-
1
-
-
84857743319
-
Diagnosing the decline in pharmaceutical R&D efficiency
-
Scannell, J. W., Blanckley, A., Boldon, H. & Warrington, B. Diagnosing the decline in pharmaceutical R&D efficiency. Nature Rev. Drug Discov. 11, 191-200 (2012).
-
(2012)
Nature Rev. Drug Discov.
, vol.11
, pp. 191-200
-
-
Scannell, J.W.1
Blanckley, A.2
Boldon, H.3
Warrington, B.4
-
2
-
-
4344645978
-
Can the pharmaceutical industry reduce attrition rates?
-
Kola, I. & Landis, J. Can the pharmaceutical industry reduce attrition rates? Nature Rev. Drug Discov. 3, 711-715 (2004).
-
(2004)
Nature Rev. Drug Discov.
, vol.3
, pp. 711-715
-
-
Kola, I.1
Landis, J.2
-
3
-
-
77649234756
-
How to improve R&D productivity: The pharmaceutical industry's grand challenge
-
Paul, S. M. et al. How to improve R&D productivity: The pharmaceutical industry's grand challenge. Nature Rev. Drug Discov. 9, 203-214 (2010).
-
(2010)
Nature Rev. Drug Discov.
, vol.9
, pp. 203-214
-
-
Paul, S.M.1
-
4
-
-
79955601786
-
Trial watch: Phase II failures: 2008-2010
-
Arrowsmith, J. Trial watch: Phase II failures: 2008-2010. Nature Rev. Drug Discov. 10, 328-329 (2011).
-
(2011)
Nature Rev. Drug Discov.
, vol.10
, pp. 328-329
-
-
Arrowsmith, J.1
-
5
-
-
78650811196
-
Competitiveness in follow on drug R&D: A race or imitation?
-
DiMasi, J. A. & Faden, L. B. Competitiveness in follow on drug R&D: A race or imitation? Nature Rev. Drug Discov. 10, 23-27 (2011).
-
(2011)
Nature Rev. Drug Discov.
, vol.10
, pp. 23-27
-
-
DiMasi, J.A.1
Faden, L.B.2
-
6
-
-
67650069258
-
Assessing the translatability of drug projects: What needs to be scored to predict success?
-
Wehling, M. Assessing the translatability of drug projects: What needs to be scored to predict success? Nature Rev. Drug Discov. 8, 541-546 (2009).
-
(2009)
Nature Rev Drug Discov.
, vol.8
, pp. 541-546
-
-
Wehling, M.1
-
7
-
-
0031786224
-
The discovery and early use of cortisone
-
Glyn, J. The discovery and early use of cortisone. J. R. Soc. Med. 91, 513-517 (1998).
-
(1998)
J. R. Soc. Med.
, vol.91
, pp. 513-517
-
-
Glyn, J.1
-
9
-
-
0016153850
-
Expression of the familial hypercholesterolemia gene in heterozygotes: Mechanism for a dominant disorder in man
-
Brown, M. S. & Goldstein, J. L. Expression of the familial hypercholesterolemia gene in heterozygotes: Mechanism for a dominant disorder in man. Science 185, 61-63 (1974).
-
(1974)
Science
, vol.185
, pp. 61-63
-
-
Brown, M.S.1
Goldstein, J.L.2
-
10
-
-
0041743167
-
Monogenic hypercholesterolemia: New insights in pathogenesis and treatment
-
Rader, D. J., Cohen, J. & Hobbs, H. H. Monogenic hypercholesterolemia: New insights in pathogenesis and treatment. J. Clin. Invest. 111, 1795-1803 (2003).
-
(2003)
J. Clin. Invest.
, vol.111
, pp. 1795-1803
-
-
Rader, D.J.1
Cohen, J.2
Hobbs, H.H.3
-
11
-
-
0023009048
-
Therapeutic response to lovastatin (mevinolin) in nonfamilial hypercholesterolemia A multicenter study
-
The Lovastatin Study Group II.
-
The Lovastatin Study Group II. Therapeutic response to lovastatin (mevinolin) in nonfamilial hypercholesterolemia. A multicenter study. JAMA 256, 2829-2834 (1986).
-
(1986)
JAMA
, vol.256
, pp. 2829-2834
-
-
-
12
-
-
0037603589
-
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
-
Abifadel, M. et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nature Genet. 34, 154-156 (2003).
-
(2003)
Nature Genet.
, vol.34
, pp. 154-156
-
-
Abifadel, M.1
-
13
-
-
13944265645
-
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
-
Cohen, J. et al. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nature Genet. 37, 161-165 (2005).
-
(2005)
Nature Genet.
, vol.37
, pp. 161-165
-
-
Cohen, J.1
-
14
-
-
33344464808
-
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol
-
Kotowski, I. K. et al. A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am. J. Hum. Genet. 78, 410-422 (2006).
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 410-422
-
-
Kotowski, I.K.1
-
15
-
-
33645103550
-
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
-
Cohen, J. C., Boerwinkle, E., Mosley, T. H. Jr & Hobbs, H. H. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N. Engl. J. Med. 354, 1264-1272 (2006).
-
(2006)
N. Engl. J. Med.
, vol.354
, pp. 1264-1272
-
-
Cohen, J.C.1
Boerwinkle, E.2
Mosley Jr., T.H.3
Hobbs, H.H.4
-
16
-
-
9644266673
-
Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver
-
Park, S. W., Moon, Y. A. & Horton, J. D. Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver. J. Biol. Chem. 279, 50630-50638 (2004).
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 50630-50638
-
-
Park, S.W.1
Moon, Y.A.2
Horton, J.D.3
-
17
-
-
2342451128
-
Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype
-
Maxwell, K. N. & Breslow, J. L. Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype. Proc. Natl Acad. Sci. USA 101, 7100-7105 (2004).
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 7100-7105
-
-
Maxwell, K.N.1
Breslow, J.L.2
-
18
-
-
84863494422
-
Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: A phase 2 randomised controlled trial
-
Stein, E. A. et al. Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: A phase 2 randomised controlled trial. Lancet 380, 29-36 (2012).
-
(2012)
Lancet
, vol.380
, pp. 29-36
-
-
Stein, E.A.1
-
19
-
-
84858638369
-
Effect of a monoclonal antibody to PCSK9 on LDL cholesterol
-
Stein, E. A. et al. Effect of a monoclonal antibody to PCSK9 on LDL cholesterol. N. Engl. J. Med. 366, 1108-1118 (2012).
-
(2012)
N. Engl. J. Med.
, vol.366
, pp. 1108-1118
-
-
Stein, E.A.1
-
20
-
-
84872019062
-
Cholesterol-lowering blockbuster candidates speed into Phase III trials
-
Mullard, A. Cholesterol-lowering blockbuster candidates speed into Phase III trials. Nature Rev. Drug Discov. 11, 817-819 (2012).
-
(2012)
Nature Rev. Drug Discov.
, vol.11
, pp. 817-819
-
-
Mullard, A.1
-
21
-
-
38649132270
-
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
-
Kathiresan, S. et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nature Genet. 40, 189-197 (2008).
-
(2008)
Nature Genet.
, vol.40
, pp. 189-197
-
-
Kathiresan, S.1
-
22
-
-
84868552674
-
Will cholesteryl ester transfer protein inhibition succeed primarily by lowering low-density lipoprotein cholesterol?: Insights from human genetics and clinical trials
-
Kathiresan, S. Will cholesteryl ester transfer protein inhibition succeed primarily by lowering low-density lipoprotein cholesterol?: Insights from human genetics and clinical trials. J. Am. Coll. Cardiol. 60, 2049-2052 (2012).
-
(2012)
J. Am. Coll. Cardiol.
, vol.60
, pp. 2049-2052
-
-
Kathiresan, S.1
-
23
-
-
81755173362
-
Cholesteryl ester transfer protein inhibition to reduce cardiovascular risk: Where are we now?
-
Barter, P. & Rye, K. A. Cholesteryl ester transfer protein inhibition to reduce cardiovascular risk: Where are we now? Trends Pharmacol. Sci. 32, 694-699 (2011).
-
(2011)
Trends Pharmacol. Sci.
, vol.32
, pp. 694-699
-
-
Barter, P.1
Rye, K.A.2
-
24
-
-
34447265547
-
Torcetrapib and carotid intima-media thickness in mixed dyslipidaemia (RADIANCE 2 study): A randomised, double-blind trial
-
Bots, M. L. et al. Torcetrapib and carotid intima-media thickness in mixed dyslipidaemia (RADIANCE 2 study): A randomised, double-blind trial. Lancet 370, 153-160 (2007).
-
(2007)
Lancet
, vol.370
, pp. 153-160
-
-
Bots, M.L.1
-
25
-
-
84864845456
-
Plasma HDL cholesterol and risk of myocardial infarction: A mendelian randomisation study
-
Voight, B. F. et al. Plasma HDL cholesterol and risk of myocardial infarction: A mendelian randomisation study. Lancet 380, 572-580 (2012).
-
(2012)
Lancet
, vol.380
, pp. 572-580
-
-
Voight, B.F.1
-
26
-
-
0031718588
-
Clinical implications of cystic fibrosis transmembrane conductance regulator mutations
-
Mickle, J. E. & Cutting, G. R. Clinical implications of cystic fibrosis transmembrane conductance regulator mutations. Clin. Chest Med. 19, 443-458 (1998).
-
(1998)
Clin. Chest Med.
, vol.19
, pp. 443-458
-
-
Mickle, J.E.1
Cutting, G.R.2
-
27
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem, B. et al. Identification of the cystic fibrosis gene: Genetic analysis. Science 245, 1073-1080 (1989).
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
-
28
-
-
79952441604
-
An overview of international literature from cystic fibrosis registries Part 3 Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea
-
Salvatore, D. et al. An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea. J. Cyst. Fibros. 10, 71-85 (2011).
-
(2011)
J. Cyst. Fibros.
, vol.10
, pp. 71-85
-
-
Salvatore, D.1
-
29
-
-
80455162465
-
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
-
Ramsey, B. W. et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N. Engl. J. Med. 365, 1663-1672 (2011).
-
(2011)
N. Engl. J. Med.
, vol.365
, pp. 1663-1672
-
-
Ramsey, B.W.1
-
30
-
-
33845901486
-
An SCN9A channelopathy causes congenital inability to experience pain
-
Cox, J. J. et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature 444, 894-898 (2006).
-
(2006)
Nature
, vol.444
, pp. 894-898
-
-
Cox, J.J.1
-
31
-
-
12144288410
-
Mutations in SCN9A, encoding a sodium channel α subunit, in patients with primary erythermalgia
-
Yang, Y. et al. Mutations in SCN9A, encoding a sodium channel α subunit, in patients with primary erythermalgia. J. Med. Genet. 41, 171-174 (2004).
-
(2004)
J. Med. Genet.
, vol.41
, pp. 171-174
-
-
Yang, Y.1
-
32
-
-
20544476041
-
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels
-
Drenth, J. P. et al. SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. J. Invest. Dermatol. 124, 1333-1338 (2005).
-
(2005)
J. Invest. Dermatol.
, vol.124
, pp. 1333-1338
-
-
Drenth, J.P.1
-
33
-
-
33847168937
-
SCN9A mutations in paroxysmal extreme pain disorder: Allelic variants underlie distinct channel defects and phenotypes
-
Fertleman, C. R. et al. SCN9A mutations in paroxysmal extreme pain disorder: Allelic variants underlie distinct channel defects and phenotypes. Neuron 52, 767-774 (2006).
-
(2006)
Neuron
, vol.52
, pp. 767-774
-
-
Fertleman, C.R.1
-
34
-
-
58149154859
-
NaV1.7 gain of function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders
-
Estacion, M. et al. NaV1.7 gain of function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. J. Neurosci. 28, 11079-11088 (2008).
-
(2008)
J. Neurosci.
, vol.28
, pp. 11079-11088
-
-
Estacion, M.1
-
35
-
-
36849036949
-
Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders
-
Drenth, J. P. & Waxman, S. G. Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders. J. Clin. Invest. 117, 3603-3609 (2007).
-
(2007)
J. Clin. Invest.
, vol.117
, pp. 3603-3609
-
-
Drenth, J.P.1
Waxman, S.G.2
-
36
-
-
54349114035
-
ProTx II, a selective inhibitor of NaV1.7 sodium channels, blocks action potential propagation in nociceptors
-
Schmalhofer, W. A. et al. ProTx II, a selective inhibitor of NaV1.7 sodium channels, blocks action potential propagation in nociceptors. Mol. Pharmacol. 74, 1476-1484 (2008).
-
(2008)
Mol. Pharmacol.
, vol.74
, pp. 1476-1484
-
-
Schmalhofer, W.A.1
-
37
-
-
82455167007
-
Selective silencing of NaV1.7 decreases excitability and conduction in vagal sensory neurons
-
Muroi, Y. et al. Selective silencing of NaV1.7 decreases excitability and conduction in vagal sensory neurons. J. Physiol. 589, 5663-5676 (2011).
-
(2011)
J. Physiol.
, vol.589
, pp. 5663-5676
-
-
Muroi, Y.1
-
38
-
-
0034804745
-
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
-
Notarangelo, L. D. et al. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. Hum. Mutat. 18, 255-263 (2001).
-
(2001)
Hum. Mutat.
, vol.18
, pp. 255-263
-
-
Notarangelo, L.D.1
-
39
-
-
84864703156
-
Tofacitinib or adalimumab versus placebo in rheumatoid arthritis
-
van Vollenhoven, R. F. et al. Tofacitinib or adalimumab versus placebo in rheumatoid arthritis. N. Engl. J. Med. 367, 508-519 (2012).
-
(2012)
N. Engl. J. Med.
, vol.367
, pp. 508-519
-
-
Van Vollenhoven, R.F.1
-
40
-
-
84864716411
-
Placebo-controlled trial of tofacitinib monotherapy in rheumatoid arthritis
-
Fleischmann, R. et al. Placebo-controlled trial of tofacitinib monotherapy in rheumatoid arthritis. N. Engl. J. Med. 367, 495-507 (2012).
-
(2012)
N. Engl. J. Med.
, vol.367
, pp. 495-507
-
-
Fleischmann, R.1
-
41
-
-
0037373277
-
Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome
-
Neptune, E. R. et al. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nature Genet. 33, 407-411 (2003).
-
(2003)
Nature Genet.
, vol.33
, pp. 407-411
-
-
Neptune, E.R.1
-
42
-
-
79951521421
-
Progress and promise of genome-wide association studies for human complex trait genetics
-
Stranger, B. E., Stahl, E. A. & Raj, T. Progress and promise of genome-wide association studies for human complex trait genetics. Genetics 187, 367-383 (2011).
-
(2011)
Genetics
, vol.187
, pp. 367-383
-
-
Stranger, B.E.1
Stahl, E.A.2
Raj, T.3
-
43
-
-
84868336049
-
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
-
Jostins, L. et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491, 119-124 (2012).
-
(2012)
Nature
, vol.491
, pp. 119-124
-
-
Jostins, L.1
-
44
-
-
52949111858
-
Common variants at CD40 and other loci confer risk of rheumatoid arthritis
-
Raychaudhuri, S. et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nature Genet. 40, 1216-1223 (2008).
-
(2008)
Nature Genet.
, vol.40
, pp. 1216-1223
-
-
Raychaudhuri, S.1
-
45
-
-
84860317030
-
Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles
-
Fairfax, B. P. et al. Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles. Nature Genet. 44, 502-510 (2012).
-
(2012)
Nature Genet.
, vol.44
, pp. 502-510
-
-
Fairfax, B.P.1
-
46
-
-
80054975975
-
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
-
Rivas, M. A. et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nature Genet. 43, 1066-1073 (2011).
-
(2011)
Nature Genet.
, vol.43
, pp. 1066-1073
-
-
Rivas, M.A.1
-
47
-
-
77951926420
-
Etiology of type 1 diabetes
-
Todd, J. A. Etiology of type 1 diabetes. Immunity 32, 457-467 (2010).
-
(2010)
Immunity
, vol.32
, pp. 457-467
-
-
Todd, J.A.1
-
48
-
-
28144441356
-
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: Association of susceptibility with PTPN22, CTLA4, and PADI4
-
Plenge, R. M. et al. Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: Association of susceptibility with PTPN22, CTLA4, and PADI4. Am. J. Hum. Genet. 77, 1044-1060 (2005).
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 1044-1060
-
-
Plenge, R.M.1
-
49
-
-
84870531924
-
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis
-
Eyre, S. et al. High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nature Genet. 44, 1336-1340 (2012).
-
(2012)
Nature Genet.
, vol.44
, pp. 1336-1340
-
-
Eyre, S.1
-
50
-
-
50149117726
-
DNA polymorphisms at the BCL11A HBS1L MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
-
Lettre, G. et al. DNA polymorphisms at the BCL11A, HBS1L MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc. Natl Acad. Sci. USA 105, 11869-11874 (2008).
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 11869-11874
-
-
Lettre, G.1
-
51
-
-
40349092939
-
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia
-
Uda, M. et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia. Proc. Natl Acad. Sci. USA 105, 1620-1625 (2008).
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 1620-1625
-
-
Uda, M.1
-
52
-
-
34748864128
-
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
-
Menzel, S. et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nature Genet. 39, 1197-1199 (2007).
-
(2007)
Nature Genet.
, vol.39
, pp. 1197-1199
-
-
Menzel, S.1
-
53
-
-
0037673950
-
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
-
Eriksson, M. et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423, 293-298 (2003).
-
(2003)
Nature
, vol.423
, pp. 293-298
-
-
Eriksson, M.1
-
54
-
-
68849119046
-
Laminopathies and the long strange trip from basic cell biology to therapy
-
Worman, H. J., Fong, L. G., Muchir, A. & Young, S. G. Laminopathies and the long strange trip from basic cell biology to therapy. J. Clin. Invest. 119, 1825-1836 (2009).
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 1825-1836
-
-
Worman, H.J.1
Fong, L.G.2
Muchir, A.3
Young, S.G.4
-
55
-
-
10744229294
-
Lamin a truncation in hutchinson-gilford progeria
-
De Sandre-Giovannoli, A. et al. Lamin A truncation in Hutchinson-Gilford progeria. Science 300, 2055 (2003).
-
(2003)
Science
, vol.300
, pp. 2055
-
-
De Sandre-Giovannoli, A.1
-
56
-
-
84865076877
-
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: Update and pathological assessment
-
Usifo, E. et al. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: Update and pathological assessment. Ann. Hum. Genet. 76, 387-401 (2012).
-
(2012)
Ann. Hum. Genet.
, vol.76
, pp. 387-401
-
-
Usifo, E.1
-
57
-
-
0016359646
-
Steroid 5α reductase deficiency in man: An inherited form of male pseudohermaphroditism
-
Imperato-McGinley, J., Guerrero, L., Gautier, T. & Peterson, R. E. Steroid 5α reductase deficiency in man: An inherited form of male pseudohermaphroditism. Science 186, 1213-1215 (1974).
-
(1974)
Science
, vol.186
, pp. 1213-1215
-
-
Imperato-McGinley, J.1
Guerrero, L.2
Gautier, T.3
Peterson, R.E.4
-
58
-
-
0026055914
-
Deletion of steroid 5 α-reductase 2 gene in male pseudohermaphroditism
-
Andersson, S., Berman, D. M., Jenkins, E. P. & Russell, D. W. Deletion of steroid 5 α-reductase 2 gene in male pseudohermaphroditism. Nature 354, 159-161 (1991).
-
(1991)
Nature
, vol.354
, pp. 159-161
-
-
Andersson, S.1
Berman, D.M.2
Jenkins, E.P.3
Russell, D.W.4
-
60
-
-
84859638338
-
Use of genome-wide association studies for drug repositioning
-
Sanseau, P. et al. Use of genome-wide association studies for drug repositioning. Nature Biotech. 30, 317-320 (2012).
-
(2012)
Nature Biotech.
, vol.30
, pp. 317-320
-
-
Sanseau, P.1
-
61
-
-
55449105227
-
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13
-
Burkhardt, R. et al. Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. Arterioscler. Thromb. Vasc. Biol. 28, 2078-2084 (2008).
-
(2008)
Arterioscler. Thromb. Vasc. Biol.
, vol.28
, pp. 2078-2084
-
-
Burkhardt, R.1
-
62
-
-
0033624575
-
The common pparγ pro12ala polymorphism is associated with decreased risk of type 2 diabetes
-
Altshuler, D. et al. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genet. 26, 76-80 (2000).
-
(2000)
Nature Genet.
, vol.26
, pp. 76-80
-
-
Altshuler, D.1
-
63
-
-
84870512735
-
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
-
Tsoi, L. C. et al. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nature Genet. 44, 1341-1348 (2012).
-
(2012)
Nature Genet.
, vol.44
, pp. 1341-1348
-
-
Tsoi, L.C.1
-
64
-
-
84860331458
-
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
-
Estrada, K. et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genet. 44, 491-501 (2012).
-
(2012)
Nature Genet.
, vol.44
, pp. 491-501
-
-
Estrada, K.1
-
65
-
-
45949092534
-
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome
-
Brooke, B. S. et al. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N. Engl. J. Med. 358, 2787-2795 (2008).
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 2787-2795
-
-
Brooke, B.S.1
-
66
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
Klein, R. J. et al. Complement factor H polymorphism in age-related macular degeneration. Science 308, 385-389 (2005).
-
(2005)
Science
, vol.308
, pp. 385-389
-
-
Klein, R.J.1
-
67
-
-
33748309136
-
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration
-
Maller, J. et al. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nature Genet. 38, 1055-1059 (2006).
-
(2006)
Nature Genet.
, vol.38
, pp. 1055-1059
-
-
Maller, J.1
-
68
-
-
34748819371
-
Variation in complement factor 3 is associated with risk of age-related macular degeneration
-
Maller, J. B. et al. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nature Genet. 39, 1200-1201 (2007).
-
(2007)
Nature Genet.
, vol.39
, pp. 1200-1201
-
-
Maller, J.B.1
-
69
-
-
82255162545
-
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
-
Raychaudhuri, S. et al. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nature Genet. 43, 1232-1236 (2011).
-
(2011)
Nature Genet.
, vol.43
, pp. 1232-1236
-
-
Raychaudhuri, S.1
-
70
-
-
10744228553
-
Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria
-
Hillmen, P. et al. Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. N. Engl. J. Med. 350, 552-559 (2004).
-
(2004)
N. Engl. J. Med.
, vol.350
, pp. 552-559
-
-
Hillmen, P.1
-
71
-
-
84856633285
-
Therapeutic targeting of the complement system in age-related macular degeneration: A review
-
Troutbeck, R., Al Qureshi, S. & Guymer, R. H. Therapeutic targeting of the complement system in age-related macular degeneration: A review. Clin. Experiment. Ophthalmol. 40, 18-26 (2012).
-
(2012)
Clin. Experiment. Ophthalmol.
, vol.40
, pp. 18-26
-
-
Troutbeck, R.1
Al Qureshi, S.2
Guymer, R.H.3
-
72
-
-
84859786387
-
Inhibiting alternative pathway complement activation by targeting the factor D exosite
-
Katschke, K. J. Jr et al. Inhibiting alternative pathway complement activation by targeting the factor D exosite. J. Biol. Chem. 287, 12886-12892 (2012).
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 12886-12892
-
-
Katschke Jr., K.J.1
-
73
-
-
84859215358
-
The interleukin 6 receptor as a target for prevention of coronary heart disease: A mendelian randomisation analysis
-
Hingorani, A. D. & Casas, J. P. The interleukin 6 receptor as a target for prevention of coronary heart disease: A mendelian randomisation analysis. Lancet 379, 1214-1224 (2012).
-
(2012)
Lancet
, vol.379
, pp. 1214-1224
-
-
Hingorani, A.D.1
Casas, J.P.2
-
74
-
-
84864345963
-
Lighting the fires within: The cell biology of autoinflammatory diseases
-
Park, H., Bourla, A. B., Kastner, D. L., Colbert, R. A. & Siegel, R. M. Lighting the fires within: The cell biology of autoinflammatory diseases. Nature Rev. Immunol. 12, 570-580 (2012).
-
(2012)
Nature Rev. Immunol.
, vol.12
, pp. 570-580
-
-
Park, H.1
Bourla, A.B.2
Kastner, D.L.3
Colbert, R.A.4
Siegel, R.M.5
-
75
-
-
26944447533
-
Chemical genetics and orphan genetic diseases
-
Lunn, M. R. & Stockwell, B. R. Chemical genetics and orphan genetic diseases. Chem. Biol. 12, 1063-1073 (2005).
-
(2005)
Chem. Biol.
, vol.12
, pp. 1063-1073
-
-
Lunn, M.R.1
Stockwell, B.R.2
-
76
-
-
0344896685
-
A phase 1 trial of riluzole in spinal muscular atrophy
-
Russman, B. S., Iannaccone, S. T. & Samaha, F. J. A phase 1 trial of riluzole in spinal muscular atrophy. Arch. Neurol. 60, 1601-1603 (2003).
-
(2003)
Arch. Neurol.
, vol.60
, pp. 1601-1603
-
-
Russman, B.S.1
Iannaccone, S.T.2
Samaha, F.J.3
-
77
-
-
79251610530
-
Riluzole pharmacokinetics in young patients with spinal muscular atrophy
-
Abbara, C. et al. Riluzole pharmacokinetics in young patients with spinal muscular atrophy. Br. J. Clin. Pharmacol. 71, 403-410 (2011).
-
(2011)
Br. J. Clin. Pharmacol.
, vol.71
, pp. 403-410
-
-
Abbara, C.1
-
78
-
-
84864050619
-
Drug treatment for spinal muscular atrophy type I
-
Wadman, R. I. et al. Drug treatment for spinal muscular atrophy type I. Cochrane Database Syst. Rev. 4, CD006281 (2012).
-
(2012)
Cochrane Database Syst. Rev.
, vol.4
-
-
Wadman, R.I.1
-
79
-
-
77956044839
-
New therapeutic approaches to Mendelian disorders
-
Dietz, H. C. New therapeutic approaches to Mendelian disorders. N. Engl. J. Med. 363, 852-863 (2010).
-
(2010)
N. Engl. J. Med.
, vol.363
, pp. 852-863
-
-
Dietz, H.C.1
-
80
-
-
77953893282
-
Spinal muscular atrophy: Mechanisms and therapeutic strategies
-
Lorson, C. L., Rindt, H. & Shababi, M. Spinal muscular atrophy: Mechanisms and therapeutic strategies. Hum. Mol. Genet. 19, R111-R118 (2010).
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Lorson, C.L.1
Rindt, H.2
Shababi, M.3
-
81
-
-
0028200804
-
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
-
Melki, J. et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474-1477 (1994).
-
(1994)
Science
, vol.264
, pp. 1474-1477
-
-
Melki, J.1
-
82
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-165 (1995).
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
-
83
-
-
13144306071
-
Genome-wide association studies for common diseases and complex traits
-
Hirschhorn, J. N. & Daly, M. J. Genome-wide association studies for common diseases and complex traits. Nature Rev. Genet. 6, 95-108 (2005).
-
(2005)
Nature Rev. Genet.
, vol.6
, pp. 95-108
-
-
Hirschhorn, J.N.1
Daly, M.J.2
-
84
-
-
42349112088
-
Genome-wide association studies for complex traits: Consensus, uncertainty and challenges
-
McCarthy, M. I. et al. Genome-wide association studies for complex traits: Consensus, uncertainty and challenges. Nature Rev. Genet. 9, 356-369 (2008).
-
(2008)
Nature Rev. Genet.
, vol.9
, pp. 356-369
-
-
McCarthy, M.I.1
-
85
-
-
77952574849
-
Uncovering the roles of rare variants in common disease through whole-genome sequencing
-
Cirulli, E. T. & Goldstein, D. B. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nature Rev. Genet. 11, 415-425 (2010).
-
(2010)
Nature Rev. Genet.
, vol.11
, pp. 415-425
-
-
Cirulli, E.T.1
Goldstein, D.B.2
-
86
-
-
0028877463
-
Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
-
Lander, E. & Kruglyak, L. Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nature Genet. 11, 241-247 (1995).
-
(1995)
Nature Genet.
, vol.11
, pp. 241-247
-
-
Lander, E.1
Kruglyak, L.2
-
87
-
-
84863116742
-
A systematic survey of loss of function variants in human protein-coding genes
-
MacArthur, D. G. et al. A systematic survey of loss of function variants in human protein-coding genes. Science 335, 823-828 (2012).
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
-
88
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I. A. et al. A method and server for predicting damaging missense mutations. Nature Methods 7, 248-249 (2010).
-
(2010)
Nature Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
-
89
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar, P., Henikoff, S. & Ng, P. C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protoc. 4, 1073-1081 (2009).
-
(2009)
Nature Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
90
-
-
84864471159
-
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
-
Jonsson, T. et al. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature 488, 96-99 (2012).
-
(2012)
Nature
, vol.488
, pp. 96-99
-
-
Jonsson, T.1
-
91
-
-
84873454554
-
Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population
-
Kero, M. et al. Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population. Neurobiol. Aging 34, 1518.e1-1518.e3 (2013).
-
(2013)
Neurobiol. Aging
, vol.34
-
-
Kero, M.1
-
92
-
-
82255175640
-
What makes a good drug target?
-
Gashaw, I., Ellinghaus, P., Sommer, A. & Asadullah, K. What makes a good drug target? Drug Discov. Today 16, 1037-1043 (2011).
-
(2011)
Drug Discov. Today
, vol.16
, pp. 1037-1043
-
-
Gashaw, I.1
Ellinghaus, P.2
Sommer, A.3
Asadullah, K.4
-
93
-
-
1942443141
-
Commentary: Mendelian randomization, 18 years on
-
Katan, M. B. Commentary: Mendelian randomization, 18 years on. Int. J. Epidemiol. 33, 10-11 (2004).
-
(2004)
Int. J. Epidemiol.
, vol.33
, pp. 10-11
-
-
Katan, M.B.1
-
94
-
-
38949127024
-
Mendelian randomization: Can genetic epidemiology help redress the failures of observational epidemiology?
-
Ebrahim, S. & Davey Smith, G. Mendelian randomization: Can genetic epidemiology help redress the failures of observational epidemiology? Hum. Genet. 123, 15-33 (2008).
-
(2008)
Hum. Genet.
, vol.123
, pp. 15-33
-
-
Ebrahim, S.1
Davey Smith, G.2
-
95
-
-
58149163149
-
Common variants at 30 loci contribute to polygenic dyslipidemia
-
Kathiresan, S. et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nature Genet. 41, 56-65 (2009).
-
(2009)
Nature Genet.
, vol.41
, pp. 56-65
-
-
Kathiresan, S.1
-
96
-
-
84875448716
-
Phenotypic versus target-based drug discovery for first in class medicines
-
Swinney, D. C. Phenotypic versus target-based drug discovery for first in class medicines. Clin. Pharmacol. Ther. 93, 299-301 (2013).
-
(2013)
Clin. Pharmacol. Ther.
, vol.93
, pp. 299-301
-
-
Swinney, D.C.1
-
97
-
-
79851502150
-
Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology
-
Rossin, E. J. et al. Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genet. 7, e1001273 (2011).
-
(2011)
PLoS Genet
, vol.7
-
-
Rossin, E.J.1
-
98
-
-
84873086126
-
Chromatin marks identify critical cell types for fine mapping complex trait variants
-
Trynka, G. et al. Chromatin marks identify critical cell types for fine mapping complex trait variants. Nature Genet. 45, 124-130 (2013).
-
(2013)
Nature Genet.
, vol.45
, pp. 124-130
-
-
Trynka, G.1
-
99
-
-
78650373804
-
Network medicine: A network-based approach to human disease
-
Barabasi, A. L., Gulbahce, N. & Loscalzo, J. Network medicine: A network-based approach to human disease. Nature Rev. Genet. 12, 56-68 (2011).
-
(2011)
Nature Rev. Genet.
, vol.12
, pp. 56-68
-
-
Barabasi, A.L.1
Gulbahce, N.2
Loscalzo, J.3
-
100
-
-
64049085062
-
A network view of disease and compound screening
-
Schadt, E. E., Friend, S. H. & Shaywitz, D. A. A network view of disease and compound screening. Nature Rev. Drug Discov. 8, 286-295 (2009).
-
(2009)
Nature Rev. Drug Discov.
, vol.8
, pp. 286-295
-
-
Schadt, E.E.1
Friend, S.H.2
Shaywitz, D.A.3
-
101
-
-
84860333083
-
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
-
Stahl, E. A. et al. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nature Genet. 44, 483-489 (2012).
-
(2012)
Nature Genet.
, vol.44
, pp. 483-489
-
-
Stahl, E.A.1
-
102
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz, H. C. et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352, 337-339 (1991).
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.C.1
-
103
-
-
79959524146
-
A haplotype map of the human genome
-
International HapMap Consortium
-
International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
104
-
-
55449120805
-
Genetic mapping in human disease
-
Altshuler, D., Daly, M. J. & Lander, E. S. Genetic mapping in human disease. Science 322, 881-888 (2008).
-
(2008)
Science
, vol.322
, pp. 881-888
-
-
Altshuler, D.1
Daly, M.J.2
Lander, E.S.3
-
105
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff, L. A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA 106, 9362-9367 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
-
106
-
-
84862909349
-
Five years of GWAS discovery
-
Visscher, P. M., Brown, M. A., McCarthy, M. I. & Yang, J. Five years of GWAS discovery. Am. J. Hum. Genet. 90, 7-24 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 7-24
-
-
Visscher, P.M.1
Brown, M.A.2
McCarthy, M.I.3
Yang, J.4
-
107
-
-
77951439152
-
Trait-associated SNPs are more likely to be eQTLs: Annotation to enhance discovery from GWAS
-
Nicolae, D. L. et al. Trait-associated SNPs are more likely to be eQTLs: Annotation to enhance discovery from GWAS. PLoS Genet. 6, e1000888 (2010).
-
(2010)
PLoS Genet
, vol.6
-
-
Nicolae, D.L.1
-
108
-
-
67651205715
-
Identifying relationships among genomic disease regions: Predicting genes at pathogenic SNP associations and rare deletions
-
Raychaudhuri, S. et al. Identifying relationships among genomic disease regions: Predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet. 5, e1000534 (2009).
-
(2009)
PLoS Genet
, vol.5
-
-
Raychaudhuri, S.1
-
109
-
-
80053896562
-
Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets
-
Hu, X. et al. Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets. Am. J. Hum. Genet. 89, 496-506 (2011).
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 496-506
-
-
Hu, X.1
-
110
-
-
65249131713
-
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
-
Nejentsev, S., Walker, N., Riches, D., Egholm, M. & Todd, J. A. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324, 387-389 (2009).
-
(2009)
Science
, vol.324
, pp. 387-389
-
-
Nejentsev, S.1
Walker, N.2
Riches, D.3
Egholm, M.4
Todd, J.A.5
-
111
-
-
84878492072
-
Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway
-
Li, G. et al. Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway. PLoS Genet. 9, e1003487 (2013).
-
(2013)
PLoS Genet
, vol.9
-
-
Li, G.1
|