-
1
-
-
0034139722
-
Genetic variation in coronary heart disease and myocardial infarction: Methodological overview and clinical evidence
-
Winkelmann BR, Hager J (2000) Genetic variation in coronary heart disease and myocardial infarction: Methodological overview and clinical evidence. Pharmacogenomics 1(1):73-94.
-
(2000)
Pharmacogenomics
, vol.1
, Issue.1
, pp. 73-94
-
-
Winkelmann, B.R.1
Hager, J.2
-
2
-
-
2342458084
-
Sickle cell anemia, a molecular disease
-
Pauling L, et al. (1949) Sickle cell anemia, a molecular disease. Science 109(2835):443.
-
(1949)
Science
, vol.109
, Issue.2835
, pp. 443
-
-
Pauling, L.1
-
3
-
-
33745240931
-
A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region
-
Smyth DJ, et al. (2006) A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet 38(6):617-619.
-
(2006)
Nat Genet
, vol.38
, Issue.6
, pp. 617-619
-
-
Smyth, D.J.1
-
5
-
-
84860833500
-
Reorganizing the protein space at the Universal Protein Resource (UniProt)
-
Database issue
-
UniProt Consortium (2012) Reorganizing the protein space at the Universal Protein Resource (UniProt). Nucleic Acids Res 40(Database issue):D71-D75.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Consortium, U.1
-
6
-
-
79959991706
-
Deploying mutation impact text-mining software with the SADI Semantic Web Services framework
-
Riazanov A, Laurila JB, Baker CJ (2011) Deploying mutation impact text-mining software with the SADI Semantic Web Services framework. BMC Bioinformatics 12(Suppl 4):S6.
-
(2011)
BMC Bioinformatics
, vol.12
, Issue.SUPPL. 4
-
-
Riazanov, A.1
Laurila, J.B.2
Baker, C.J.3
-
7
-
-
84866461910
-
LocTree2 predicts localization for all domains of life
-
Goldberg T, Hamp T, Rost B (2012) LocTree2 predicts localization for all domains of life. Bioinformatics 28(18):i458-i465.
-
(2012)
Bioinformatics
, vol.28
, Issue.18
-
-
Goldberg, T.1
Hamp, T.2
Rost, B.3
-
8
-
-
34547100092
-
SNAP: Predict effect of non-synonymous polymorphisms on function
-
Bromberg Y, Rost B (2007) SNAP: Predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 35(11):3823-3835.
-
(2007)
Nucleic Acids Res
, vol.35
, Issue.11
, pp. 3823-3835
-
-
Bromberg, Y.1
Rost, B.2
-
9
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248-249.
-
(2010)
Nat Methods
, vol.7
, Issue.4
, pp. 248-249
-
-
Adzhubei, I.A.1
-
10
-
-
84870900036
-
Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing
-
1000 Genomes Project Consortium
-
Xue Y, et al.; 1000 Genomes Project Consortium (2012) Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet 91(6):1022-1032.
-
(2012)
Am J Hum Genet
, vol.91
, Issue.6
, pp. 1022-1032
-
-
Xue, Y.1
-
11
-
-
0029130141
-
Contamination of the genome by very slightly deleterious mutations: Why have we not died 100 times over?
-
Kondrashov AS (1995) Contamination of the genome by very slightly deleterious mutations: Why have we not died 100 times over? J Theor Biol 175(4):583-594.
-
(1995)
J Theor Biol
, vol.175
, Issue.4
, pp. 583-594
-
-
Kondrashov, A.S.1
-
12
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31(13):3812-3814.
-
(2003)
Nucleic Acids Res
, vol.31
, Issue.13
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
13
-
-
0028076771
-
Genetic studies of the lac repressor. XIV. Analysis of 4000 altered Escherichia coli lac repressors reveals essential and non-essential residues, as well as "spacers" which do not require a specific sequence
-
Markiewicz P, Kleina LG, Cruz C, Ehret S, Miller JH (1994) Genetic studies of the lac repressor. XIV. Analysis of 4000 altered Escherichia coli lac repressors reveals essential and non-essential residues, as well as "spacers" which do not require a specific sequence. J Mol Biol 240(5):421-433.
-
(1994)
J Mol Biol
, vol.240
, Issue.5
, pp. 421-433
-
-
Markiewicz, P.1
Kleina, L.G.2
Cruz, C.3
Ehret, S.4
Miller, J.H.5
-
14
-
-
0025955349
-
Systematic mutation of bacteriophage T4 lysozyme
-
Rennell D, Bouvier SE, Hardy LW, Poteete AR (1991) Systematic mutation of bacteriophage T4 lysozyme. J Mol Biol 222(1):67-88.
-
(1991)
J Mol Biol
, vol.222
, Issue.1
, pp. 67-88
-
-
Rennell, D.1
Bouvier, S.E.2
Hardy, L.W.3
Poteete, A.R.4
-
15
-
-
84859173067
-
Must try harder
-
(2012) Must try harder. Nature 483(7391):509.
-
(2012)
Nature
, vol.483
, Issue.7391
, pp. 509
-
-
-
16
-
-
33748945709
-
Point mutations in protein globular domains: Contributions from function, stability and misfolding
-
Sánchez IE, Tejero J, Gómez-Moreno C, Medina M, Serrano L (2006) Point mutations in protein globular domains: Contributions from function, stability and misfolding. J Mol Biol 363(2):422-432.
-
(2006)
J Mol Biol
, vol.363
, Issue.2
, pp. 422-432
-
-
Sánchez, I.E.1
Tejero, J.2
Gómez-Moreno, C.3
Medina, M.4
Serrano, L.5
-
17
-
-
0035065485
-
SNPs, protein structure, and disease
-
Wang Z, Moult J (2001) SNPs, protein structure, and disease. Hum Mutat 17(4): 263-270.
-
(2001)
Hum Mutat
, vol.17
, Issue.4
, pp. 263-270
-
-
Wang, Z.1
Moult, J.2
-
18
-
-
0029998762
-
A point mutation in exon 3 (His 107->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement
-
Soda H, et al. (1996) A point mutation in exon 3 (His 107->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement. Hum Genet 97(4):435-437.
-
(1996)
Hum Genet
, vol.97
, Issue.4
, pp. 435-437
-
-
Soda, H.1
-
19
-
-
0027413292
-
Kinetic analysis of a mutant (His107->Tyr) responsible for human carbonic anhydrase II deficiency syndrome
-
Tu C, Couton JM, Van Heeke G, Richards NG, Silverman DN (1993) Kinetic analysis of a mutant (His107->Tyr) responsible for human carbonic anhydrase II deficiency syndrome. J Biol Chem 268(7):4775-4779.
-
(1993)
J Biol Chem
, vol.268
, Issue.7
, pp. 4775-4779
-
-
Tu, C.1
Couton, J.M.2
Van Heeke, G.3
Richards, N.G.4
Silverman, D.N.5
-
20
-
-
69549111112
-
Correlating protein function and stability through the analysis of single amino acid substitutions
-
Bromberg Y, Rost B (2009) Correlating protein function and stability through the analysis of single amino acid substitutions. BMC Bioinformatics 10(Suppl 8):S8.
-
(2009)
BMC Bioinformatics
, vol.10
, Issue.SUPPL. 8
-
-
Bromberg, Y.1
Rost, B.2
-
21
-
-
84868036294
-
Disease-related mutations predicted to impact protein function
-
Schaefer C, Bromberg Y, Achten D, Rost B (2012) Disease-related mutations predicted to impact protein function. BMC Genomics 13(Suppl 4):S11.
-
(2012)
BMC Genomics
, vol.13
, Issue.SUPPL. 4
-
-
Schaefer, C.1
Bromberg, Y.2
Achten, D.3
Rost, B.4
-
22
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
Abecasis GR, et al.; 1000 Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing. Nature 467(7319):1061-1073.
-
(2010)
Nature
, vol.467
, Issue.7319
, pp. 1061-1073
-
-
Abecasis, G.R.1
-
23
-
-
79959503826
-
The international hapmap project
-
International HapMap Consortium (2003) The International HapMap Project. Nature 426(6968):789-796.
-
(2003)
Nature
, vol.426
, Issue.6968
, pp. 789-796
-
-
Hapmap Consortium, I.1
-
24
-
-
84857186752
-
SNPdbe: Constructing an nsSNP functional impacts database
-
Schaefer C, Meier A, Rost B, Bromberg Y (2012) SNPdbe: Constructing an nsSNP functional impacts database. Bioinformatics 28(4):601-602.
-
(2012)
Bioinformatics
, vol.28
, Issue.4
, pp. 601-602
-
-
Schaefer, C.1
Meier, A.2
Rost, B.3
Bromberg, Y.4
-
25
-
-
84861618864
-
Exome sequencing and the genetic basis of complex traits
-
Kiezun A, et al. (2012) Exome sequencing and the genetic basis of complex traits. Nat Genet 44(6):623-630.
-
(2012)
Nat Genet
, vol.44
, Issue.6
, pp. 623-630
-
-
Kiezun, A.1
-
26
-
-
0032574805
-
The role of robustness and changeability on the origin and evolution of genetic codes
-
Maeshiro T, Kimura M (1998) The role of robustness and changeability on the origin and evolution of genetic codes. Proc Natl Acad Sci USA 95(9):5088-5093.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, Issue.9
, pp. 5088-5093
-
-
Maeshiro, T.1
Kimura, M.2
-
27
-
-
0142135398
-
The case for an error minimizing standard genetic code
-
Freeland SJ, Wu T, Keulmann N (2003) The case for an error minimizing standard genetic code. Orig Life Evol Biosph 33(4-5):457-477.
-
(2003)
Orig Life Evol Biosph
, vol.33
, Issue.4-5
, pp. 457-477
-
-
Freeland, S.J.1
Wu, T.2
Keulmann, N.3
-
28
-
-
0034924997
-
Positive and negative selection on the human genome
-
Fay JC, Wyckoff GJ, Wu CI (2001) Positive and negative selection on the human genome. Genetics 158(3):1227-1234.
-
(2001)
Genetics
, vol.158
, Issue.3
, pp. 1227-1234
-
-
Fay, J.C.1
Wyckoff, G.J.2
Wu, C.I.3
-
29
-
-
27144539145
-
Natural selection on protein-coding genes in the human genome
-
Bustamante CD, et al. (2005) Natural selection on protein-coding genes in the human genome. Nature 437(7062):1153-1157.
-
(2005)
Nature
, vol.437
, Issue.7062
, pp. 1153-1157
-
-
Bustamante, C.D.1
-
30
-
-
84872143942
-
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
-
NHLBI Exome Sequencing Project
-
Fu W, et al.; NHLBI Exome Sequencing Project (2013) Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493(7431):216-220.
-
(2013)
Nature
, vol.493
, Issue.7431
, pp. 216-220
-
-
Fu, W.1
-
31
-
-
0001525977
-
The average number of generations until fixation of a mutant gene in a finite population
-
Kimura M, Ohta T (1969) The average number of generations until fixation of a mutant gene in a finite population. Genetics 61(3):763-771.
-
(1969)
Genetics
, vol.61
, Issue.3
, pp. 763-771
-
-
Kimura, M.1
Ohta, T.2
-
32
-
-
0002726649
-
A consistently well behaved method of interpolation
-
Stineman RW (1980) A consistently well behaved method of interpolation. Creative Computing 6(7):54-57.
-
(1980)
Creative Computing
, vol.6
, Issue.7
, pp. 54-57
-
-
Stineman, R.W.1
|