-
1
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Y. Yang, D.M. Muzny, and J.G. Reid et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders N Engl J Med 369 2013 1502 1511
-
(2013)
N Engl J Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
-
2
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
G.R. Abecasis, A. Auton, and L.D. Brooks et al. An integrated map of genetic variation from 1,092 human genomes Nature 491 2012 56 65
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
-
3
-
-
84863845193
-
Genotype imputation with thousands of genomes
-
B. Howie, J. Marchini, and M. Stephens Genotype imputation with thousands of genomes G3 (Bethesda) 1 2011 457 470
-
(2011)
G3 (Bethesda)
, vol.1
, pp. 457-470
-
-
Howie, B.1
Marchini, J.2
Stephens, M.3
-
4
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
B.E. Bernstein, E. Birney, and I. Dunham et al. An integrated encyclopedia of DNA elements in the human genome Nature 489 2012 57 74
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
Bernstein, B.E.1
Birney, E.2
Dunham, I.3
-
5
-
-
84862263248
-
The NIH Roadmap Epigenomics Program data resource
-
L.H. Chadwick The NIH Roadmap Epigenomics Program data resource Epigenomics 4 2012 317 324
-
(2012)
Epigenomics
, vol.4
, pp. 317-324
-
-
Chadwick, L.H.1
-
6
-
-
84865822182
-
Systematic localization of common disease-associated variation in regulatory DNA
-
M.T. Maurano, R. Humbert, and E. Rynes et al. Systematic localization of common disease-associated variation in regulatory DNA Science 337 2012 1190 1195
-
(2012)
Science
, vol.337
, pp. 1190-1195
-
-
Maurano, M.T.1
Humbert, R.2
Rynes, E.3
-
8
-
-
84863030888
-
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions
-
M.J. Ombrello, E.F. Remmers, and G. Sun et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions N Engl J Med 366 2012 330 338
-
(2012)
N Engl J Med
, vol.366
, pp. 330-338
-
-
Ombrello, M.J.1
Remmers, E.F.2
Sun, G.3
-
10
-
-
85029557540
-
Principles and techniques in molecular biology
-
M.C. Hochberg, A.J. Silman, J.S. Smolen, 5th ed. Mosby/Elsevier Philadelphia
-
E.F. Remmers, M.J. Ombrello, and Y. Kanno et al. Principles and techniques in molecular biology M.C. Hochberg, A.J. Silman, J.S. Smolen, Rheumatology 5th ed. 2011 Mosby/Elsevier Philadelphia 105 118
-
(2011)
Rheumatology
, pp. 105-118
-
-
Remmers, E.F.1
Ombrello, M.J.2
Kanno, Y.3
-
11
-
-
72849144434
-
Sequencing technologies - The next generation
-
M.L. Metzker Sequencing technologies - the next generation Nat Rev Genet. 11 2010 31 46
-
(2010)
Nat Rev Genet.
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
12
-
-
53649106195
-
Next-generation DNA sequencing
-
J. Shendure, and H. Ji Next-generation DNA sequencing Nat Biotechnol 26 2008 1135 1145
-
(2008)
Nat Biotechnol
, vol.26
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
13
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
S.B. Ng, E.H. Turner, and P.D. Robertson et al. Targeted capture and massively parallel sequencing of 12 human exomes Nature 461 2009 272 276
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
-
14
-
-
84879411643
-
Sequencing studies in human genetics: Design and interpretation
-
D.B. Goldstein, A. Allen, and J. Keebler et al. Sequencing studies in human genetics: design and interpretation Nat Rev Genet. 14 2013 460 470
-
(2013)
Nat Rev Genet.
, vol.14
, pp. 460-470
-
-
Goldstein, D.B.1
Allen, A.2
Keebler, J.3
-
15
-
-
73349110071
-
Exome sequencing identifies the cause of a Mendelian disorder
-
S.B. Ng, K.J. Buckingham, and C. Lee et al. Exome sequencing identifies the cause of a Mendelian disorder Nat Genet. 42 2010 30 35
-
(2010)
Nat Genet.
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
-
16
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
J.C. Roach, G. Glusman, and A.F. Smit et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing Science 328 2010 636 639
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
-
17
-
-
73349138875
-
Exome sequencing makes medical genomics a reality
-
L.G. Biesecker Exome sequencing makes medical genomics a reality Nat Genet. 42 2010 13 14
-
(2010)
Nat Genet.
, vol.42
, pp. 13-14
-
-
Biesecker, L.G.1
-
18
-
-
84884826911
-
The next-generation sequencing revolution and its impact on genomics
-
D.C. Koboldt, K.M. Steinberg, and D.E. Larson et al. The next-generation sequencing revolution and its impact on genomics Cell 155 2013 27 38
-
(2013)
Cell
, vol.155
, pp. 27-38
-
-
Koboldt, D.C.1
Steinberg, K.M.2
Larson, D.E.3
-
19
-
-
84895461649
-
Early-onset stroke and vasculopathy associated with mutations in ADA2
-
Q. Zhou, D. Yang, and A.K. Ombrello et al. Early-onset stroke and vasculopathy associated with mutations in ADA2 N Engl J Med 2014
-
(2014)
N Engl J Med
-
-
Zhou, Q.1
Yang, D.2
Ombrello, A.K.3
-
20
-
-
84895465707
-
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
-
P.N. Elkan, S.B. Pierce, and R. Segel et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy N Engl J Med 2014
-
(2014)
N Engl J Med
-
-
Elkan, P.N.1
Pierce, S.B.2
Segel, R.3
-
21
-
-
84888986367
-
Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease
-
A. Reiff, A.G. Bassuk, and J.A. Church et al. Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease J Clin Immunol 33 2013 1289 1292
-
(2013)
J Clin Immunol
, vol.33
, pp. 1289-1292
-
-
Reiff, A.1
Bassuk, A.G.2
Church, J.A.3
-
22
-
-
84869429707
-
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
-
B. Boisson, E. Laplantine, and C. Prando et al. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency Nat Immunol 13 2012 1178 1186
-
(2012)
Nat Immunol
, vol.13
, pp. 1178-1186
-
-
Boisson, B.1
Laplantine, E.2
Prando, C.3
-
23
-
-
59649103156
-
Involvement of linear polyubiquitylation of NEMO in NF-kappaB activation
-
F. Tokunaga, S. Sakata, and Y. Saeki et al. Involvement of linear polyubiquitylation of NEMO in NF-kappaB activation Nat Cell Biol. 11 2009 123 132
-
(2009)
Nat Cell Biol.
, vol.11
, pp. 123-132
-
-
Tokunaga, F.1
Sakata, S.2
Saeki, Y.3
-
24
-
-
84867255789
-
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
-
Q. Zhou, G.S. Lee, and J. Brady et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency Am J Hum Genet. 91 2012 713 720
-
(2012)
Am J Hum Genet.
, vol.91
, pp. 713-720
-
-
Zhou, Q.1
Lee, G.S.2
Brady, J.3
-
25
-
-
84859707571
-
Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing
-
K. Izawa, A. Hijikata, and N. Tanaka et al. Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing DNA Res. 19 2012 143 152
-
(2012)
DNA Res.
, vol.19
, pp. 143-152
-
-
Izawa, K.1
Hijikata, A.2
Tanaka, N.3
-
26
-
-
84877629096
-
First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes
-
S. Jimenez-Trevino, E. Gonzalez-Roca, and E. Ruiz-Ortiz et al. First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes Ann Rheum Dis 72 2013 1109 1110
-
(2013)
Ann Rheum Dis
, vol.72
, pp. 1109-1110
-
-
Jimenez-Trevino, S.1
Gonzalez-Roca, E.2
Ruiz-Ortiz, E.3
-
27
-
-
85027907444
-
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
-
K. Nakagawa, E. Gonzalez-Roca, and A. Souto et al. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes Ann Rheum Dis 2013
-
(2013)
Ann Rheum Dis
-
-
Nakagawa, K.1
Gonzalez-Roca, E.2
Souto, A.3
-
28
-
-
84897019916
-
Brief report: Whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome
-
E. Omoyinmi, S. Melo Gomes, and A. Standing et al. Brief report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome Arthritis Rheumatol 66 2014 197 202
-
(2014)
Arthritis Rheumatol
, vol.66
, pp. 197-202
-
-
Omoyinmi, E.1
Melo Gomes, S.2
Standing, A.3
-
29
-
-
84865979581
-
Detection of ultra-rare mutations by next-generation sequencing
-
M.W. Schmitt, S.R. Kennedy, and J.J. Salk et al. Detection of ultra-rare mutations by next-generation sequencing Proc Natl Acad Sci U S A 109 2012 14508 14513
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 14508-14513
-
-
Schmitt, M.W.1
Kennedy, S.R.2
Salk, J.J.3
-
30
-
-
84884419292
-
Emerging patterns of somatic mutations in cancer
-
I.R. Watson, K. Takahashi, and P.A. Futreal et al. Emerging patterns of somatic mutations in cancer Nat Rev Genet. 14 2013 703 718
-
(2013)
Nat Rev Genet.
, vol.14
, pp. 703-718
-
-
Watson, I.R.1
Takahashi, K.2
Futreal, P.A.3
-
31
-
-
84860389181
-
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
-
M.J. Lindhurst, J.C. Sapp, and J.K. Teer et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome N Engl J Med 365 2011 611 619
-
(2011)
N Engl J Med
, vol.365
, pp. 611-619
-
-
Lindhurst, M.J.1
Sapp, J.C.2
Teer, J.K.3
-
32
-
-
84889659729
-
High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing
-
D.I. Lou, J.A. Hussmann, and R.M. McBee et al. High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing Proc Natl Acad Sci U S A 110 2013 19872 19877
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 19872-19877
-
-
Lou, D.I.1
Hussmann, J.A.2
McBee, R.M.3
-
33
-
-
65249131713
-
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
-
S. Nejentsev, N. Walker, and D. Riches et al. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes Science 324 2009 387 389
-
(2009)
Science
, vol.324
, pp. 387-389
-
-
Nejentsev, S.1
Walker, N.2
Riches, D.3
-
34
-
-
84872323563
-
Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis
-
D. Diogo, F. Kurreeman, and E.A. Stahl et al. Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis Am J Hum Genet. 92 2013 15 27
-
(2013)
Am J Hum Genet.
, vol.92
, pp. 15-27
-
-
Diogo, D.1
Kurreeman, F.2
Stahl, E.A.3
-
35
-
-
84877865074
-
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease
-
Y. Kirino, Q. Zhou, and Y. Ishigatsubo et al. Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease Proc Natl Acad Sci U S A 110 2013 8134 8139
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 8134-8139
-
-
Kirino, Y.1
Zhou, Q.2
Ishigatsubo, Y.3
-
36
-
-
77954407332
-
Genomewide association studies and assessment of the risk of disease
-
T.A. Manolio Genomewide association studies and assessment of the risk of disease N Engl J Med 363 2010 166 176
-
(2010)
N Engl J Med
, vol.363
, pp. 166-176
-
-
Manolio, T.A.1
-
37
-
-
67651222400
-
A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
-
B.N. Howie, P. Donnelly, and J. Marchini A flexible and accurate genotype imputation method for the next generation of genome-wide association studies PLoS Genet 5 2009 e1000529
-
(2009)
PLoS Genet
, vol.5
, pp. 1000529
-
-
Howie, B.N.1
Donnelly, P.2
Marchini, J.3
-
38
-
-
34347344976
-
A new multipoint method for genome-wide association studies by imputation of genotypes
-
J. Marchini, B. Howie, and S. Myers et al. 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
-
39
-
-
84864417548
-
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
-
B. Howie, C. Fuchsberger, and M. Stephens et al. 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
-
40
-
-
84856478855
-
A linear complexity phasing method for thousands of genomes
-
O. Delaneau, J. Marchini, and J.F. Zagury A linear complexity phasing method for thousands of genomes Nat Methods 9 2012 179 181
-
(2012)
Nat Methods
, vol.9
, pp. 179-181
-
-
Delaneau, O.1
Marchini, J.2
Zagury, J.F.3
-
41
-
-
77955087288
-
Genome-Wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease
-
E.F. Remmers, F. Cosan, and Y. Kirino et al. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease Nat Genet. 42 2010 698 702
-
(2010)
Nat Genet.
, vol.42
, pp. 698-702
-
-
Remmers, E.F.1
Cosan, F.2
Kirino, Y.3
-
42
-
-
84873091770
-
Genome-wide association analysis identifies new susceptibility loci for Behcet's disease and epistasis between HLA-B*51 and ERAP1
-
Y. Kirino, G. Bertsias, and Y. Ishigatsubo et al. Genome-wide association analysis identifies new susceptibility loci for Behcet's disease and epistasis between HLA-B*51 and ERAP1 Nat Genet. 45 2013 202 207
-
(2013)
Nat Genet.
, vol.45
, pp. 202-207
-
-
Kirino, Y.1
Bertsias, G.2
Ishigatsubo, Y.3
-
43
-
-
84878802935
-
Imputing amino acid polymorphisms in human leukocyte antigens
-
X. Jia, B. Han, and S. Onengut-Gumuscu et al. Imputing amino acid polymorphisms in human leukocyte antigens PLoS One 8 2013 e64683
-
(2013)
PLoS One
, vol.8
, pp. 64683
-
-
Jia, X.1
Han, B.2
Onengut-Gumuscu, S.3
-
44
-
-
78650084232
-
The major genetic determinants of HIV-1 control affect HLA class i peptide presentation
-
F. Pereyra, X. Jia, and P.J. McLaren et al. The major genetic determinants of HIV-1 control affect HLA class I peptide presentation Science 330 2010 1551 1557
-
(2010)
Science
, vol.330
, pp. 1551-1557
-
-
Pereyra, F.1
Jia, X.2
McLaren, P.J.3
-
45
-
-
0023500817
-
The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis
-
P.K. Gregersen, J. Silver, and R.J. Winchester 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
-
46
-
-
84862776511
-
Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis
-
S. Raychaudhuri, C. Sandor, and E.A. Stahl 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
-
47
-
-
84902584326
-
Behçet's disease-associated MHC class i residues implicate antigen binding and regulation of cell-mediated cytotoxicity
-
[Published online ahead of print], May 12, 2014
-
M.J. Ombrello, Y. Kirino, P.I.W. de Bakker, et al., Behçet's disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity, Proc Natl Acad Sci U S A. [Published online ahead of print], May 12, 2014.
-
Proc Natl Acad Sci U S A.
-
-
Ombrello, M.J.1
Kirino, Y.2
De Bakker, P.I.W.3
-
48
-
-
77952888454
-
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
-
E.A. Stahl, S. Raychaudhuri, and E.F. Remmers et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci Nat Genet. 42 2010 508 514
-
(2010)
Nat Genet.
, vol.42
, pp. 508-514
-
-
Stahl, E.A.1
Raychaudhuri, S.2
Remmers, E.F.3
-
49
-
-
84862809846
-
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population
-
Y. Okada, C. Terao, and K. Ikari et al. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population Nat Genet. 44 2012 511 516
-
(2012)
Nat Genet.
, vol.44
, pp. 511-516
-
-
Okada, Y.1
Terao, C.2
Ikari, K.3
-
50
-
-
84894288992
-
Genetics of rheumatoid arthritis contributes to biology and drug discovery
-
Y. Okada, D. Wu, and G. Trynka 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
-
51
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
D.M. Altshuler, R.A. Gibbs, and L. Peltonen et al. Integrating common and rare genetic variation in diverse human populations Nature 467 2010 52 58
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
Altshuler, D.M.1
Gibbs, R.A.2
Peltonen, L.3
-
52
-
-
79960279940
-
Promise and pitfalls of the immunochip
-
A. Cortes, and M.A. Brown 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
-
53
-
-
84878739093
-
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis
-
A. Hinks, J. Cobb, and M.C. Marion et al. Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis Nat Genet. 45 2013 664 669
-
(2013)
Nat Genet.
, vol.45
, pp. 664-669
-
-
Hinks, A.1
Cobb, J.2
Marion, M.C.3
-
54
-
-
84884769487
-
In search of low-frequency and rare variants affecting complex traits
-
K. Panoutsopoulou, I. Tachmazidou, and E. Zeggini In search of low-frequency and rare variants affecting complex traits Hum Mol Genet. 22 2013 R16 21
-
(2013)
Hum Mol Genet.
, vol.22
, pp. 16-21
-
-
Panoutsopoulou, K.1
Tachmazidou, I.2
Zeggini, E.3
-
55
-
-
80054975975
-
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
-
M.A. Rivas, M. Beaudoin, and A. Gardet et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease Nat Genet 43 2011 1066 1073
-
(2011)
Nat Genet
, vol.43
, pp. 1066-1073
-
-
Rivas, M.A.1
Beaudoin, M.2
Gardet, A.3
-
56
-
-
84864459073
-
Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13
-
S.D. Thompson, M.C. Marion, and M. Sudman et al. Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13 Arthritis Rheum 64 2012 2781 2791
-
(2012)
Arthritis Rheum
, vol.64
, pp. 2781-2791
-
-
Thompson, S.D.1
Marion, M.C.2
Sudman, M.3
-
57
-
-
78249237207
-
The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1
-
S.D. Thompson, M. Sudman, and P.S. Ramos et al. The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1 Arthritis Rheum 62 2010 3265 3276
-
(2010)
Arthritis Rheum
, vol.62
, pp. 3265-3276
-
-
Thompson, S.D.1
Sudman, M.2
Ramos, P.S.3
-
58
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
L.A. Hindorff, P. Sethupathy, and H.A. Junkins et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits Proc Natl Acad Sci U S A 106 2009 9362 9367
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
-
59
-
-
84865755978
-
The accessible chromatin landscape of the human genome
-
R.E. Thurman, E. Rynes, and R. Humbert et al. The accessible chromatin landscape of the human genome Nature 489 2012 75 82
-
(2012)
Nature
, vol.489
, pp. 75-82
-
-
Thurman, R.E.1
Rynes, E.2
Humbert, R.3
-
60
-
-
0032992224
-
DNA methylation represses transcription in vivo
-
Z. Siegfried, S. Eden, and M. Mendelsohn et al. DNA methylation represses transcription in vivo Nat Genet 22 1999 203 206
-
(1999)
Nat Genet
, vol.22
, pp. 203-206
-
-
Siegfried, Z.1
Eden, S.2
Mendelsohn, M.3
-
61
-
-
33847334699
-
Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome
-
N.D. Heintzman, R.K. Stuart, and G. Hon et al. Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome Nat Genet 39 2007 311 318
-
(2007)
Nat Genet
, vol.39
, pp. 311-318
-
-
Heintzman, N.D.1
Stuart, R.K.2
Hon, G.3
-
62
-
-
79952192654
-
Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
-
I. Adrianto, F. Wen, and A. Templeton et al. Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus Nat Genet 43 2011 253 258
-
(2011)
Nat Genet
, vol.43
, pp. 253-258
-
-
Adrianto, I.1
Wen, F.2
Templeton, A.3
-
63
-
-
84863393160
-
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
-
S431-S432
-
C.A. Albers, D.S. Paul, and H. Schulze et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome Nat Genet 44 2012 435 439 S431-S432
-
(2012)
Nat Genet
, vol.44
, pp. 435-439
-
-
Albers, C.A.1
Paul, D.S.2
Schulze, H.3
-
64
-
-
84873086126
-
Chromatin marks identify critical cell types for fine mapping complex trait variants
-
G. Trynka, C. Sandor, and B. Han et al. Chromatin marks identify critical cell types for fine mapping complex trait variants Nat Genet 45 2013 124 130
-
(2013)
Nat Genet
, vol.45
, pp. 124-130
-
-
Trynka, G.1
Sandor, C.2
Han, B.3
-
65
-
-
77950243833
-
Multiple common variants for celiac disease influencing immune gene expression
-
P.C. Dubois, G. Trynka, and L. Franke et al. Multiple common variants for celiac disease influencing immune gene expression Nat Genet 42 2010 295 302
-
(2010)
Nat Genet
, vol.42
, pp. 295-302
-
-
Dubois, P.C.1
Trynka, G.2
Franke, L.3
-
66
-
-
82255192188
-
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
-
G. Trynka, K.A. Hunt, and N.A. Bockett et al. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease Nat Genet 43 2011 1193 1201
-
(2011)
Nat Genet
, vol.43
, pp. 1193-1201
-
-
Trynka, G.1
Hunt, K.A.2
Bockett, N.A.3
-
67
-
-
0035656688
-
Non-coding RNA genes and the modern RNA world
-
S.R. Eddy Non-coding RNA genes and the modern RNA world Nat Rev Genet 2 2001 919 929
-
(2001)
Nat Rev Genet
, vol.2
, pp. 919-929
-
-
Eddy, S.R.1
-
68
-
-
84865757142
-
Landscape of transcription in human cells
-
S. Djebali, C.A. Davis, and A. Merkel et al. Landscape of transcription in human cells Nature 489 2012 101 108
-
(2012)
Nature
, vol.489
, pp. 101-108
-
-
Djebali, S.1
Davis, C.A.2
Merkel, A.3
-
69
-
-
84875183056
-
Structure and function of long noncoding RNAs in epigenetic regulation
-
T.R. Mercer, and J.S. Mattick Structure and function of long noncoding RNAs in epigenetic regulation Nat Struct Mol Biol 20 2013 300 307
-
(2013)
Nat Struct Mol Biol
, vol.20
, pp. 300-307
-
-
Mercer, T.R.1
Mattick, J.S.2
-
70
-
-
0035905766
-
Role for a bidentate ribonuclease in the initiation step of RNA interference
-
E. Bernstein, A.A. Caudy, and S.M. Hammond et al. Role for a bidentate ribonuclease in the initiation step of RNA interference Nature 409 2001 363 366
-
(2001)
Nature
, vol.409
, pp. 363-366
-
-
Bernstein, E.1
Caudy, A.A.2
Hammond, S.M.3
-
71
-
-
0141843656
-
The nuclear RNase III Drosha initiates microRNA processing
-
Y. Lee, C. Ahn, and J. Han et al. The nuclear RNase III Drosha initiates microRNA processing Nature 425 2003 415 419
-
(2003)
Nature
, vol.425
, pp. 415-419
-
-
Lee, Y.1
Ahn, C.2
Han, J.3
-
72
-
-
36349032759
-
MicroRNAs in disease and potential therapeutic applications
-
H.S. Soifer, J.J. Rossi, and P. Saetrom MicroRNAs in disease and potential therapeutic applications Mol Ther 15 2007 2070 2079
-
(2007)
Mol Ther
, vol.15
, pp. 2070-2079
-
-
Soifer, H.S.1
Rossi, J.J.2
Saetrom, P.3
-
73
-
-
42449156220
-
Altered expression of MicroRNA in synovial fibroblasts and synovial tissue in rheumatoid arthritis
-
J. Stanczyk, D.M. Pedrioli, and F. Brentano et al. Altered expression of MicroRNA in synovial fibroblasts and synovial tissue in rheumatoid arthritis Arthritis Rheum 58 2008 1001 1009
-
(2008)
Arthritis Rheum
, vol.58
, pp. 1001-1009
-
-
Stanczyk, J.1
Pedrioli, D.M.2
Brentano, F.3
-
74
-
-
77952086523
-
Plasma and synovial fluid microRNAs as potential biomarkers of rheumatoid arthritis and osteoarthritis
-
K. Murata, H. Yoshitomi, and S. Tanida et al. Plasma and synovial fluid microRNAs as potential biomarkers of rheumatoid arthritis and osteoarthritis Arthritis Res Ther 12 2010 R86
-
(2010)
Arthritis Res Ther
, vol.12
, pp. 86
-
-
Murata, K.1
Yoshitomi, H.2
Tanida, S.3
-
75
-
-
33747608638
-
NF-kappaB-dependent induction of microRNA miR-146, an inhibitor targeted to signaling proteins of innate immune responses
-
K.D. Taganov, M.P. Boldin, and K.J. Chang et al. NF-kappaB-dependent induction of microRNA miR-146, an inhibitor targeted to signaling proteins of innate immune responses Proc Natl Acad Sci U S A 103 2006 12481 12486
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 12481-12486
-
-
Taganov, K.D.1
Boldin, M.P.2
Chang, K.J.3
-
76
-
-
79251592866
-
Mechanistic role of microRNA-146a in endotoxin-induced differential cross-regulation of TLR signaling
-
M.A. Nahid, M. Satoh, and E.K. Chan Mechanistic role of microRNA-146a in endotoxin-induced differential cross-regulation of TLR signaling J Immunol 186 2011 1723 1734
-
(2011)
J Immunol
, vol.186
, pp. 1723-1734
-
-
Nahid, M.A.1
Satoh, M.2
Chan, E.K.3
-
77
-
-
14844354250
-
Accumulation of miR-155 and BIC RNA in human B cell lymphomas
-
P.S. Eis, W. Tam, and L. Sun et al. Accumulation of miR-155 and BIC RNA in human B cell lymphomas Proc Natl Acad Sci U S A 102 2005 3627 3632
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 3627-3632
-
-
Eis, P.S.1
Tam, W.2
Sun, L.3
-
78
-
-
79960595150
-
MicroRNA-155 as a proinflammatory regulator in clinical and experimental arthritis
-
M. Kurowska-Stolarska, S. Alivernini, and L.E. Ballantine et al. MicroRNA-155 as a proinflammatory regulator in clinical and experimental arthritis Proc Natl Acad Sci U S A 108 2011 11193 11198
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 11193-11198
-
-
Kurowska-Stolarska, M.1
Alivernini, S.2
Ballantine, L.E.3
-
79
-
-
79955561084
-
Essential role of microRNA-155 in the pathogenesis of autoimmune arthritis in mice
-
S. Bluml, M. Bonelli, and B. Niederreiter et al. Essential role of microRNA-155 in the pathogenesis of autoimmune arthritis in mice Arthritis Rheum 63 2011 1281 1288
-
(2011)
Arthritis Rheum
, vol.63
, pp. 1281-1288
-
-
Bluml, S.1
Bonelli, M.2
Niederreiter, B.3
-
80
-
-
39849096995
-
Regulation of progenitor cell proliferation and granulocyte function by microRNA-223
-
J.B. Johnnidis, M.H. Harris, and R.T. Wheeler et al. Regulation of progenitor cell proliferation and granulocyte function by microRNA-223 Nature 451 2008 1125 1129
-
(2008)
Nature
, vol.451
, pp. 1125-1129
-
-
Johnnidis, J.B.1
Harris, M.H.2
Wheeler, R.T.3
-
81
-
-
84865304885
-
Inducible microRNA-223 down-regulation promotes TLR-triggered IL-6 and IL-1beta production in macrophages by targeting STAT3
-
Q. Chen, H. Wang, and Y. Liu et al. Inducible microRNA-223 down-regulation promotes TLR-triggered IL-6 and IL-1beta production in macrophages by targeting STAT3 PLoS One 7 2012 e42971
-
(2012)
PLoS One
, vol.7
, pp. 42971
-
-
Chen, Q.1
Wang, H.2
Liu, Y.3
-
82
-
-
84867320879
-
Cutting edge: MiR-223 and EBV miR-BART15 regulate the NLRP3 inflammasome and IL-1beta production
-
M. Haneklaus, M. Gerlic, and M. Kurowska-Stolarska et al. Cutting edge: miR-223 and EBV miR-BART15 regulate the NLRP3 inflammasome and IL-1beta production J Immunol 189 2012 3795 3799
-
(2012)
J Immunol
, vol.189
, pp. 3795-3799
-
-
Haneklaus, M.1
Gerlic, M.2
Kurowska-Stolarska, M.3
-
83
-
-
84867304098
-
NLRP3 inflammasome activity is negatively controlled by miR-223
-
F. Bauernfeind, A. Rieger, and F.A. Schildberg et al. NLRP3 inflammasome activity is negatively controlled by miR-223 J Immunol 189 2012 4175 4181
-
(2012)
J Immunol
, vol.189
, pp. 4175-4181
-
-
Bauernfeind, F.1
Rieger, A.2
Schildberg, F.A.3
-
84
-
-
74449090482
-
MiR-223 is overexpressed in T-lymphocytes of patients affected by rheumatoid arthritis
-
V. Fulci, G. Scappucci, and G.D. Sebastiani et al. miR-223 is overexpressed in T-lymphocytes of patients affected by rheumatoid arthritis Hum Immunol 71 2010 206 211
-
(2010)
Hum Immunol
, vol.71
, pp. 206-211
-
-
Fulci, V.1
Scappucci, G.2
Sebastiani, G.D.3
-
85
-
-
58049186787
-
Suppression of LPS-induced Interferon-gamma and nitric oxide in splenic lymphocytes by select estrogen-regulated microRNAs: A novel mechanism of immune modulation
-
R. Dai, R.A. Phillips, and Y. Zhang et al. Suppression of LPS-induced Interferon-gamma and nitric oxide in splenic lymphocytes by select estrogen-regulated microRNAs: a novel mechanism of immune modulation Blood 112 2008 4591 4597
-
(2008)
Blood
, vol.112
, pp. 4591-4597
-
-
Dai, R.1
Phillips, R.A.2
Zhang, Y.3
-
86
-
-
82755189251
-
Selective upregulation of microRNA expression in peripheral blood leukocytes in IL-10-/- mice precedes expression in the colon
-
J.S. Schaefer, D. Montufar-Solis, and N. Vigneswaran et al. Selective upregulation of microRNA expression in peripheral blood leukocytes in IL-10-/- mice precedes expression in the colon J Immunol 187 2011 5834 5841
-
(2011)
J Immunol
, vol.187
, pp. 5834-5841
-
-
Schaefer, J.S.1
Montufar-Solis, D.2
Vigneswaran, N.3
-
87
-
-
62249133709
-
Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals
-
M. Guttman, I. Amit, and M. Garber et al. Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals Nature 458 2009 223 227
-
(2009)
Nature
, vol.458
, pp. 223-227
-
-
Guttman, M.1
Amit, I.2
Garber, M.3
-
88
-
-
84879969127
-
Ribosome profiling provides evidence that large noncoding RNAs do not encode proteins
-
M. Guttman, P. Russell, and N.T. Ingolia et al. Ribosome profiling provides evidence that large noncoding RNAs do not encode proteins Cell 154 2013 240 251
-
(2013)
Cell
, vol.154
, pp. 240-251
-
-
Guttman, M.1
Russell, P.2
Ingolia, N.T.3
-
89
-
-
84892923750
-
The long noncoding RNA THRIL regulates TNFalpha expression through its interaction with hnRNPL
-
Z. Li, T.C. Chao, and K.Y. Chang et al. The long noncoding RNA THRIL regulates TNFalpha expression through its interaction with hnRNPL Proc Natl Acad Sci U S A 111 2014 1002 1007
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, pp. 1002-1007
-
-
Li, Z.1
Chao, T.C.2
Chang, K.Y.3
-
90
-
-
0038371368
-
Tmevpg1, a candidate gene for the control of Theiler's virus persistence, could be implicated in the regulation of gamma interferon
-
S. Vigneau, P.S. Rohrlich, and M. Brahic et al. Tmevpg1, a candidate gene for the control of Theiler's virus persistence, could be implicated in the regulation of gamma interferon J Virol 77 2003 5632 5638
-
(2003)
J Virol
, vol.77
, pp. 5632-5638
-
-
Vigneau, S.1
Rohrlich, P.S.2
Brahic, M.3
-
91
-
-
84865425772
-
Cutting edge: Influence of Tmevpg1, a long intergenic noncoding RNA, on the expression of Ifng by Th1 cells
-
S.P. Collier, P.L. Collins, and C.L. Williams et al. Cutting edge: influence of Tmevpg1, a long intergenic noncoding RNA, on the expression of Ifng by Th1 cells J Immunol 189 2012 2084 2088
-
(2012)
J Immunol
, vol.189
, pp. 2084-2088
-
-
Collier, S.P.1
Collins, P.L.2
Williams, C.L.3
-
92
-
-
84874025014
-
The NeST long ncRNA controls microbial susceptibility and epigenetic activation of the interferon-gamma locus
-
J.A. Gomez, O.L. Wapinski, and Y.W. Yang et al. The NeST long ncRNA controls microbial susceptibility and epigenetic activation of the interferon-gamma locus Cell 152 2013 743 754
-
(2013)
Cell
, vol.152
, pp. 743-754
-
-
Gomez, J.A.1
Wapinski, O.L.2
Yang, Y.W.3
-
94
-
-
33746876396
-
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition
-
R. Goldbach-Mansky, N.J. Dailey, and S.W. Canna et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition N Engl J Med 355 2006 581 592
-
(2006)
N Engl J Med
, vol.355
, pp. 581-592
-
-
Goldbach-Mansky, R.1
Dailey, N.J.2
Canna, S.W.3
-
95
-
-
66649121678
-
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
-
I. Aksentijevich, S.L. Masters, and P.J. Ferguson et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist N Engl J Med 360 2009 2426 2437
-
(2009)
N Engl J Med
, vol.360
, pp. 2426-2437
-
-
Aksentijevich, I.1
Masters, S.L.2
Ferguson, P.J.3
-
96
-
-
65949107547
-
Common genetic variation and human traits
-
D.B. Goldstein Common genetic variation and human traits N Engl J Med 360 2009 1696 1698
-
(2009)
N Engl J Med
, vol.360
, pp. 1696-1698
-
-
Goldstein, D.B.1
-
97
-
-
84887010498
-
Genome engineering using the CRISPR-Cas9 system
-
F.A. Ran, P.D. Hsu, and J. Wright et al. Genome engineering using the CRISPR-Cas9 system Nat Protoc 8 2013 2281 2308 Diseases
-
(2013)
Nat Protoc
, vol.8
, pp. 2281-2308
-
-
Ran, F.A.1
Hsu, P.D.2
Wright, J.3
|