-
1
-
-
0031669184
-
'Overlapping genomic sequences: A treasure trove of single-nucleotide polymorphisms'
-
Taillon-Miller, P., Gu, Z., Li, Q. et al. (1998), 'Overlapping genomic sequences: A treasure trove of single-nucleotide polymorphisms', Genome Res., Vol. 8(7), pp. 748-754.
-
(1998)
Genome Res.
, vol.8
, Issue.7
, pp. 748-754
-
-
Taillon-Miller, P.1
Gu, Z.2
Li, Q.3
-
2
-
-
0035253005
-
'Integration of genome data and protein structures: Prediction of protein folds, protein interactions and "molecular phenotypes" of single nucleotide polymorphisms'
-
Sunyaev, S., Lathe, W. 3rd and Bork, P. (2001), 'Integration of genome data and protein structures: prediction of protein folds, protein interactions and "molecular phenotypes" of single nucleotide polymorphisms', Curr. Opin. Struct. Biol., Vol. 11(1), pp. 125-130.
-
(2001)
Curr. Opin. Struct. Biol.
, vol.11
, Issue.1
, pp. 125-130
-
-
Sunyaev, S.1
Lathe III, W.2
Bork, P.3
-
3
-
-
0042830297
-
'Molecular basis of inherited diseases: A structural perspective'
-
Steward, R. E., MacArthur, M. W., Laskowski, R. A. and Thornton, J. M. (2003), 'Molecular basis of inherited diseases: a structural perspective', Trends in Genetics., Vol. 19(9), pp. 505-513.
-
(2003)
Trends in Genetics
, vol.19
, Issue.9
, pp. 505-513
-
-
Steward, R.E.1
MacArthur, M.W.2
Laskowski, R.A.3
Thornton, J.M.4
-
4
-
-
0038119662
-
'High-throughput SNP analysis for genetic association studies'
-
Marnellos, G. (2003), 'High-throughput SNP analysis for genetic association studies', Curr. Opin. Drug Discov. Devel., Vol. 6(3), pp. 317-321.
-
(2003)
Curr. Opin. Drug Discov. Devel.
, vol.6
, Issue.3
, pp. 317-321
-
-
Marnellos, G.1
-
5
-
-
3442879338
-
'Assessing the function of genetic variants in candidate gene association studies'
-
Rebbeck, T. R., Spitz, M. and Wu, X. (2004), 'Assessing the function of genetic variants in candidate gene association studies', Nat. Rep. Genet., Vol. 5(8), pp. 589-597.
-
(2004)
Nat. Rep. Genet.
, vol.5
, Issue.8
, pp. 589-597
-
-
Rebbeck, T.R.1
Spitz, M.2
Wu, X.3
-
6
-
-
0033516391
-
'A good SNP may be hard to find'
-
Hagmann, M. (1999), 'A good SNP may be hard to find', Science, Vol. 285(5424), pp. 21-22.
-
(1999)
Science
, vol.285
, Issue.5424
, pp. 21-22
-
-
Hagmann, M.1
-
7
-
-
17244381411
-
-
URL
-
URL: http://www.ncbi.nih.nlm.gov/snp/
-
-
-
-
8
-
-
0033985936
-
'Online Mendelian Inheritance in Man (OMIM)'
-
Hamosh, A., Scott, A. F., Amberger, J. et al. (2000), 'Online Mendelian Inheritance in Man (OMIM)', Human Mutat., Vol. 15(1), pp. 57-61.
-
(2000)
Human Mutat.
, vol.15
, Issue.1
, pp. 57-61
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.3
-
9
-
-
0037255072
-
'The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003'
-
Boeckmann, B., Bairoch, A., Apweiler, R. et al. (2003), 'The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003', Nucleic Acids Res., Vol. 31(1), pp. 365-370.
-
(2003)
Nucleic Acids Res.
, vol.31
, Issue.1
, pp. 365-370
-
-
Boeckmann, B.1
Bairoch, A.2
Apweiler, R.3
-
10
-
-
0037903275
-
'Human Gene Mutation Database (HGMD): 2003 update'
-
Stenson, P. D. Ball, E. V., Mort, M. et al. (2003), 'Human Gene Mutation Database (HGMD): 2003 update', Human Mutat., Vol. 21(6), pp. 577-581.
-
(2003)
Human Mutat.
, vol.21
, Issue.6
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
-
11
-
-
0346494815
-
'HGVbase: A curated resource describing human DNA variation and phenotype relationships'
-
(Database issue)
-
Fredman, D., Munns, D., Rios, F. et al. (2004), 'HGVbase: A curated resource describing human DNA variation and phenotype relationships', Nucleic Acids Res., Vol. 32 (Database issue), pp. D516-519.
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Fredman, D.1
Munns, D.2
Rios, F.3
-
12
-
-
0032991552
-
'Characterization of single-nucleotide polymorphisms in coding regions of human genes'
-
Cargill, M., Altshuler, D., Ireland, J. et al. (1999), 'Characterization of single-nucleotide polymorphisms in coding regions of human genes', Nat. Genet., Vol. 22(3), pp. 231-238.
-
(1999)
Nat. Genet.
, vol.22
, Issue.3
, pp. 231-238
-
-
Cargill, M.1
Altshuler, D.2
Ireland, J.3
-
13
-
-
0032990407
-
'Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis'
-
Halushka, M. K., Fan, J. B., Bentley, K. et al. (1999), 'Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis', Nat. Genet., Vol. 22(3), pp. 239-247.
-
(1999)
Nat. Genet.
, vol.22
, Issue.3
, pp. 239-247
-
-
Halushka, M.K.1
Fan, J.B.2
Bentley, K.3
-
14
-
-
2342626490
-
'Functional classification of proteins and protein variants'
-
Lau, A. Y. and Chasman, D. I. (2004), 'Functional classification of proteins and protein variants', Proc. Natl Acad. Sci. USA, Vol. 101(17), pp. 6576-6581.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, Issue.17
, pp. 6576-6581
-
-
Lau, A.Y.1
Chasman, D.I.2
-
15
-
-
2342518375
-
'Structural models of osteogenesis imperfecta-associated variants in the COL1A1 gene'
-
Mooney, S. D. and Klein, T. E. (2002), 'Structural models of osteogenesis imperfecta-associated variants in the COL1A1 gene', Mol. Cell Proteomics, Vol. 1(11), pp. 868-875.
-
(2002)
Mol. Cell Proteomics
, vol.1
, Issue.11
, pp. 868-875
-
-
Mooney, S.D.1
Klein, T.E.2
-
16
-
-
0035937259
-
'Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation'
-
Chasman, D. and Adams, R. M. (2001), 'Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation', J. Mol. Biol., Vol. 307(2), pp. 683-706.
-
(2001)
J. Mol. Biol.
, vol.307
, Issue.2
, pp. 683-706
-
-
Chasman, D.1
Adams, R.M.2
-
17
-
-
0036119504
-
'Accounting for human polymorphisms predicted to affect protein function'
-
Ng, P. C. and Henikoff, S. (2002), 'Accounting for human polymorphisms predicted to affect protein function', Genome Res., Vol. 12(3), pp. 436-446.
-
(2002)
Genome Res.
, vol.12
, Issue.3
, pp. 436-446
-
-
Ng, P.C.1
Henikoff, S.2
-
18
-
-
0036387236
-
'Evaluation of structural and evolutionary contributions to deleterious mutation prediction'
-
Saunders, C. T. and Baker, D. (2002), 'Evaluation of structural and evolutionary contributions to deleterious mutation prediction', J. Mol. Biol., Vol. 322(4), pp. 891-901.
-
(2002)
J. Mol. Biol.
, vol.322
, Issue.4
, pp. 891-901
-
-
Saunders, C.T.1
Baker, D.2
-
19
-
-
0035869223
-
'Prediction of deleterious human alleles'
-
Sunyaev, S., Ramensky, V., Koch, I. et al. (2001), 'Prediction of deleterious human alleles', Human Mol. Genet., Vol. 10(6), pp. 591-597.
-
(2001)
Human Mol. Genet.
, vol.10
, Issue.6
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
-
20
-
-
0034191958
-
'Towards a structural basis of human non-synonymous single nucleotide polymorphisms'
-
Sunyaev, S., Ramensky, V. and Bork, P. (2000), 'Towards a structural basis of human non-synonymous single nucleotide polymorphisms', Trends Genet., Vol. 16(5), pp. 198-200.
-
(2000)
Trends Genet.
, vol.16
, Issue.5
, pp. 198-200
-
-
Sunyaev, S.1
Ramensky, V.2
Bork, P.3
-
21
-
-
0344033683
-
'A comparative study of machine-learning methods to predict the effects of single nucleotide polymorphisms on protein function'
-
Krishnan, V. G. and Westhead, D. R. (2003), 'A comparative study of machine-learning methods to predict the effects of single nucleotide polymorphisms on protein function', Bioinformatics, Vol. 19(17), pp. 2199-2209.
-
(2003)
Bioinformatics
, vol.19
, Issue.17
, pp. 2199-2209
-
-
Krishnan, V.G.1
Westhead, D.R.2
-
22
-
-
0036321534
-
'Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease'
-
Terp, B. N., Cooper, D. N., Christensen, I. T. et al. (2002), 'Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease', Human Mutat., Vol. 20(2), pp. 98-109.
-
(2002)
Human Mutat.
, vol.20
, Issue.2
, pp. 98-109
-
-
Terp, B.N.1
Cooper, D.N.2
Christensen, I.T.3
-
23
-
-
0036300807
-
'Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties'
-
Ferrer-Costa, C., Orozco, M. and de la Cruz, X. (2002), 'Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties', J. Mol. Biol., Vol. 315(4), pp. 771-786.
-
(2002)
J. Mol. Biol.
, vol.315
, Issue.4
, pp. 771-786
-
-
Ferrer-Costa, C.1
Orozco, M.2
de la Cruz, X.3
-
24
-
-
0037432532
-
'Structural location of disease-associated single-nucleotide polymorphisms'
-
Stitziel, N. O., Tseng, J., Pervouchine, D. et al. (2003), 'Structural location of disease-associated single-nucleotide polymorphisms', J. Mol. Biol., Vol. 327(5), pp. 1021-1030.
-
(2003)
J. Mol. Biol.
, vol.327
, Issue.5
, pp. 1021-1030
-
-
Stitziel, N.O.1
Tseng, J.2
Pervouchine, D.3
-
25
-
-
0141833160
-
'The functional importance of disease-associated mutation'
-
Mooney, S. D. and Klein, T. E. (2002), 'The functional importance of disease-associated mutation', BMC Bioinformatics, Vol. 3(1), p. 24.
-
(2002)
BMC Bioinformatics
, vol.3
, Issue.1
, pp. 24
-
-
Mooney, S.D.1
Klein, T.E.2
-
26
-
-
0037799502
-
'A functional analysis of disease-associated mutations in the androgen receptor gene'
-
Mooney, S. D., Klein, T. E., Altman, R. D. et al. (2003), 'A functional analysis of disease-associated mutations in the androgen receptor gene', Nucleic Acids Res., Vol. 31(8), p. e42.
-
(2003)
Nucleic Acids Res.
, vol.31
, Issue.8
-
-
Mooney, S.D.1
Klein, T.E.2
Altman, R.D.3
-
27
-
-
1542577828
-
'The amino-acid mutational spectrum of human genetic disease'
-
Vitkup, D., Sander, C. and Church, G. M. (2003), 'The amino-acid mutational spectrum of human genetic disease', Genome Biol. Vol. 4(11), p. R72.
-
(2003)
Genome Biol.
, vol.4
, Issue.11
-
-
Vitkup, D.1
Sander, C.2
Church, G.M.3
-
28
-
-
0001434413
-
'On the topography of the genetic fine structure'
-
Benzer, S. (1961), 'On the topography of the genetic fine structure', Proc. Natl Acad. Sci. USA, Vol. 47, pp. 403-426.
-
(1961)
Proc. Natl. Acad. Sci. USA
, vol.47
, pp. 403-426
-
-
Benzer, S.1
-
29
-
-
0036911353
-
'Interrogating a high-density SNP map for signatures of natural selection'
-
Akey, J. M., Zhang, G, Zhang, K. et al. (2002), 'Interrogating a high-density SNP map for signatures of natural selection', Genome Res., Vol. 12(12), pp. 1805-1814.
-
(2002)
Genome Res.
, vol.12
, Issue.12
, pp. 1805-1814
-
-
Akey, J.M.1
Zhang, G.2
Zhang, K.3
-
30
-
-
0034924997
-
'Positive and negative selection on the human genome'
-
Fay, J. C., Wyckoff, G. J. and Wu, C. I. (2001), 'Positive and negative selection on the human genome', Genetics, Vol. 158(3), pp. 1227-1234.
-
(2001)
Genetics
, vol.158
, Issue.3
, pp. 1227-1234
-
-
Fay, J.C.1
Wyckoff, G.J.2
Wu, C.I.3
-
31
-
-
0035162272
-
'Database resources of the National Center for Biotechnology Information'
-
Wheeler, D. L., Church, D. M., Federhen, S. et al. (2001), 'Database resources of the National Center for Biotechnology Information', Nucleic Acids Res., Vol. 29(1), pp. 11-16.
-
(2001)
Nucleic Acids Res.
, vol.29
, Issue.1
, pp. 11-16
-
-
Wheeler, D.L.1
Church, D.M.2
Federhen, S.3
-
32
-
-
2442468190
-
'Genome information resources - Developments at Ensembl'
-
Hammond, M. P. and Birney, E. (2004), 'Genome information resources - developments at Ensembl', Trends Genet., Vol. 20(6), pp. 268-272.
-
(2004)
Trends Genet.
, vol.20
, Issue.6
, pp. 268-272
-
-
Hammond, M.P.1
Birney, E.2
-
33
-
-
17244382393
-
-
URL
-
URL: http://www.genomic.unimelb.edu.au/mdi/dblist/dblist.html
-
-
-
-
34
-
-
0036079158
-
'The human genome browser at UCSC'
-
Kent, W. J., Sugnet, C. W., Furey, T. S. et al. (2002), 'The human genome browser at UCSC', Genome Res., Vol. 12(6), pp. 996-1006.
-
(2002)
Genome Res.
, vol.12
, Issue.6
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
-
35
-
-
17244367110
-
-
URL
-
URL: http://www.mysql.com/
-
-
-
-
36
-
-
17244377893
-
-
URL
-
URL: http://www.ensembl.org/
-
-
-
-
37
-
-
17244369552
-
-
URL
-
URL: http://snpper.chip.org/
-
-
-
-
38
-
-
2942549111
-
'A SNP-centric database for the investigation of the human genome'
-
Riva, A. and Kohane, I. S. (2004), 'A SNP-centric database for the investigation of the human genome', BMC Bioinformatics, Vol. 5(1), p. 33.
-
(2004)
BMC Bioinformatics
, vol.5
, Issue.1
, pp. 33
-
-
Riva, A.1
Kohane, I.S.2
-
39
-
-
2942604504
-
'Bioinformatics tools for single nucleotide polymorphism discovery and analysis'
-
Clifford, R. J., Edmonson, M. N., Nguyen, C. U. et al. (2004), 'Bioinformatics tools for single nucleotide polymorphism discovery and analysis', Ann. New York Acad. Sci., Vol. 1020, pp. 101-109.
-
(2004)
Ann. New York Acad. Sci.
, vol.1020
, pp. 101-109
-
-
Clifford, R.J.1
Edmonson, M.N.2
Nguyen, C.U.3
-
40
-
-
13944265644
-
'Genewindow: An international tool for visualization of genomic variation'
-
Staats, B., Qi, L., Beerman, M. et al. (2005), 'Genewindow: an international tool for visualization of genomic variation', Nature Genetics, Vol. 37(2), pp. 109-110.
-
(2005)
Nature Genetics
, vol.37
, Issue.2
, pp. 109-110
-
-
Staats, B.1
Qi, L.2
Beerman, M.3
-
41
-
-
17244367333
-
-
URL
-
URL: http://genome.ucsc.edu/
-
-
-
-
42
-
-
0031834225
-
'It's raining SNPS, hallelujah?'
-
Chakravarti, A. (1998), 'It's raining SNPS, hallelujah?', Nat. Genet., Vol. 19(3), pp. 216-217.
-
(1998)
Nat. Genet.
, vol.19
, Issue.3
, pp. 216-217
-
-
Chakravarti, A.1
-
43
-
-
0032901089
-
'First International SNP Meeting at Skokloster, Sweden, August 1998. Enthusiasm mixed with scepticism about single-nucleotide polymorphism markers for dissecting complex disorders'
-
Syvanen, A. C., Landegren, U., Isaksson, A. et al. (1999), 'First International SNP Meeting at Skokloster, Sweden, August 1998. Enthusiasm mixed with scepticism about single-nucleotide polymorphism markers for dissecting complex disorders', Eur. J. Human Genet., Vol. 7(1), pp. 98-101.
-
(1999)
Eur. J. Human Genet.
, vol.7
, Issue.1
, pp. 98-101
-
-
Syvanen, A.C.1
Landegren, U.2
Isaksson, A.3
-
44
-
-
0030688004
-
'Variations on a theme: Cataloging human DNA sequence variation'
-
Collins, F. S., Guyer, M. S. and Charkravarti, A. (1997), 'Variations on a theme: Cataloging human DNA sequence variation', Science, Vol. 278(5343), pp. 1580-1581.
-
(1997)
Science
, vol.278
, Issue.5343
, pp. 1580-1581
-
-
Collins, F.S.1
Guyer, M.S.2
Charkravarti, A.3
-
45
-
-
0025363984
-
'Deciphering the message in protein sequences: Tolerance to amino acid substitutions'
-
Bowie, J. U., Peidhaar-Olson, J. F., Lim, W. A. and Sauer, R. T. (1990), 'Deciphering the message in protein sequences: Tolerance to amino acid substitutions', Science, Vol. 247(4948), pp. 1306-1310.
-
(1990)
Science
, vol.247
, Issue.4948
, pp. 1306-1310
-
-
Bowie, J.U.1
Peidhaar-Olson, J.F.2
Lim, W.A.3
Sauer, R.T.4
-
46
-
-
0034125195
-
'Glucocorticoids can promote androgen-independent growth of prostate cancer cells through a mutated androgen receptor'
-
Zhao, X. Y., Malloy, P. J., Krishan, A. V. et al. (2000), 'Glucocorticoids can promote androgen-independent growth of prostate cancer cells through a mutated androgen receptor', Nat. Med. Vol. 6(6), pp. 703-706.
-
(2000)
Nat. Med.
, vol.6
, Issue.6
, pp. 703-706
-
-
Zhao, X.Y.1
Malloy, P.J.2
Krishan, A.V.3
-
47
-
-
0028907312
-
'Biological and structural characterization of a Ras transforming mutation at the phenylalanine-156 residue, which is conserved in all members of the Ras superfamily'
-
Quilliam, L. A., Zhong, S., Rabun, K. M. et al. (1995), 'Biological and structural characterization of a Ras transforming mutation at the phenylalanine-156 residue, which is conserved in all members of the Ras superfamily', Proc. Natl Acad. Sci. USA, Vol. 92(5), pp. 1272-1276.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, Issue.5
, pp. 1272-1276
-
-
Quilliam, L.A.1
Zhong, S.2
Rabun, K.M.3
-
48
-
-
3442888250
-
'Bayesian approach to discovering pathogenic SNPs in conserved protein domains'
-
Cai, Z., Tsung, E. F., Marinescu, V. D. et al. (2004), 'Bayesian approach to discovering pathogenic SNPs in conserved protein domains', Human Mutat., Vol. 24(2), pp. 178-184.
-
(2004)
Human Mutat.
, vol.24
, Issue.2
, pp. 178-184
-
-
Cai, Z.1
Tsung, E.F.2
Marinescu, V.D.3
-
49
-
-
0035026704
-
'Predicting deleterious amino acid substitutions'
-
Ng, P. C. and Henikoff, S. (2001), 'Predicting deleterious amino acid substitutions', Genome Res., Vol. 11(5), pp. 863-874.
-
(2001)
Genome Res.
, vol.11
, Issue.5
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
50
-
-
0043122919
-
'SIFT: Predicting amino acid changes that affect protein function'
-
Ng, P. C. and Henikoff, S. (2003), 'SIFT: Predicting amino acid changes that affect protein function', Nucleic Acids Res., Vol. 31(13), pp. 3812-3814.
-
(2003)
Nucleic Acids Res.
, vol.31
, Issue.13
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
51
-
-
1542405868
-
'An evolutionary perspective on single-nucleotide polymorphism screening in molecular cancer epidemiology'
-
Zhu, Y., Spitz, M. R., Amos, C. I. et al. (2004), 'An evolutionary perspective on single-nucleotide polymorphism screening in molecular cancer epidemiology', Cancer Res., Vol. 64(6), pp. 2251-2257.
-
(2004)
Cancer Res.
, vol.64
, Issue.6
, pp. 2251-2257
-
-
Zhu, Y.1
Spitz, M.R.2
Amos, C.I.3
-
52
-
-
0037417814
-
'Understanding missense mutations in the BRCA1 gene: An evolutionary approach'
-
Fleming, M. A., Potter, J. D., Ramirez, C. J. et al. (2003), 'Understanding missense mutations in the BRCA1 gene: An evolutionary approach', Proc. Natl Acad. Sci. USA, Vol. 100(3), pp. 1151-1156.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, Issue.3
, pp. 1151-1156
-
-
Fleming, M.A.1
Potter, J.D.2
Ramirez, C.J.3
-
53
-
-
0035065485
-
'SNPS, protein structure, and disease'
-
Wang, Z. and Moult, J. (2001), 'SNPS, protein structure, and disease', Human Mutat., Vol. 17(4), p. 263-270.
-
(2001)
Human Mutat.
, vol.17
, Issue.4
, pp. 263-270
-
-
Wang, Z.1
Moult, J.2
-
54
-
-
15944417881
-
'Improving functional annotation of non-synonymous SNPs with information theory'
-
Klein, T. E. et al., Eds, 4th-8th January, Hawaii (in press)
-
Karchin, R., Kelly, L. and Sali, A. (2005), 'Improving functional annotation of non-synonymous SNPs with information theory', in Klein, T. E. et al., Eds, 'Proceedings of the 10th Pacific Symposium in Biocomputing 2005', 4th-8th January, Hawaii (in press).
-
(2005)
'Proceedings of the 10th Pacific Symposium in Biocomputing 2005'
-
-
Karchin, R.1
Kelly, L.2
Sali, A.3
-
55
-
-
0036713510
-
'Human non-synonymous SNPS: Server and survey'
-
Ramensky, V., Bork, P. and Sunyaev, S. (2002), 'Human non-synonymous SNPS: Server and survey', Nucleic Acids Res., Vol. 30(17), pp. 3894-3900.
-
(2002)
Nucleic Acids Res.
, vol.30
, Issue.17
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
56
-
-
17244370004
-
-
URL
-
URL: http://snpeffect.vib.be/
-
-
-
-
57
-
-
17244362085
-
-
URL
-
URL: http://www.snps3d.org/
-
-
-
-
58
-
-
0141840821
-
'MutDB: Annotating human variation with functionally relevant data'
-
Mooney, S. D. and Altman, R. B. (2003), 'MutDB: Annotating human variation with functionally relevant data', Bioinformatics, Vol. 19(14), pp. 1858-1860.
-
(2003)
Bioinformatics
, vol.19
, Issue.14
, pp. 1858-1860
-
-
Mooney, S.D.1
Altman, R.B.2
-
59
-
-
0035860293
-
'PicSNP: A browsable catalog of nonsynonymous single nucleotide polymorphisms in the human genome'
-
Chang, H. and Fujita, T. (2001), 'PicSNP: A browsable catalog of nonsynonymous single nucleotide polymorphisms in the human genome', Biochem. Biophys. Res. Commun., Vol. 287(1), pp. 288-291.
-
(2001)
Biochem. Biophys. Res. Commun.
, vol.287
, Issue.1
, pp. 288-291
-
-
Chang, H.1
Fujita, T.2
-
60
-
-
0034161419
-
'Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases'
-
Blencowe, B. J. (2000), 'Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases', Trends Biochem. Sci., Vol. 25(3), pp. 106-110.
-
(2000)
Trends Biochem. Sci.
, vol.25
, Issue.3
, pp. 106-110
-
-
Blencowe, B.J.1
-
61
-
-
0036911605
-
'Distribution and characterization of regulatory elements in the human genome'
-
Majewski, J. and Ott, J. (2002), 'Distribution and characterization of regulatory elements in the human genome', Genome Res., Vol. 12(12), pp. 1827-1836.
-
(2002)
Genome Res.
, vol.12
, Issue.12
, pp. 1827-1836
-
-
Majewski, J.1
Ott, J.2
-
62
-
-
0035340508
-
'Purifying selection on silent sites - A constraint from splicing regulation?'
-
Orban, T. I. and Olah, E. (2001), 'Purifying selection on silent sites - a constraint from splicing regulation?', Trends Genet. Vol. 17(5), pp. 252-253.
-
(2001)
Trends Genet.
, vol.17
, Issue.5
, pp. 252-253
-
-
Orban, T.I.1
Olah, E.2
-
63
-
-
0035158730
-
'A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes'
-
Liu, H. X., Cartegni, L., Zhang, M. Q. and Krainer, A. R. (2001), 'A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes', Nat. Genet., Vol. 27(1), pp. 55-58.
-
(2001)
Nat. Genet.
, vol.27
, Issue.1
, pp. 55-58
-
-
Liu, H.X.1
Cartegni, L.2
Zhang, M.Q.3
Krainer, A.R.4
-
64
-
-
0036724459
-
'BRCA2 T2722R is a deleterious allele that causes exon skipping'
-
Fackenthal, J. D., Cartegni, L., Krainer, A. R. and Olopade, O. I. (2002), 'BRCA2 T2722R is a deleterious allele that causes exon skipping', Amer. J. Human Genet., Vol. 71(3), pp. 625-631.
-
(2002)
Amer. J. Human Genet.
, vol.71
, Issue.3
, pp. 625-631
-
-
Fackenthal, J.D.1
Cartegni, L.2
Krainer, A.R.3
Olopade, O.I.4
-
65
-
-
0033966774
-
'Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1'
-
Ars, E., Serra, E., García, J. et al. (2000), 'Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1', Human Mol. Genet., Vol. 9(2), pp. 237-247.
-
(2000)
Human Mol. Genet.
, vol.9
, Issue.2
, pp. 237-247
-
-
Ars, E.1
Serra, E.2
García, J.3
-
66
-
-
19344367734
-
'Single nucleotide polymorphism-based validation of exonic splicing enhancers'
-
Fairbrother, W. G., Holste, D., Burge, C. B. and Sharp, P. A. (2004), 'Single nucleotide polymorphism-based validation of exonic splicing enhancers', PLoS Biol., Vol. 2(9), p. E268.
-
(2004)
PLoS Biol.
, vol.2
, Issue.9
-
-
Fairbrother, W.G.1
Holste, D.2
Burge, C.B.3
Sharp, P.A.4
-
67
-
-
0037381021
-
'Wanted: Regulatory SNPs'
-
Hudson, T. J. (2003), 'Wanted: Regulatory SNPs', Nat. Genet., Vol. 33(4), pp. 439-440.
-
(2003)
Nat. Genet.
, vol.33
, Issue.4
, pp. 439-440
-
-
Hudson, T.J.1
-
68
-
-
0036843938
-
'Detection of regulatory variation in mouse genes'
-
Cowles, C. R., Joel, N. H., Altshuler, D. and Lander, E. S. (2002), 'Detection of regulatory variation in mouse genes', Nat. Genet., Vol. 32(3), pp. 432-437.
-
(2002)
Nat. Genet.
, vol.32
, Issue.3
, pp. 432-437
-
-
Cowles, C.R.1
Joel, N.H.2
Altshuler, D.3
Lander, E.S.4
-
69
-
-
1242271304
-
'Allele-specific gene expression uncovered'
-
Knight, J. C. (2004), 'Allele-specific gene expression uncovered', Trends Genet., Vol. 20(3), pp. 113-116.
-
(2004)
Trends Genet.
, vol.20
, Issue.3
, pp. 113-116
-
-
Knight, J.C.1
-
70
-
-
10744224159
-
'A survey of genetic and epigenetic variation affecting human gene expression'
-
Pastinen, T., Sladek, R., Gurd, S. et al. (2004), 'A survey of genetic and epigenetic variation affecting human gene expression', Physiol. Genomics, Vol. 16(2), p. 184-193.
-
(2004)
Physiol. Genomics
, vol.16
, Issue.2
, pp. 184-193
-
-
Pastinen, T.1
Sladek, R.2
Gurd, S.3
-
71
-
-
3042722019
-
'Evolutionary changes in cis and trans gene regulation'
-
Wittkopp, P. J., Haerum, B. K. and Clark, A. G. (2004), 'Evolutionary changes in cis and trans gene regulation', Nature, Vol. 430(6995), pp. 85-88.
-
(2004)
Nature
, vol.430
, Issue.6995
, pp. 85-88
-
-
Wittkopp, P.J.1
Haerum, B.K.2
Clark, A.G.3
-
72
-
-
0042359360
-
'Functional analysis of human promoter polymorphisms'
-
Hoogendoorn, B., Coleman, S. L., Guy, C. A. et al. (2003), 'Functional analysis of human promoter polymorphisms', Human Mol. Genet., Vol. 12(18), pp. 2249-2254.
-
(2003)
Human Mol. Genet.
, vol.12
, Issue.18
, pp. 2249-2254
-
-
Hoogendoorn, B.1
Coleman, S.L.2
Guy, C.A.3
-
73
-
-
3042824629
-
'Functional analysis of polymorphisms in the promoter regions of genes on 22q11'
-
Hoogendoorn, B., Coleman, S. L., Guy, C. A. et al. (2004), 'Functional analysis of polymorphisms in the promoter regions of genes on 22q11', Human Mutat., Vol. 24(1), pp. 35-42.
-
(2004)
Human Mutat.
, vol.24
, Issue.1
, pp. 35-42
-
-
Hoogendoorn, B.1
Coleman, S.L.2
Guy, C.A.3
-
74
-
-
2942562374
-
'A high proportion of chromosome 21 promoter polymorphisms influence transcriptional activity'
-
Buckland, P. R., Coleman, S. L., Hoogendoorn, B. et al. (2004), 'A high proportion of chromosome 21 promoter polymorphisms influence transcriptional activity', Gene Expr., Vol. 11(5-6), pp. 233-239.
-
(2004)
Gene Expr.
, vol.11
, Issue.5-6
, pp. 233-239
-
-
Buckland, P.R.1
Coleman, S.L.2
Hoogendoorn, B.3
-
75
-
-
3242891274
-
'ConSite: Web-based prediction of regulatory elements using cross-species comparison'
-
(web server issue)
-
Sandelin, A., Wasserman, W. W. and Lenhard, B. (2004), 'ConSite: Web-based prediction of regulatory elements using cross-species comparison', Nucleic Acids Res., Vol. 32 (web server issue), pp. W249-252.
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Sandelin, A.1
Wasserman, W.W.2
Lenhard, B.3
-
76
-
-
17244369446
-
-
URL
-
URL: http://www.phylofoot.org/consite/
-
-
-
-
77
-
-
3242885830
-
'PupaSNP Finder: A web tool for finding SNPs with putative effect at transcriptional level'
-
(web server issue)
-
Conde, L., Vaquerizas, J. M., Santoyo, J. et al. (2004), 'PupaSNP Finder: A web tool for finding SNPs with putative effect at transcriptional level', Nucleic Acids Res., Vol. 32 (web server issue), pp. W242-248.
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Conde, L.1
Vaquerizas, J.M.2
Santoyo, J.3
-
78
-
-
17244365557
-
-
URL
-
URL: http://pupasnp.bioinfo.cnio.es/
-
-
-
-
79
-
-
0037246683
-
'rSNP_Guide, a database system for analysis of transcription factor binding to DNA with variations: Application to genome annotation'
-
Ponomarenko, J. V., Merkulova, T. I., Orlova, G. V. et al. (2003), 'rSNP_Guide, a database system for analysis of transcription factor binding to DNA with variations: application to genome annotation', Nucleic Acids Res., Vol. 31(1), pp. 118-121.
-
(2003)
Nucleic Acids Res.
, vol.31
, Issue.1
, pp. 118-121
-
-
Ponomarenko, J.V.1
Merkulova, T.I.2
Orlova, G.V.3
-
80
-
-
17244369248
-
-
URL
-
URL: http://wwwmgs.bionet.nsc.ru/mgs/systems/rsnp/
-
-
-
-
81
-
-
18644368714
-
'The Bioperl toolkit: Perl modules for the life sciences'
-
Stajich, J. E., Block, D., Boulez, K. et al. (2002), 'The Bioperl toolkit: Perl modules for the life sciences', Genome Res. Vol. 12(10), pp. 1611-1618.
-
(2002)
Genome Res.
, vol.12
, Issue.10
, pp. 1611-1618
-
-
Stajich, J.E.1
Block, D.2
Boulez, K.3
-
82
-
-
17244361852
-
-
URL
-
URL: http://bio.perl.org/
-
-
-
-
83
-
-
0344464730
-
'Libsequence: A C++ class library for evolutionary genetic analysis'
-
Thornton, K. (2003), 'Libsequence: A C++ class library for evolutionary genetic analysis', Bioinformatics, Vol. 19(17), pp. 2325-2327.
-
(2003)
Bioinformatics
, vol.19
, Issue.17
, pp. 2325-2327
-
-
Thornton, K.1
-
84
-
-
0036024995
-
'Data mining of public SNP databases for the selection of intragenic SNPs'
-
Aerts, J., Welzels, Y., Cohen, N. and Aerssens, J. (2002), 'Data mining of public SNP databases for the selection of intragenic SNPs', Human Mutat., Vol. 20(3), pp. 162-173.
-
(2002)
Human Mutat.
, vol.20
, Issue.3
, pp. 162-173
-
-
Aerts, J.1
Welzels, Y.2
Cohen, N.3
Aerssens, J.4
-
85
-
-
13244265571
-
'Target SNP selection in complex disease association studies'
-
Wjst, M. (2004), 'Target SNP selection in complex disease association studies', BMC Bioinformatics, Vol. 5(92).
-
(2004)
BMC Bioinformatics
, vol.5
, Issue.92
-
-
Wjst, M.1
|