pattie, A., Corley, J., et al. Genetic and environmental exposures constrain epigenetic drift over the human life course. Genome Res. 24 (2014), 1725–1733.
-
(2014)
Genome Res.
, vol.24
, pp. 1725-1733
-
-
Shah, S.1
McRae, A.F.2
Marioni, R.E.3
Harris, S.E.4
Gibson, J.5
Henders, A.K.6
Redmond, P.7
Cox, S.R.8
Pattie, A.9
Corley, J.10
-
137
-
-
84937522502
-
Improving Phenotypic Prediction by Combining Genetic and Epigenetic Associations
-
Shah, S., Bonder, M.J., Marioni, R.E., Zhu, Z., McRae, A.F., Zhernakova, A., Harris, S.E., Liewald, D., Henders, A.K., Mendelson, M.M., et al. Improving Phenotypic Prediction by Combining Genetic and Epigenetic Associations. Am. J. Hum. Genet. 97 (2015), 75–85.
-
(2015)
Am. J. Hum. Genet.
, vol.97
, pp. 75-85
-
-
Shah, S.1
Bonder, M.J.2
Marioni, R.E.3
Zhu, Z.4
McRae, A.F.5
Zhernakova, A.6
Harris, S.E.7
Liewald, D.8
Henders, A.K.9
Mendelson, M.M.10
-
138
-
-
85012918562
-
Rare and low-frequency coding variants alter human adult height
-
Marouli, E., Graff, M., Medina-Gomez, C., Lo, K.S., Wood, A.R., Kjaer, T.R., Fine, R.S., Lu, Y., Schurmann, C., Highland, H.M., et al. Rare and low-frequency coding variants alter human adult height. Nature 542 (2017), 186–190.
-
(2017)
Nature
, vol.542
, pp. 186-190
-
-
Marouli, E.1
Graff, M.2
Medina-Gomez, C.3
Lo, K.S.4
Wood, A.R.5
Kjaer, T.R.6
Fine, R.S.7
Lu, Y.8
Schurmann, C.9
Highland, H.M.10
-
139
-
-
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
-
140
-
-
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
-
141
-
-
84877256755
-
Sherlock: detecting gene-disease associations by matching patterns of expression QTL and GWAS
-
He, X., Fuller, C.K., Song, Y., Meng, Q., Zhang, B., Yang, X., Li, H., Sherlock: detecting gene-disease associations by matching patterns of expression QTL and GWAS. Am. J. Hum. Genet. 92 (2013), 667–680.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 667-680
-
-
He, X.1
Fuller, C.K.2
Song, Y.3
Meng, Q.4
Zhang, B.5
Yang, X.6
Li, H.7
-
142
-
-
84908042860
-
Identifying causal variants at loci with multiple signals of association
-
Hormozdiari, F., Kostem, E., Kang, E.Y., Pasaniuc, B., Eskin, E., Identifying causal variants at loci with multiple signals of association. Genetics 198 (2014), 497–508.
-
(2014)
Genetics
, vol.198
, pp. 497-508
-
-
Hormozdiari, F.1
Kostem, E.2
Kang, E.Y.3
Pasaniuc, B.4
Eskin, E.5
-
143
-
-
82355170584
-
Transethnic meta-analysis of genomewide association studies
-
Morris, A.P., Transethnic meta-analysis of genomewide association studies. Genet. Epidemiol. 35 (2011), 809–822.
-
(2011)
Genet. Epidemiol.
, vol.35
, pp. 809-822
-
-
Morris, A.P.1
-
144
-
-
34547618083
-
Drinking from the fire hose–statistical issues in genomewide association studies
-
Hunter, D.J., Kraft, P., Drinking from the fire hose–statistical issues in genomewide association studies. N. Engl. J. Med. 357 (2007), 436–439.
-
(2007)
N. Engl. J. Med.
, vol.357
, pp. 436-439
-
-
Hunter, D.J.1
Kraft, P.2
-
145
-
-
0029741063
-
The future of genetic studies of complex human diseases
-
Risch, N., Merikangas, K., The future of genetic studies of complex human diseases. Science 273 (1996), 1516–1517.
-
(1996)
Science
, vol.273
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
|