-
1
-
-
0037444350
-
Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHC
-
DOI 10.1093/hmg/12.6.647
-
Ahmad T, Neville M, Marshall SE, Armuzzi A, Mulcahy-Hawes K, Crawshaw J, Sato H, Ling KL, Barnardo M, Goldthorpe S, et al. 2003. Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHC. Hum Mol Genet 12: 647-656. (Pubitemid 36372491)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.6
, pp. 647-656
-
-
Ahmad, T.1
Neville, M.2
Marshall, S.E.3
Armuzzi, A.4
Mulcahy-Hawes, K.5
Crawshaw, J.6
Sato, H.7
Ling, K.-L.8
Barnardo, M.9
Goldthorpe, S.10
Walton, R.11
Bunce, M.12
Jewell, D.P.13
Welsh, K.I.14
-
2
-
-
0037371325
-
HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course
-
DOI 10.1086/367781
-
Barcellos LF, Oksenberg JR, Begovich AB, Martin ER, Schmidt S, Vittinghoff E, Goodin DS, Pelletier D, Lincoln RR, Bucher P, et al. 2003. HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. Am J Hum Genet 72: 710-716. (Pubitemid 36255969)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.3
, pp. 710-716
-
-
Barcellos, L.F.1
Oksenberg, J.R.2
Begovich, A.B.3
Martin, E.R.4
Schmidt, S.5
Vittinghoff, E.6
Goodin, D.S.7
Pelletier, D.8
Lincoln, R.R.9
Bucher, P.10
Swerdlin, A.11
Pericak-Vance, M.A.12
Haines, J.L.13
Hauser, S.L.14
-
3
-
-
19944376457
-
Global identification of human transcribed sequences with genome tiling arrays
-
DOI 10.1126/science.1103388
-
Bertone P, Stolc V, Royce TE, Rozowsky JS, Urban AE, Zhu X, Rinn JL, Tongprasit W, Samanta M, Weissman S, et al. 2004. Global identification of human transcribed sequences with genome tiling arrays. Science 306: 2242-2246. (Pubitemid 40024458)
-
(2004)
Science
, vol.306
, Issue.5705
, pp. 2242-2246
-
-
Bertone, P.1
Stolc, V.2
Royce, T.E.3
Rozowsky, J.S.4
Urban, A.E.5
Zhu, X.6
Rinn, J.L.7
Tongprasit, W.8
Samanta, M.9
Weissman, S.10
Gerstein, M.11
Snyder, M.12
-
4
-
-
46749123555
-
Beyond the increasing complexity of the immunomodulatory HLA-G molecule
-
Carosella ED, Favier B, Rouas-Freiss N, Moreau P, Lemaoult J. 2008. Beyond the increasing complexity of the immunomodulatory HLA-G molecule. Blood 111: 4862-4870.
-
(2008)
Blood
, vol.111
, pp. 4862-4870
-
-
Carosella, E.D.1
Favier, B.2
Rouas-Freiss, N.3
Moreau, P.4
Lemaoult, J.5
-
5
-
-
68949211709
-
Genetics of human gene expression: Mapping DNAvariants that influence gene expression
-
Cheung VG, Spielman RS. 2009. Genetics of human gene expression: mapping DNAvariants that influence gene expression. Nat Rev Genet 10: 595-604.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 595-604
-
-
Cheung, V.G.1
Spielman, R.S.2
-
6
-
-
77955091394
-
Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32
-
Conde L, Halperin E, Akers NK, Brown KM, Smedby KE, Rothman N, Nieters A, Slager SL, Brooks-Wilson A, Agana L, et al. 2010. Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32. Nat Genet 42: 661-664.
-
(2010)
Nat Genet
, vol.42
, pp. 661-664
-
-
Conde, L.1
Halperin, E.2
Akers, N.K.3
Brown, K.M.4
Smedby, K.E.5
Rothman, N.6
Nieters, A.7
Slager, S.L.8
Brooks-Wilson, A.9
Agana, L.10
-
7
-
-
60349092402
-
Mapping complex disease traits with global gene expression
-
Cookson W, Liang L, Abecasis G, Moffatt M, Lathrop M. 2009. Mapping complex disease traits with global gene expression. Nat Rev Genet 10: 184-194.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 184-194
-
-
Cookson, W.1
Liang, L.2
Abecasis, G.3
Moffatt, M.4
Lathrop, M.5
-
8
-
-
0019412551
-
The major histocompatibility complex in man
-
Dausset J. 1981. The major histocompatibility complex in man. Science 213: 1469-1474.
-
(1981)
Science
, vol.213
, pp. 1469-1474
-
-
Dausset, J.1
-
9
-
-
33749137515
-
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC
-
DOI 10.1038/ng1885, PII NG1885
-
de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, Ke X, Monsuur AJ, Whittaker P, Delgado M, et al. 2006. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 38: 1166-1172. (Pubitemid 44470362)
-
(2006)
Nature Genetics
, vol.38
, Issue.10
, pp. 1166-1172
-
-
De Bakker, P.I.W.1
McVean, G.2
Sabeti, P.C.3
Miretti, M.M.4
Green, T.5
Marchini, J.6
Ke, X.7
Monsuur, A.J.8
Whittaker, P.9
Delgado, M.10
Morrison, J.11
Richardson, A.12
Walsh, E.C.13
Gao, X.14
Galver, L.15
Hart, J.16
Hafler, D.A.17
Pericak-Vance, M.18
Todd, J.A.19
Daly, M.J.20
Trowsdale, J.21
Wijmenga, C.22
Vyse, T.J.23
Beck, S.24
Murray, S.S.25
Carrington, M.26
Gregory, S.27
Deloukas, P.28
Rioux, J.D.29
more..
-
10
-
-
0344585056
-
Mobile elements and mammalian genome evolution
-
DOI 10.1016/j.gde.2003.10.013
-
Deininger PL, Moran JV, Batzer MA, Kazazian HH Jr. 2003. Mobile elements and mammalian genome evolution. Curr Opin Genet Dev 13: 651-658. (Pubitemid 37456885)
-
(2003)
Current Opinion in Genetics and Development
, vol.13
, Issue.6
, pp. 651-658
-
-
Deininger, P.L.1
Moran, J.V.2
Batzer, M.A.3
Kazazian Jr., H.H.4
-
11
-
-
34548805282
-
A genome-wide association study of global gene expression
-
DOI 10.1038/ng2109, PII NG2109
-
Dixon AL, Liang L, Moffatt MF, Chen W, Heath S, Wong KC, Taylor J, Burnett E, Gut I, Farrall M, et al. 2007. A genome-wide association study of global gene expression. Nat Genet 39: 1202-1207. (Pubitemid 47482680)
-
(2007)
Nature Genetics
, vol.39
, Issue.10
, pp. 1202-1207
-
-
Dixon, A.L.1
Liang, L.2
Moffatt, M.F.3
Chen, W.4
Heath, S.5
Wong, K.C.C.6
Taylor, J.7
Burnett, E.8
Gut, I.9
Farrall, M.10
Lathrop, G.M.11
Abecasis, G.R.12
Cookson, W.O.C.13
-
12
-
-
41349095280
-
Genetics of gene expression and its effect on disease
-
Emilsson V, Thorleifsson G, Zhang B, Leonardson AS, Zink F, Zhu J, Carlson S, Helgason A,Walters GB, Gunnarsdottir S, et al. 2008. Genetics of gene expression and its effect on disease. Nature 452: 423-428.
-
(2008)
Nature
, vol.452
, pp. 423-428
-
-
Emilsson, V.1
Thorleifsson, G.2
Zhang, B.3
Leonardson, A.S.4
Zink, F.5
Zhu, J.6
Carlson, S.7
Helgason, A.8
Walters, G.B.9
Gunnarsdottir, S.10
-
13
-
-
34250305146
-
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
-
DOI 10.1038/nature05874, PII NATURE05874
-
ENCODE Project Consortium, Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH,Weng Z, Snyder M, Dermitzakis ET, et al. 2007. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447: 799-816. (Pubitemid 46920138)
-
(2007)
Nature
, vol.447
, Issue.7146
, pp. 799-816
-
-
Birney, E.1
Stamatoyannopoulos, J.A.2
Dutta, A.3
Guigo, R.4
Gingeras, T.R.5
Margulies, E.H.6
Weng, Z.7
Snyder, M.8
Dermitzakis, E.T.9
Thurman, R.E.10
Kuehn, M.S.11
Taylor, C.M.12
Neph, S.13
Koch, C.M.14
Asthana, S.15
Malhotra, A.16
Adzhubei, I.17
Greenbaum, J.A.18
Andrews, R.M.19
Flicek, P.20
Boyle, P.J.21
Cao, H.22
Carter, N.P.23
Clelland, G.K.24
Davis, S.25
Day, N.26
Dhami, P.27
Dillon, S.C.28
Dorschner, M.O.29
Fiegler, H.30
Giresi, P.G.31
Goldy, J.32
Hawrylycz, M.33
Haydock, A.34
Humbert, R.35
James, K.D.36
Johnson, B.E.37
Johnson, E.M.38
Frum, T.T.39
Rosenzweig, E.R.40
Karnani, N.41
Lee, K.42
Lefebvre, G.C.43
Navas, P.A.44
Neri, F.45
Parker, S.C.J.46
Sabo, P.J.47
Sandstrom, R.48
Shafer, A.49
Vetrie, D.50
Weaver, M.51
Wilcox, S.52
Yu, M.53
Collins, F.S.54
Dekker, J.55
Lieb, J.D.56
Tullius, T.D.57
Crawford, G.E.58
Sunyaev, S.59
Noble, W.S.60
Dunham, I.61
Denoeud, F.62
Reymond, A.63
Kapranov, P.64
Rozowsky, J.65
Zheng, D.66
Castelo, R.67
Frankish, A.68
Harrow, J.69
Ghosh, S.70
Sandelin, A.71
Hofacker, I.L.72
Baertsch, R.73
Keefe, D.74
Dike, S.75
Cheng, J.76
Hirsch, H.A.77
Sekinger, E.A.78
Lagarde, J.79
Abril, J.F.80
Shahab, A.81
Flamm, C.82
Fried, C.83
Hackermuller, J.84
Hertel, J.85
Lindemeyer, M.86
Missal, K.87
Tanzer, A.88
Washietl, S.89
Korbel, J.90
Emanuelsson, O.91
Pedersen, J.S.92
Holroyd, N.93
Taylor, R.94
Swarbreck, D.95
Matthews, N.96
Dickson, M.C.97
Thomas, D.J.98
Weirauch, M.T.99
more..
-
14
-
-
77950356542
-
An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6
-
Fairfax BP, Vannberg FO, Radhakrishnan J, Hakonarson H, Keating BJ, Hill AV, Knight JC. 2010. An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6. Hum Mol Genet 19: 720-730.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 720-730
-
-
Fairfax, B.P.1
Vannberg, F.O.2
Radhakrishnan, J.3
Hakonarson, H.4
Keating, B.J.5
Hill, A.V.6
Knight, J.C.7
-
15
-
-
77649086970
-
A map of open chromatin in human pancreatic islets
-
Gaulton KJ, Nammo T, Pasquali L, Simon JM, Giresi PG, Fogarty MP, Panhuis TM, Mieczkowski P, Secchi A, Bosco D, et al. 2010. A map of open chromatin in human pancreatic islets. Nat Genet 42: 255-259.
-
(2010)
Nat Genet
, vol.42
, pp. 255-259
-
-
Gaulton, K.J.1
Nammo, T.2
Pasquali, L.3
Simon, J.M.4
Giresi, P.G.5
Fogarty, M.P.6
Panhuis, T.M.7
Mieczkowski, P.8
Secchi, A.9
Bosco, D.10
-
16
-
-
34548151158
-
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus
-
DOI 10.1038/nature06066, PII NATURE06066
-
Giraud M, Taubert R, Vandiedonck C, Ke X, Levi-Strauss M, Pagani F, Baralle FE, Eymard B, Tranchant C, Gajdos P, et al. 2007. An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature 448: 934-937. (Pubitemid 47312776)
-
(2007)
Nature
, vol.448
, Issue.7156
, pp. 934-937
-
-
Giraud, M.1
Taubert, R.2
Vandiedonck, C.3
Ke, X.4
Levi-Strauss, M.5
Pagani, F.6
Baralle, F.E.7
Eymard, B.8
Tranchant, C.9
Gajdos, P.10
Vincent, A.11
Willcox, N.12
Beeson, D.13
Kyewski, B.14
Garchon, H.-J.15
-
17
-
-
37349040105
-
The haplo-spliceo-transcriptome: Common variations in alternative splicing in the human population
-
DOI 10.1016/j.tig.2007.10.004, PII S0168952507003496
-
Graveley BR. 2008. The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population. Trends Genet 24: 5-7. (Pubitemid 350298631)
-
(2008)
Trends in Genetics
, vol.24
, Issue.1
, pp. 5-7
-
-
Graveley, B.R.1
-
18
-
-
77956646167
-
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
-
Hamza TH, Zabetian CP, Tenesa A, Laederach A, Montimurro J, Yearout D, Kay DM, Doheny KF, Paschall J, Pugh E, et al. 2010. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat Genet 42: 781-785.
-
(2010)
Nat Genet
, vol.42
, pp. 781-785
-
-
Hamza, T.H.1
Zabetian, C.P.2
Tenesa, A.3
Laederach, A.4
Montimurro, J.5
Yearout, D.6
Kay, D.M.7
Doheny, K.F.8
Paschall, J.9
Pugh, E.10
-
19
-
-
0032753422
-
Isolation of two novel alternative splicing variants of allograft inflammatory factor-1
-
Hara H, Ohta M, Ohta K, Nishimura M, Obayashi H, Adachi T. 1999. Isolation of two novel alternative splicing variants of allograft inflammatory factor-1. Biol Chem 380: 1333-1336.
-
(1999)
Biol Chem
, vol.380
, pp. 1333-1336
-
-
Hara, H.1
Ohta, M.2
Ohta, K.3
Nishimura, M.4
Obayashi, H.5
Adachi, T.6
-
20
-
-
77956633514
-
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy
-
Hor H, Kutalik Z, Dauvilliers Y, Valsesia A, Lammers GJ, Donjacour CE, Iranzo A, Santamaria J, Peraita Adrados R, Vicario JL, et al. 2010. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet 42: 786-789.
-
(2010)
Nat Genet
, vol.42
, pp. 786-789
-
-
Hor, H.1
Kutalik, Z.2
Dauvilliers, Y.3
Valsesia, A.4
Lammers, G.J.5
Donjacour, C.E.6
Iranzo, A.7
Santamaria, J.8
Peraita Adrados, R.9
Vicario, J.L.10
-
21
-
-
9444295337
-
Gene map of the extended human MHC
-
DOI 10.1038/nrg1489
-
Horton R, Wilming L, Rand V, Lovering RC, Bruford EA, Khodiyar VK, Lush MJ, Povey S, Talbot CC Jr, Wright MW, et al. 2004. Gene map of the extended human MHC. Nat Rev Genet 5: 889-899. (Pubitemid 39564252)
-
(2004)
Nature Reviews Genetics
, vol.5
, Issue.12
, pp. 889-899
-
-
Horton, R.1
Wilming, L.2
Rand, V.3
Lovering, R.C.4
Bruford, E.A.5
Khodiyar, V.K.6
Lush, M.J.7
Povey, S.8
Talbot Jr., C.C.9
Wright, M.W.10
Wain, H.M.11
Trowsdale, J.12
Ziegler, A.13
Beck, S.14
-
22
-
-
38349100266
-
Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project
-
Horton R, Gibson R, Coggill P, Miretti M, Allcock RJ, Almeida J, Forbes S, Gilbert JG, Halls K, Harrow JL, et al. 2008. Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project. Immunogenetics 60: 1-18.
-
(2008)
Immunogenetics
, vol.60
, pp. 1-18
-
-
Horton, R.1
Gibson, R.2
Coggill, P.3
Miretti, M.4
Allcock, R.J.5
Almeida, J.6
Forbes, S.7
Gilbert, J.G.8
Halls, K.9
Harrow, J.L.10
-
23
-
-
0038643496
-
Evidence of at least two type 1 diabetes susceptibility genes in the HLA complex distinct from HLA-DQB1, -DQA1 and -DRB1
-
DOI 10.1038/sj.gene.6363917
-
Johansson S, Lie BA, Todd JA, Pociot F, Nerup J, Cambon-Thomsen A, Kockum I, Akselsen HE, Thorsby E, Undlien DE. 2003. Evidence of at least two type 1 diabetes susceptibility genes in the HLA complex distinct from HLA-DQB1, -DQA1 and -DRB1. Genes Immun 4: 46-53. (Pubitemid 38967574)
-
(2003)
Genes and Immunity
, vol.4
, Issue.1
, pp. 46-53
-
-
Johansson, S.1
Lie, B.A.2
Todd, J.A.3
Pociot, F.4
Nerup, J.5
Cambon-Thomsen, A.6
Kockum, I.7
Akselsen, H.E.8
Thorsby, E.9
Undlien, D.E.10
-
24
-
-
56349155783
-
Concept, design and implementation of a cardiovascular gene-centric 50 K SNP array for large-scale genomic association studies
-
doi: 10.1371/journal.pone.0003583
-
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, et al. 2008. Concept, design and implementation of a cardiovascular gene-centric 50 K SNP array for large-scale genomic association studies. PLoS ONE 3: e3583. doi: 10.1371/journal.pone. 0003583.
-
(2008)
PLoS ONE
, vol.3
-
-
Keating, B.J.1
Tischfield, S.2
Murray, S.S.3
Bhangale, T.4
Price, T.S.5
Glessner, J.T.6
Galver, L.7
Barrett, J.C.8
Grant, S.F.9
Farlow, D.N.10
-
25
-
-
77951120000
-
Alternative splicing and evolution: Diversification, exon definition and function
-
Keren H, Lev-Maor G, Ast G. 2010. Alternative splicing and evolution: diversification, exon definition and function. Nat Rev Genet 11: 345-355.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 345-355
-
-
Keren, H.1
Lev-Maor, G.2
Ast, G.3
-
26
-
-
77954505224
-
DARNED: A DAtabase of RNa EDiting in humans
-
Kiran A, Baranov PV. 2010. DARNED: a DAtabase of RNa EDiting in humans. Bioinformatics 26: 1772-1776.
-
(2010)
Bioinformatics
, vol.26
, pp. 1772-1776
-
-
Kiran, A.1
Baranov, P.V.2
-
27
-
-
1842483836
-
Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1
-
DOI 10.1038/ng1331
-
Knight JC, Keating BJ, Kwiatkowski DP. 2004. Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1. Nat Genet 36: 394-399. (Pubitemid 38437263)
-
(2004)
Nature Genetics
, vol.36
, Issue.4
, pp. 394-399
-
-
Knight, J.C.1
Keating, B.J.2
Kwiatkowski, D.P.3
-
28
-
-
4444303972
-
The genetics of HLA-associated disease
-
DOI 10.1016/j.coi.2004.07.014, PII S0952791504001207
-
Larsen CE, Alper CA. 2004. The genetics of HLA-associated disease. Curr Opin Immunol 16: 660-667. (Pubitemid 39165895)
-
(2004)
Current Opinion in Immunology
, vol.16
, Issue.5
, pp. 660-667
-
-
Larsen, C.E.1
Alper, C.A.2
-
29
-
-
53249098795
-
A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints
-
Li X, Ito M, Zhou F, Youngson N, Zuo X, Leder P, Ferguson-Smith AC. 2008. A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints. Dev Cell 15: 547-557.
-
(2008)
Dev Cell
, vol.15
, pp. 547-557
-
-
Li, X.1
Ito, M.2
Zhou, F.3
Youngson, N.4
Zuo, X.5
Leder, P.6
Ferguson-Smith, A.C.7
-
30
-
-
10244239317
-
Consequences of regulated pre-mRNA splicing in the immune system
-
DOI 10.1038/nri1497
-
Lynch KW. 2004. Consequences of regulated pre-mRNA splicing in the immune system. Nat Rev Immunol 4: 931-940. (Pubitemid 39620068)
-
(2004)
Nature Reviews Immunology
, vol.4
, Issue.12
, pp. 931-940
-
-
Lynch, K.W.1
-
31
-
-
48349092985
-
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
-
Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, et al. 2008. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 40: 949-951.
-
(2008)
Nat Genet
, vol.40
, pp. 949-951
-
-
Mackay, D.J.1
Callaway, J.L.2
Marks, S.M.3
White, H.E.4
Acerini, C.L.5
Boonen, S.E.6
Dayanikli, P.7
Firth, H.V.8
Goodship, J.A.9
Haemers, A.P.10
-
32
-
-
77954407332
-
Genomewide association studies and assessment of the risk of disease
-
Manolio TA. 2010. Genomewide association studies and assessment of the risk of disease. N Engl J Med 363: 166-176.
-
(2010)
N Engl J Med
, vol.363
, pp. 166-176
-
-
Manolio, T.A.1
-
33
-
-
77950458649
-
Transcriptome genetics using second generation sequencing in a Caucasian population
-
Montgomery SB, Sammeth M, Gutierrez-Arcelus M, Lach RP, Ingle C, Nisbett J, Guigo R, Dermitzakis ET. 2010. Transcriptome genetics using second generation sequencing in a Caucasian population. Nature 464: 773-777.
-
(2010)
Nature
, vol.464
, pp. 773-777
-
-
Montgomery, S.B.1
Sammeth, M.2
Gutierrez-Arcelus, M.3
Lach, R.P.4
Ingle, C.5
Nisbett, J.6
Guigo, R.7
Dermitzakis, E.T.8
-
34
-
-
77952367694
-
Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations
-
doi: 10.1371/journal.pgen.1000895
-
Nica AC, Montgomery SB, Dimas AS, Stranger BE, Beazley C, Barroso I, Dermitzakis ET. 2010. Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. PLoS Genet 6: e1000895. doi: 10.1371/journal.pgen.1000895.
-
(2010)
PLoS Genet
, vol.6
-
-
Nica, A.C.1
Montgomery, S.B.2
Dimas, A.S.3
Stranger, B.E.4
Beazley, C.5
Barroso, I.6
Dermitzakis, E.T.7
-
35
-
-
77950460661
-
Understanding mechanisms underlying human gene expression variation with RNA sequencing
-
Pickrell JK, Marioni JC, Pai AA, Degner JF, Engelhardt BE, Nkadori E, Veyrieras JB, Stephens M, Gilad Y, Pritchard JK. 2010. Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 464: 768-772.
-
(2010)
Nature
, vol.464
, pp. 768-772
-
-
Pickrell, J.K.1
Marioni, J.C.2
Pai, A.A.3
Degner, J.F.4
Engelhardt, B.E.5
Nkadori, E.6
Veyrieras, J.B.7
Stephens, M.8
Gilad, Y.9
Pritchard, J.K.10
-
36
-
-
78651481549
-
Transcribed dark matter: Meaning or myth?
-
Ponting CP, Belgard TG. 2010. Transcribed dark matter: meaning or myth? Hum Mol Genet 19: R162-R168.
-
(2010)
Hum Mol Genet
, vol.19
-
-
Ponting, C.P.1
Belgard, T.G.2
-
37
-
-
0032902704
-
The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases
-
Price P, Witt C, Allcock R, Sayer D, Garlepp M, Kok CC, French M, Mallal S, Christiansen F. 1999. The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases. Immunol Rev 167: 257-274. (Pubitemid 29178987)
-
(1999)
Immunological Reviews
, vol.167
, pp. 257-274
-
-
Price, P.1
Witt, C.2
Allcock, R.3
Sayer, D.4
Garlepp, M.5
Kok, C.C.6
French, M.7
Mallal, S.8
Christiansen, F.9
-
38
-
-
73249122274
-
Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases
-
Rioux JD, Goyette P, Vyse TJ, Hammarstrom L, Fernando MM, Green T, De Jager PL, Foisy S,Wang J, de Bakker PI, et al. 2009. Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proc Natl Acad Sci 106: 18680-18685.
-
(2009)
Proc Natl Acad Sci
, vol.106
, pp. 18680-18685
-
-
Rioux, J.D.1
Goyette, P.2
Vyse, T.J.3
Hammarstrom, L.4
Fernando, M.M.5
Green, T.6
De Jager, P.L.7
Foisy, S.8
Wang, J.9
De Bakker, P.I.10
-
39
-
-
33745416080
-
Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays
-
DOI 10.1038/nmeth890, PII N890
-
Sabo PJ, Kuehn MS, Thurman R, Johnson BE, Johnson EM, Cao H, Yu M, Rosenzweig E, Goldy J, Haydock A, et al. 2006. Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays. Nat Methods 3: 511-518. (Pubitemid 43941768)
-
(2006)
Nature Methods
, vol.3
, Issue.7
, pp. 511-518
-
-
Sabo, P.J.1
Kuehn, M.S.2
Thurman, R.3
Johnson, B.E.4
Johnson, E.M.5
Cao, H.6
Yu, M.7
Rosenzweig, E.8
Goldy, J.9
Haydock, A.10
Weaver, M.11
Shafer, A.12
Lee, K.13
Neri, F.14
Humbert, R.15
Singer, M.A.16
Richmond, T.A.17
Dorschner, M.O.18
McArthur, M.19
Hawrylycz, M.20
Green, R.D.21
Navas, P.A.22
Noble, W.S.23
Stamatoyannopoulos, J.A.24
more..
-
40
-
-
10344227722
-
An update of the HLA genomic region, locus information and disease associations: 2004
-
Shiina T, Inoko H, Kulski JK. 2004. An update of the HLA genomic region, locus information and disease associations: 2004. Tissue Antigens 64: 631-649.
-
(2004)
Tissue Antigens
, vol.64
, pp. 631-649
-
-
Shiina, T.1
Inoko, H.2
Kulski, J.K.3
-
41
-
-
77955082302
-
A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury
-
Singer JB, Lewitzky S, Leroy E, Yang F, Zhao X, Klickstein L, Wright TM, Meyer J, Paulding CA. 2010. A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury. Nat Genet 42: 711-714.
-
(2010)
Nat Genet
, vol.42
, pp. 711-714
-
-
Singer, J.B.1
Lewitzky, S.2
Leroy, E.3
Yang, F.4
Zhao, X.5
Klickstein, L.6
Wright, T.M.7
Meyer, J.8
Paulding, C.A.9
-
42
-
-
3042569525
-
Complete MHC haplotype sequencing for common disease gene mapping
-
Stewart CA, Horton R, Allcock RJ, Ashurst JL, Atrazhev AM, Coggill P, Dunham I, Forbes S, Halls K, Howson JM, et al. 2004. Complete MHC haplotype sequencing for common disease gene mapping. Genome Res 14: 1176-1187.
-
(2004)
Genome Res
, vol.14
, pp. 1176-1187
-
-
Stewart, C.A.1
Horton, R.2
Allcock, R.J.3
Ashurst, J.L.4
Atrazhev, A.M.5
Coggill, P.6
Dunham, I.7
Forbes, S.8
Halls, K.9
Howson, J.M.10
-
43
-
-
34548738566
-
Population genomics of human gene expression
-
DOI 10.1038/ng2142, PII NG2142
-
Stranger BE, Nica AC, Forrest MS, Dimas A, Bird CP, Beazley C, Ingle CE, Dunning M, Flicek P, Koller D, et al. 2007. Population genomics of human gene expression. Nat Genet 39: 1217-1224. (Pubitemid 47482691)
-
(2007)
Nature Genetics
, vol.39
, Issue.10
, pp. 1217-1224
-
-
Stranger, B.E.1
Nica, A.C.2
Forrest, M.S.3
Dimas, A.4
Bird, C.P.5
Beazley, C.6
Ingle, C.E.7
Dunning, M.8
Flicek, P.9
Koller, D.10
Montgomery, S.11
Tavare, S.12
Deloukas, P.13
Dermitzakis, E.T.14
-
44
-
-
77955505564
-
Biological, clinical and population relevance of 95 loci for blood lipids
-
Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI,Willer CJ, et al. 2010. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466: 707-713.
-
(2010)
Nature
, vol.466
, pp. 707-713
-
-
Teslovich, T.M.1
Musunuru, K.2
Smith, A.V.3
Edmondson, A.C.4
Stylianou, I.M.5
Koseki, M.6
Pirruccello, J.P.7
Ripatti, S.8
Chasman, D.I.9
Willer, C.J.10
-
45
-
-
70649112117
-
HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C
-
Thomas R, Apps R, Qi Y, Gao X, Male V, O'Huigin C, O'Connor G, Ge D, Fellay J, Martin JN, et al. 2009. HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C. Nat Genet 41: 1290-1294.
-
(2009)
Nat Genet
, vol.41
, pp. 1290-1294
-
-
Thomas, R.1
Apps, R.2
Qi, Y.3
Gao, X.4
Male, V.5
O'Huigin, C.6
O'Connor, G.7
Ge, D.8
Fellay, J.9
Martin, J.N.10
-
46
-
-
33645775299
-
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history
-
doi: 10.1371/journal.pgen.0020009
-
Traherne JA, Horton R, Roberts AN, Miretti MM, Hurles ME, Stewart CA, Ashurst JL, Atrazhev AM, Coggill P, Palmer S, et al. 2006. Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history. PLoS Genet 2: e9. doi: 10.1371/journal.pgen. 0020009.
-
(2006)
PLoS Genet
, vol.2
-
-
Traherne, J.A.1
Horton, R.2
Roberts, A.N.3
Miretti, M.M.4
Hurles, M.E.5
Stewart, C.A.6
Ashurst, J.L.7
Atrazhev, A.M.8
Coggill, P.9
Palmer, S.10
-
47
-
-
0031018819
-
Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus
-
DOI 10.1038/ng0397-289
-
Vafiadis P, Bennett ST, Todd JA, Nadeau J, Grabs R, Goodyer CG, Wickramasinghe S, Colle E, Polychronakos C. 1997. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet 15: 289-292. (Pubitemid 27098725)
-
(1997)
Nature Genetics
, vol.15
, Issue.3
, pp. 289-292
-
-
Vafiadis, P.1
Bennett, S.T.2
Todd, J.A.3
Nadeau, J.4
Grabs, R.5
Goodyer, C.G.6
Wickramasinghe, S.7
Colle, E.8
Polychronakos, C.9
-
48
-
-
20144388906
-
Sarcoidosis is associated with a truncating splice site mutation in BTNL2
-
Valentonyte R, Hampe J, Huse K, Rosenstiel P, Albrecht M, Stenzel A, Nagy M, Gaede KI, Franke A, Haesler R, et al. 2005. Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet 37: 357-364.
-
(2005)
Nat Genet
, vol.37
, pp. 357-364
-
-
Valentonyte, R.1
Hampe, J.2
Huse, K.3
Rosenstiel, P.4
Albrecht, M.5
Stenzel, A.6
Nagy, M.7
Gaede, K.I.8
Franke, A.9
Haesler, R.10
-
49
-
-
77952905505
-
Most "dark matter" transcripts are associated with known genes
-
doi: 10.1371/journal.pbio.1000371
-
van Bakel H, Nislow C, Blencowe BJ, Hughes TR. 2010. Most "dark matter" transcripts are associated with known genes. PLoS Biol 8: e1000371. doi: 10.1371/journal.pbio.1000371.
-
(2010)
PLoS Biol
, vol.8
-
-
Van Bakel, H.1
Nislow, C.2
Blencowe, B.J.3
Hughes, T.R.4
-
50
-
-
70350015386
-
The human Major Histocompatibility Complex as a paradigm in genomics research
-
Vandiedonck C, Knight JC. 2009. The human Major Histocompatibility Complex as a paradigm in genomics research. Brief Funct Genomics Proteomics 8: 379-394.
-
(2009)
Brief Funct Genomics Proteomics
, vol.8
, pp. 379-394
-
-
Vandiedonck, C.1
Knight, J.C.2
-
51
-
-
7444238973
-
Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthemia gravis and thymus hyperplasia
-
DOI 10.1073/pnas.0406756101
-
Vandiedonck C, Beaurain G, Giraud M, Hue-Beauvais C, Eymard B, Tranchant C, Gajdos P, Dausset J, Garchon HJ. 2004. Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia. Proc Natl Acad Sci 101: 15464-15469. (Pubitemid 39441564)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.43
, pp. 15464-15469
-
-
Vandiedonck, C.1
Beaurain, G.2
Giraud, M.3
Hue-Beauvais, C.4
Eymard, B.5
Tranchant, C.6
Gajdos, P.7
Dausset, J.8
Garchon, H.-J.9
-
52
-
-
34548301498
-
SNPs matter: Impact on detection of differential expression [3]
-
DOI 10.1038/nmeth0907-679, PII NMETH0907-679
-
Walter NA, McWeeney SK, Peters ST, Belknap JK, Hitzemann R, Buck KJ. 2007. SNPs matter: impact on detection of differential expression. Nat Methods 4: 679-680. (Pubitemid 47338152)
-
(2007)
Nature Methods
, vol.4
, Issue.9
, pp. 679-680
-
-
Walter, N.A.R.1
McWeeney, S.K.2
Peters, S.T.3
Belknap, J.K.4
Hitzemann, R.5
Buck, K.J.6
-
53
-
-
34548758543
-
Splicing in disease: Disruption of the splicing code and the decoding machinery
-
DOI 10.1038/nrg2164, PII NRG2164
-
Wang GS, Cooper TA. 2007. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet 8: 749-761. (Pubitemid 47429207)
-
(2007)
Nature Reviews Genetics
, vol.8
, Issue.10
, pp. 749-761
-
-
Wang, G.-S.1
Cooper, T.A.2
-
54
-
-
56549101959
-
Alternative isoform regulation in human tissue transcriptomes
-
DOI 10.1038/nature07509, PII NATURE07509
-
Wang ET, Sandberg R, Luo S, Khrebtukova I, Zhang L, Mayr C, Kingsmore SF, Schroth GP, Burge CB. 2008. Alternative isoform regulation in human tissue transcriptomes. Nature 456: 470-476. (Pubitemid 352759009)
-
(2008)
Nature
, vol.456
, Issue.7221
, pp. 470-476
-
-
Wang, E.T.1
Sandberg, R.2
Luo, S.3
Khrebtukova, I.4
Zhang, L.5
Mayr, C.6
Kingsmore, S.F.7
Schroth, G.P.8
Burge, C.B.9
-
55
-
-
57749195712
-
RNA-Seq: A revolutionary tool for transcriptomics
-
Wang Z, Gerstein M, Snyder M. 2009. RNA-Seq: a revolutionary tool for transcriptomics. Nat Rev Genet 10: 57-63.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 57-63
-
-
Wang, Z.1
Gerstein, M.2
Snyder, M.3
-
56
-
-
34047116826
-
Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome
-
DOI 10.1038/ng1990, PII NG1990
-
Weber M, Hellmann I, Stadler MB, Ramos L, Paabo S, Rebhan M, Schubeler D. 2007. Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome. Nat Genet 39: 457-466. (Pubitemid 46514772)
-
(2007)
Nature Genetics
, vol.39
, Issue.4
, pp. 457-466
-
-
Weber, M.1
Hellmann, I.2
Stadler, M.B.3
Ramos, L.4
Paabo, S.5
Rebhan, M.6
Schubeler, D.7
-
57
-
-
84969213492
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
-
Wellcome Trust Case Control Consortium
-
Wellcome Trust Case Control Consortium. 2007. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447: 661-678.
-
(2007)
Nature
, vol.447
, pp. 661-678
-
-
-
58
-
-
0037119584
-
Allelic variation in human gene expression
-
DOI 10.1126/science.1072545
-
Yan H, Yuan W, Velculescu VE, Vogelstein B, Kinzler KW. 2002. Allelic variation in human gene expression. Science 297: 1143. (Pubitemid 36193340)
-
(2002)
Science
, vol.297
, Issue.5584
, pp. 1143
-
-
Yan, H.1
Yuan, W.2
Velculescu, V.E.3
Vogelstein, B.4
Kinzler, K.W.5
-
59
-
-
29144468668
-
Differential expression of alternatively spliced transcripts of HLA-G in human preimplantation embryos and inner cell masses
-
Yao YQ, Barlow DH, Sargent IL. 2005. Differential expression of alternatively spliced transcripts of HLA-G in human preimplantation embryos and inner cell masses. J Immunol 175: 8379-8385. (Pubitemid 41798404)
-
(2005)
Journal of Immunology
, vol.175
, Issue.12
, pp. 8379-8385
-
-
Yao, Y.Q.1
Barlow, D.H.2
Sargent, I.L.3
-
60
-
-
0042165029
-
Inheritable variable sizes of DNA stretches in the human MHC: Conserved extended haplotypes and their fragments or blocks
-
DOI 10.1034/j.1399-0039.2003.00098.x
-
Yunis EJ, Larsen CE, Fernandez-Vina M, Awdeh ZL, Romero T, Hansen JA, Alper CA. 2003. Inheritable variable sizes of DNA stretches in the human MHC: conserved extended haplotypes and their fragments or blocks. Tissue Antigens 62: 1-20. (Pubitemid 36918673)
-
(2003)
Tissue Antigens
, vol.62
, Issue.1
, pp. 1-20
-
-
Yunis, E.J.1
Larsen, C.E.2
Fernandez-Vina, M.3
Awdeh, Z.L.4
Romero, T.5
Hansen, J.A.6
Alper, C.A.7
|