-
1
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Genomes Project Consortium AG
-
Genomes Project Consortium AG (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
2
-
-
78650084232
-
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation
-
The International HIV Controllers Study PF
-
The International HIV Controllers Study PF (2010) The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science 330: 1551-1557.
-
(2010)
Science
, vol.330
, pp. 1551-1557
-
-
-
3
-
-
84864425646
-
Subgroup-specific structural variation across 1,000 medulloblastoma genomes
-
Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, et al. (2012) Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature 488: 49-56.
-
(2012)
Nature
, vol.488
, pp. 49-56
-
-
Northcott, P.A.1
Shih, D.J.2
Peacock, J.3
Garzia, L.4
Morrissy, A.S.5
-
4
-
-
84856268319
-
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma
-
Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, et al. (2012) Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet 44: 133-139.
-
(2012)
Nat Genet
, vol.44
, pp. 133-139
-
-
Nikolaev, S.I.1
Rimoldi, D.2
Iseli, C.3
Valsesia, A.4
Robyr, D.5
-
5
-
-
77951115122
-
International network of cancer genome projects
-
International Cancer Genome C
-
International Cancer Genome C, Hudson TJ, Anderson W, Artez A, Barker AD, et al. (2010) International network of cancer genome projects. Nature 464: 993-998.
-
(2010)
Nature
, vol.464
, pp. 993-998
-
-
Hudson, T.J.1
Anderson, W.2
Artez, A.3
Barker, A.D.4
-
6
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
-
7
-
-
34547100092
-
SNAP: Predict effect of non-synonymous polymorphisms on function
-
DOI 10.1093/nar/gkm238
-
Bromberg Y, Rost B (2007) SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 35: 3823-3835. (Pubitemid 47244674)
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.11
, pp. 3823-3835
-
-
Bromberg, Y.1
Rost, B.2
-
8
-
-
38549146891
-
ColiSNP database server mapping nsSNPs on protein structures
-
DOI 10.1093/nar/gkm801
-
Kono H, Yuasa T, Nishiue S, Yura K (2008) coliSNP database server mapping nsSNPs on protein structures. Nucleic Acids Res 36: D409-413. (Pubitemid 351149758)
-
(2008)
Nucleic Acids Research
, vol.36
, Issue.SUPPL. 1
-
-
Kono, H.1
Yuasa, T.2
Nishiue, S.3
Yura, K.4
-
9
-
-
38549158538
-
F-SNP: Computationally predicted functional SNPs for disease association studies
-
DOI 10.1093/nar/gkm904
-
Lee PH, Shatkay H (2008) F-SNP: computationally predicted functional SNPs for disease association studies. Nucleic Acids Res 36: D820-824. (Pubitemid 351149829)
-
(2008)
Nucleic Acids Research
, vol.36
, Issue.SUPPL. 1
-
-
Lee, P.H.1
Shatkay, H.2
-
10
-
-
13444270842
-
SNPeffect: A database mapping molecular phenotypic effects of human non-synonymous coding SNPs
-
DOI 10.1093/nar/gki086
-
Reumers J, Schymkowitz J, Ferkinghoff-Borg J, Stricher F, Serrano L, et al. (2005) SNPeffect: a database mapping molecular phenotypic effects of human non-synonymous coding SNPs. Nucleic Acids Res 33: D527-532. (Pubitemid 40207930)
-
(2005)
Nucleic Acids Research
, vol.33
, Issue.DATABASE ISS.
-
-
Reumers, J.1
Schymkowitz, J.2
Ferkinghoff-Borg, J.3
Stricher, F.4
Serrano, L.5
Rousseau, F.6
-
11
-
-
40549095676
-
Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase
-
DOI 10.1002/humu.20671
-
Yip YL, Famiglietti M, Gos A, Duek PD, David FP, et al. (2008) Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase. Hum Mutat 29: 361-366. (Pubitemid 351364937)
-
(2008)
Human Mutation
, vol.29
, Issue.3
, pp. 361-366
-
-
Yip, Y.L.1
Famiglietti, M.2
Gos, A.3
Duek, P.D.4
David, F.P.A.5
Gateau, A.6
Bairoch, A.7
-
12
-
-
80053189298
-
Predicting the functional impact of protein mutations: Application to cancer genomics
-
Reva B, Antipin Y, Sander C (2011) Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res 39: e118.
-
(2011)
Nucleic Acids Res
, vol.39
-
-
Reva, B.1
Antipin, Y.2
Sander, C.3
-
13
-
-
84885190937
-
The Effects of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) on Protein-Protein Interactions
-
Yates CM, Sternberg MJ (2013) The Effects of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) on Protein-Protein Interactions. J Mol Biol 425: 3949-3963.
-
(2013)
J Mol Biol
, vol.425
, pp. 3949-3963
-
-
Yates, C.M.1
Sternberg, M.J.2
-
14
-
-
58349110961
-
MotifMap: A human genome-wide map of candidate regulatory motif sites
-
Xie X, Rigor P, Baldi P (2009) MotifMap: a human genome-wide map of candidate regulatory motif sites. Bioinformatics 25: 167-174.
-
(2009)
Bioinformatics
, vol.25
, pp. 167-174
-
-
Xie, X.1
Rigor, P.2
Baldi, P.3
-
15
-
-
58149202173
-
Minimotif miner 2nd release: A database and web system for motif search
-
Rajasekaran S, Balla S, Gradie P, Gryk MR, Kadaveru K, et al. (2009) Minimotif miner 2nd release: a database and web system for motif search. Nucleic Acids Res 37: D185-190.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Rajasekaran, S.1
Balla, S.2
Gradie, P.3
Gryk, M.R.4
Kadaveru, K.5
-
17
-
-
0037453510
-
Assembly of cell regulatory systems through protein interaction domains
-
DOI 10.1126/science.1083653
-
Pawson T, Nash P (2003) Assembly of cell regulatory systems through protein interaction domains. Science 300: 445-452. (Pubitemid 36444318)
-
(2003)
Science
, vol.300
, Issue.5618
, pp. 445-452
-
-
Pawson, T.1
Nash, P.2
-
18
-
-
33846661178
-
A tale of two tails: Why are terminal residues of proteins exposed?
-
DOI 10.1093/bioinformatics/btl318
-
Jacob E, Unger R (2007) A tale of two tails: why are terminal residues of proteins exposed? Bioinformatics 23: e225-230. (Pubitemid 46189661)
-
(2007)
Bioinformatics
, vol.23
, Issue.2
-
-
Jacob, E.1
Unger, R.2
-
19
-
-
54749086397
-
A specificity map for the PDZ domain family
-
Tonikian R, Zhang Y, Sazinsky SL, Currell B, Yeh JH, et al. (2008) A specificity map for the PDZ domain family. PLoS Biol 6: e239.
-
(2008)
PLoS Biol
, vol.6
-
-
Tonikian, R.1
Zhang, Y.2
Sazinsky, S.L.3
Currell, B.4
Yeh, J.H.5
-
20
-
-
84876158670
-
The switches.ELM resource: A compendium of conditional regulatory interaction interfaces
-
Van Roey K, Dinkel H, Weatheritt RJ, Gibson TJ, Davey NE (2013) The switches.ELM resource: a compendium of conditional regulatory interaction interfaces. Sci Signal 6: rs7.
-
(2013)
Sci Signal
, vol.6
-
-
Van Roey, K.1
Dinkel, H.2
Weatheritt, R.J.3
Gibson, T.J.4
Davey, N.E.5
-
21
-
-
28544450594
-
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
-
DOI 10.1007/s00109-005-0719-4
-
Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, et al. (2005) A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. J Mol Med (Berl) 83: 1025-1032. (Pubitemid 41745761)
-
(2005)
Journal of Molecular Medicine
, vol.83
, Issue.12
, pp. 1025-1032
-
-
Kalay, E.1
De Brouwer, A.P.M.2
Caylan, R.3
Nabuurs, S.B.4
Wollnik, B.5
Karaguzel, A.6
Heister, J.G.A.M.7
Erdol, H.8
Cremers, F.P.M.9
Cremers, C.W.R.J.10
Brunner, H.G.11
Kremer, H.12
-
22
-
-
17544399838
-
A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting
-
DOI 10.1086/380418
-
Muller D, Kausalya PJ, Claverie-Martin F, Meij IC, Eggert P, et al. (2003) A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am J Hum Genet 73: 1293-1301. (Pubitemid 38037423)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.6
, pp. 1293-1301
-
-
Muller, D.1
Kausalya, P.J.2
Claverie-Martin, F.3
Meij, I.C.4
Eggert, P.5
Garcia-Nieto, V.6
Hunziker, W.7
-
23
-
-
34547530823
-
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
-
DOI 10.1038/ng2073, PII NG2073
-
Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, et al. (2007) Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 39: 1007-1012. (Pubitemid 47185177)
-
(2007)
Nature Genetics
, vol.39
, Issue.8
, pp. 1007-1012
-
-
Pandit, B.1
Sarkozy, A.2
Pennacchio, L.A.3
Carta, C.4
Oishi, K.5
Martinelli, S.6
Pogna, E.A.7
Schackwitz, W.8
Ustaszewska, A.9
Landstrom, A.10
Bos, J.M.11
Ommen, S.R.12
Esposito, G.13
Lepri, F.14
Faul, C.15
Mundel, P.16
Lopez, S.J.P.17
Tenconi, R.18
Selicorni, A.19
Rossi, C.20
Mazzanti, L.21
Torrente, I.22
Marino, B.23
Digilio, M.C.24
Zampino, G.25
Ackerman, M.J.26
Dallapiccola, B.27
Tartaglia, M.28
Gelb, B.D.29
more..
-
24
-
-
0031594450
-
Liddle syndrome: An autosomal dominant form of human hypertension
-
Warnock DG (1998) Liddle syndrome: an autosomal dominant form of human hypertension. Kidney Int 53: 18-24.
-
(1998)
Kidney Int
, vol.53
, pp. 18-24
-
-
Warnock, D.G.1
-
25
-
-
71749098088
-
ELM: The status of the 2010 eukaryotic linear motif resource
-
Gould CM, Diella F, Via A, Puntervoll P, Gemund C, et al. (2010) ELM: the status of the 2010 eukaryotic linear motif resource. Nucleic Acids Res 38: D167-180.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Gould, C.M.1
Diella, F.2
Via, A.3
Puntervoll, P.4
Gemund, C.5
-
26
-
-
79955569676
-
The multiple-specificity landscape of modular peptide recognition domains
-
Gfeller D, Butty F, Wierzbicka M, Verschueren E, Vanhee P, et al. (2011) The multiple-specificity landscape of modular peptide recognition domains. Mol Syst Biol 7: 484.
-
(2011)
Mol Syst Biol
, vol.7
, pp. 484
-
-
Gfeller, D.1
Butty, F.2
Wierzbicka, M.3
Verschueren, E.4
Vanhee, P.5
-
27
-
-
77957737014
-
Proteome scanning to predict PDZ domain interactions using support vector machines
-
Hui S, Bader GD (2010) Proteome scanning to predict PDZ domain interactions using support vector machines. BMC Bioinformatics 11: 507.
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 507
-
-
Hui, S.1
Bader, G.D.2
-
28
-
-
51349085386
-
Predicting PDZ domain-peptide interactions from primary sequences
-
Chen JR, Chang BH, Allen JE, Stiffler MA, MacBeath G (2008) Predicting PDZ domain-peptide interactions from primary sequences. Nat Biotechnol 26: 1041-1045.
-
(2008)
Nat Biotechnol
, vol.26
, pp. 1041-1045
-
-
Chen, J.R.1
Chang, B.H.2
Allen, J.E.3
Stiffler, M.A.4
MacBeath, G.5
-
29
-
-
84864593318
-
Uncovering new aspects of protein interactions through analysis of specificity landscapes in peptide recognition domains
-
Gfeller D (2012) Uncovering new aspects of protein interactions through analysis of specificity landscapes in peptide recognition domains. FEBS Lett 586: 2764-2772.
-
(2012)
FEBS Lett
, vol.586
, pp. 2764-2772
-
-
Gfeller, D.1
-
30
-
-
0042622251
-
Scansite 2.0: Proteome-wide prediction of cell signalling interactions using short sequence motifs
-
DOI 10.1093/nar/gkg584
-
Obenauer JC, Cantley LC, Yaffe MB (2003) Scansite 2.0: Proteome-wide prediction of cell signaling interactions using short sequence motifs. Nucleic Acids Res 31: 3635-3641. (Pubitemid 37442212)
-
(2003)
Nucleic Acids Research
, vol.31
, Issue.13
, pp. 3635-3641
-
-
Obenauer, J.C.1
Cantley, L.C.2
Yaffe, M.B.3
-
31
-
-
55749111058
-
Linear motif atlas for phosphorylation-dependent signaling
-
Miller ML, Jensen LJ, Diella F, Jorgensen C, Tinti M, et al. (2008) Linear motif atlas for phosphorylation-dependent signaling. Sci Signal 1: ra2.
-
(2008)
Sci Signal
, vol.1
-
-
Miller, M.L.1
Jensen, L.J.2
Diella, F.3
Jorgensen, C.4
Tinti, M.5
-
32
-
-
84876580944
-
SH3 interactome conserves general function over specific form
-
Xin X, Gfeller D, Cheng J, Tonikian R, Sun L, et al. (2013) SH3 interactome conserves general function over specific form. Mol Syst Biol 9: 652.
-
(2013)
Mol Syst Biol
, vol.9
, pp. 652
-
-
Xin, X.1
Gfeller, D.2
Cheng, J.3
Tonikian, R.4
Sun, L.5
-
33
-
-
0037416152
-
Attenuation of cell adhesion in lymphocytes is regulated by CYTIP, a protein which mediates signal complex sequestration
-
DOI 10.1093/emboj/cdg101
-
Boehm T, Hofer S, Winklehner P, Kellersch B, Geiger C, et al. (2003) Attenuation of cell adhesion in lymphocytes is regulated by CYTIP, a protein which mediates signal complex sequestration. EMBO J 22: 1014-1024. (Pubitemid 36313586)
-
(2003)
EMBO Journal
, vol.22
, Issue.5
, pp. 1014-1024
-
-
Boehm, T.1
Hofer, S.2
Winklehner, P.3
Kellersch, B.4
Geiger, C.5
Trockenbacher, A.6
Neyer, S.7
Fiegl, H.8
Ebner, S.9
Ivarsson, L.10
Schneider, R.11
Kremmer, E.12
Heufler, C.13
Kolanus, W.14
-
34
-
-
0035173378
-
DbSNP: The NCBI database of genetic variation
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, et al. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29: 308-311. (Pubitemid 32054478)
-
(2001)
Nucleic Acids Research
, vol.29
, Issue.1
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.-H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
35
-
-
0034069495
-
Gene ontology: Tool for the unification of biology
-
DOI 10.1038/75556
-
Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, et al. (2000) Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet 25: 25-29. (Pubitemid 30257031)
-
(2000)
Nature Genetics
, vol.25
, Issue.1
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
Cherry, J.M.6
Davis, A.P.7
Dolinski, K.8
Dwight, S.S.9
Eppig, J.T.10
Harris, M.A.11
Hill, D.P.12
Issel-Tarver, L.13
Kasarskis, A.14
Lewis, S.15
Matese, J.C.16
Richardson, J.E.17
Ringwald, M.18
Rubin, G.M.19
Sherlock, G.20
more..
-
36
-
-
15944375458
-
PDZBase: A protein-protein interaction database for PDZ-domains
-
DOI 10.1093/bioinformatics/bti098
-
Beuming T, Skrabanek L, Niv MY, Mukherjee P, Weinstein H (2005) PDZBase: a protein-protein interaction database for PDZ-domains. Bioinformatics 21: 827-828. (Pubitemid 40439423)
-
(2005)
Bioinformatics
, vol.21
, Issue.6
, pp. 827-828
-
-
Beuming, T.1
Skrabanek, L.2
Niv, M.Y.3
Mukherjee, P.4
Weinstein, H.5
-
37
-
-
33644873184
-
BioGRID: A general repository for interaction datasets
-
Stark C, Breitkreutz BJ, Reguly T, Boucher L, Breitkreutz A, et al. (2006) BioGRID: a general repository for interaction datasets. Nucleic Acids Res 34: D535-539.
-
(2006)
Nucleic Acids Res
, vol.34
-
-
Stark, C.1
Breitkreutz, B.J.2
Reguly, T.3
Boucher, L.4
Breitkreutz, A.5
-
38
-
-
34250305146
-
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
-
DOI 10.1038/nature05874, PII NATURE05874
-
Birney E, Stamatoyannopoulos JA, Dutta A, Guigo R, Gingeras TR, 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..
-
39
-
-
84864590078
-
The emerging contribution of sequence context to the specificity of protein interactions mediated by PDZ domains
-
Luck K, Charbonnier S, Trave G (2012) The emerging contribution of sequence context to the specificity of protein interactions mediated by PDZ domains. FEBS Lett 586: 2648-2661.
-
(2012)
FEBS Lett
, vol.586
, pp. 2648-2661
-
-
Luck, K.1
Charbonnier, S.2
Trave, G.3
-
40
-
-
79953308652
-
Phage display can select over-hydrophobic sequences that may impair prediction of natural domain-peptide interactions
-
Luck K, Trave G (2011) Phage display can select over-hydrophobic sequences that may impair prediction of natural domain-peptide interactions. Bioinformatics 27: 899-902.
-
(2011)
Bioinformatics
, vol.27
, pp. 899-902
-
-
Luck, K.1
Trave, G.2
-
41
-
-
77955590137
-
Human allelic variation: Perspective from protein function, structure, and evolution
-
Jordan DM, Ramensky VE, Sunyaev SR (2010) Human allelic variation: perspective from protein function, structure, and evolution. Curr Opin Struct Biol 20: 342-350.
-
(2010)
Curr Opin Struct Biol
, vol.20
, pp. 342-350
-
-
Jordan, D.M.1
Ramensky, V.E.2
Sunyaev, S.R.3
-
42
-
-
84881396090
-
Computational approaches to identify functional genetic variants in cancer genomes
-
Gonzalez-Perez A, Mustonen V, Reva B, Ritchie GR, Creixell P, et al. (2013) Computational approaches to identify functional genetic variants in cancer genomes. Nat Methods 10: 723-729.
-
(2013)
Nat Methods
, vol.10
, pp. 723-729
-
-
Gonzalez-Perez, A.1
Mustonen, V.2
Reva, B.3
Ritchie, G.R.4
Creixell, P.5
|