-
1
-
-
63449100039
-
Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE): Design of prospective metaanalyses of genome-wide association studies
-
Psaty BM, ODonnell CJ, Gudnason V, et al. Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE): design of prospective metaanalyses of genome-wide association studies. Circ Cardiovasc Genet 2009; 2:73-80.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 73-80
-
-
Psaty, B.M.1
Odonnell, C.J.2
Gudnason, V.3
-
2
-
-
77955505564
-
Biological, clinical, and population relevance of 95 loci mapped for serum lipid concentrations
-
Teslovich TM, Musununu K, Smith AV, et al. Biological, clinical, and population relevance of 95 loci mapped for serum lipid concentrations. Nature 2010; 466:707-713.
-
(2010)
Nature
, vol.466
, pp. 707-713
-
-
Teslovich, T.M.1
Musununu, K.2
Smith, A.V.3
-
3
-
-
77957947562
-
Hundreds of variants influence human height and cluster within genomic loci and biological pathways
-
Lango Allen H, Estrada K, Lettre G, et al. Hundreds of variants influence human height and cluster within genomic loci and biological pathways. Nature 2010; 467:832-838.
-
(2010)
Nature
, vol.467
, pp. 832-838
-
-
Lango Allen, H.1
Estrada, K.2
Lettre, G.3
-
4
-
-
78049337953
-
Association analyses of 249 796 individuals reveals 18 new loci associated with body mass index
-
Speliotes EK, Willer CJ, Berndt SI, et al. Association analyses of 249 796 individuals reveals 18 new loci associated with body mass index. Nat Genet 2010; 42:937-948.
-
(2010)
Nat Genet
, vol.42
, pp. 937-948
-
-
Speliotes, E.K.1
Willer, C.J.2
Berndt, S.I.3
-
5
-
-
84155163079
-
Genome-wide association study for coronary artery calcium with follow-up in myocardial infarction
-
ODonnell CJ, Kavousi M, Smith AV, et al. Genome-wide association study for coronary artery calcium with follow-up in myocardial infarction. Circulation 2011; 124:2855-2864.
-
(2011)
Circulation
, vol.124
, pp. 2855-2864
-
-
Odonnell, C.J.1
Kavousi, M.2
Smith, A.V.3
-
6
-
-
79953204259
-
Large-scale association analysis identified 13 new susceptiblity loci for coronary artery disease
-
Schunkert H, Konig IR, Kathiresan S, et al. Large-scale association analysis identified 13 new susceptiblity loci for coronary artery disease. Nat Genet 2011; 43:333-338.
-
(2011)
Nat Genet
, vol.43
, pp. 333-338
-
-
Schunkert, H.1
Konig, I.R.2
Kathiresan, S.3
-
8
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011; 12:745-755.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
-
9
-
-
84887099827
-
Discovery and refinement of loci associated with lipid levels
-
Global Lipids Genetics Consortium.
-
Global Lipids Genetics Consortium. Willer CJ, Schmidt EM, Sengupta S, et al. Discovery and refinement of loci associated with lipid levels. Nat Genet 2013; 45:1274-1283.
-
(2013)
Nat Genet
, vol.45
, pp. 1274-1283
-
-
Willer, C.J.1
Schmidt, E.M.2
Sengupta, S.3
-
10
-
-
49949088790
-
Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER
-
Polisecki E, Muallem H, Maeda N, et al. Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER. Atherosclerosis 2008; 200:109-114.
-
(2008)
Atherosclerosis
, vol.200
, pp. 109-114
-
-
Polisecki, E.1
Muallem, H.2
Maeda, N.3
-
11
-
-
57149124098
-
A paucimorphic variant in the HMGCoA reductase gene is associated with lipid-lowering response to statin treatment in diabetes: A GoDARTS study
-
Donnelly LA, Doney AS, Dannfald J, et al. A paucimorphic variant in the HMGCoA reductase gene is associated with lipid-lowering response to statin treatment in diabetes: a GoDARTS study. Pharmacogenet Genomics 2008; 18:1021-1026.
-
(2008)
Pharmacogenet Genomics
, vol.18
, pp. 1021-1026
-
-
Donnelly, L.A.1
Doney, A.S.2
Dannfald, J.3
-
12
-
-
77953962940
-
Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin
-
Mangravite LM, Medina MW, Cui J, et al. Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin. Arterioscler Thromb Vasc Biol 2010; 30:1485-1492.
-
(2010)
Arterioscler Thromb Vasc Biol
, vol.30
, pp. 1485-1492
-
-
Mangravite, L.M.1
Medina, M.W.2
Cui, J.3
-
13
-
-
84921493092
-
HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: Evidence from genetic analysis and randomised trials
-
Swerdlow DI, Preiss D, Kuchenbaecker KB, et al. HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials. Lancet 2015; 385:24-30.
-
(2015)
Lancet
, vol.385
, pp. 24-30
-
-
Swerdlow, D.I.1
Preiss, D.2
Kuchenbaecker, K.B.3
-
14
-
-
84865822182
-
Systematic localization of common disease-Associated variation in regulatory DNA
-
Maurano MT, Humbert R, Rynes E, et al. Systematic localization of common disease-Associated variation in regulatory DNA. Science 2012; 337:1190-1195.
-
(2012)
Science
, vol.337
, pp. 1190-1195
-
-
Maurano, M.T.1
Humbert, R.2
Rynes, E.3
-
15
-
-
84899633396
-
Defining functional DNA elements in the human genome
-
Kellis M, Wold B, Snyder MP, et al. Defining functional DNA elements in the human genome. Proc Natl Acad Sci U S A 2014; 111:6131-6138.
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, pp. 6131-6138
-
-
Kellis, M.1
Wold, B.2
Snyder, M.P.3
-
16
-
-
77955499945
-
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
-
Musunuru K, Strong A, Frank-Kamenetsky M, et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 2010; 466:714-719.
-
(2010)
Nature
, vol.466
, pp. 714-719
-
-
Musunuru, K.1
Strong, A.2
Frank-Kamenetsky, M.3
-
17
-
-
14244262377
-
Compound heterozygosity for two nonsynonymous polymorphisms in NPC1L1 in a nonresponder to ezetimibe
-
Wang J, Williams CM, Hegele RA. Compound heterozygosity for two nonsynonymous polymorphisms in NPC1L1 in a nonresponder to ezetimibe. Clin Genet 2005; 67:175-177.
-
(2005)
Clin Genet
, vol.67
, pp. 175-177
-
-
Wang, J.1
Williams, C.M.2
Hegele, R.A.3
-
18
-
-
0037603589
-
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
-
Abifadel M, Varret M, Rabes JP, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003; 34:154-156.
-
(2003)
Nat Genet
, vol.34
, pp. 154-156
-
-
Abifadel, M.1
Varret, M.2
Rabes, J.P.3
-
19
-
-
84877597698
-
Simple genetics for a complex disease
-
Cohen JC, Hobbs HH. Simple genetics for a complex disease. Science 2013; 340:689-690.
-
(2013)
Science
, vol.340
, pp. 689-690
-
-
Cohen, J.C.1
Hobbs, H.H.2
-
20
-
-
70849119927
-
Apolipoprotein e genotype, plasma cholesterol, and cancer: A Mendelian randomization study
-
Trompet S, Jekema JW, Katan MB, et al. Apolipoprotein e genotype, plasma cholesterol, and cancer: a Mendelian randomization study. Am J Epidemiol 2009; 170:1415-1421.
-
(2009)
Am J Epidemiol
, vol.170
, pp. 1415-1421
-
-
Trompet, S.1
Jekema, J.W.2
Katan, M.B.3
-
21
-
-
84864845456
-
Plasma HDL cholesterol and risk for myocardial infarction: A Mendelian randomization study
-
Voight BF, Peloso GM, Orho-Melander M, et al. Plasma HDL cholesterol and risk for myocardial infarction: a Mendelian randomization study. Lancet 2012; 380:572-580.
-
(2012)
Lancet
, vol.380
, pp. 572-580
-
-
Voight, B.F.1
Peloso, G.M.2
Orho-Melander, M.3
-
22
-
-
78649755576
-
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
-
Musunuru K, Pirruccello JP, Do R, et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med 2010; 363:2220-2227.
-
(2010)
N Engl J Med
, vol.363
, pp. 2220-2227
-
-
Musunuru, K.1
Pirruccello, J.P.2
Do, R.3
-
23
-
-
84888201938
-
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia
-
Stitziel NO, Fouchier SW, Sjouke B, et al. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol 2013; 33:2909-2914.
-
(2013)
Arterioscler Thromb Vasc Biol
, vol.33
, pp. 2909-2914
-
-
Stitziel, N.O.1
Fouchier, S.W.2
Sjouke, B.3
-
24
-
-
84905437783
-
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
-
Futema M, Plagnol V, Li K, et al. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet 2014; 51:537-544.
-
(2014)
J Med Genet
, vol.51
, pp. 537-544
-
-
Futema, M.1
Plagnol, V.2
Li, K.3
-
25
-
-
84890308141
-
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia
-
Rosenthal EA, Ranchalis J, Crosslin DR, et al. Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. Am J Hum Genet 2013; 93:1035-1045.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 1035-1045
-
-
Rosenthal, E.A.1
Ranchalis, J.2
Crosslin, D.R.3
-
26
-
-
84893720400
-
Whole-Exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol
-
Lange LA, Hu Y, Zhang H, et al. Whole-Exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet 2014; 94:233-245.
-
(2014)
Am J Hum Genet
, vol.94
, pp. 233-245
-
-
Lange, L.A.1
Hu, Y.2
Zhang, H.3
-
27
-
-
84857641121
-
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia
-
Noto D, Cefalu AB, Valenti V, et al. Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. Arterioscler Thromb Vasc Biol 2012; 32:805-809.
-
(2012)
Arterioscler Thromb Vasc Biol
, vol.32
, pp. 805-809
-
-
Noto, D.1
Cefalu, A.B.2
Valenti, V.3
-
28
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
-
Li B1, Leal SM. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 2008; 83:311-321.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
29
-
-
80051499915
-
Rare-variant association testing for sequencing data with the sequence kernel association test
-
Wu MC, Lee S, Cai T, et al. Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet 2011; 89:82-93.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 82-93
-
-
Wu, M.C.1
Lee, S.2
Cai, T.3
-
30
-
-
84903727023
-
Loss-of-function Mutations in APOC3, Triglycerides, and Coronary Disease
-
TG and HDL Working Group of the Exome Sequencing Project
-
TG and HDL Working Group of the Exome Sequencing Project. Crosby J, Peloso GM, Auer PL, et al. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med 2014; 371:22-31.
-
(2014)
N Engl J Med
, vol.371
, pp. 22-31
-
-
Crosby, J.1
Peloso, G.M.2
Auer, P.L.3
-
32
-
-
84876167878
-
Use of low-Density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study
-
Talmud PJ, Shah S, Whittall R, et al. Use of low-Density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 2013; 381:1293-1301.
-
(2013)
Lancet
, vol.381
, pp. 1293-1301
-
-
Talmud, P.J.1
Shah, S.2
Whittall, R.3
-
33
-
-
84893756641
-
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56 000 whites and blacks
-
Peloso GM, Auer PL, Bis JC, et al. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56 000 whites and blacks. Am J Hum Genet 2014; 94:223-232.
-
(2014)
Am J Hum Genet
, vol.94
, pp. 223-232
-
-
Peloso, G.M.1
Auer, P.L.2
Bis, J.C.3
-
34
-
-
84898058547
-
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk
-
Holmen OL, Zhang H, Fan Y, et al. Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk. Nat Genet 2014; 46:345-351.
-
(2014)
Nat Genet
, vol.46
, pp. 345-351
-
-
Holmen, O.L.1
Zhang, H.2
Fan, Y.3
-
35
-
-
38649125868
-
Newly identified loci that influence lipid concentrations and risk for coronary artery disease
-
Willer CJ, Sanna S, Jackson AU, et al. Newly identified loci that influence lipid concentrations and risk for coronary artery disease. Nat Genet 2008; 40:161-169.
-
(2008)
Nat Genet
, vol.40
, pp. 161-169
-
-
Willer, C.J.1
Sanna, S.2
Jackson, A.U.3
-
36
-
-
84898058711
-
Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to noalcoholic fatty liver disease
-
Kozlitina J, Smagris E, Stender S, et al. Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to noalcoholic fatty liver disease. Nat Genet 2014; 46:352-356.
-
(2014)
Nat Genet
, vol.46
, pp. 352-356
-
-
Kozlitina, J.1
Smagris, E.2
Stender, S.3
-
37
-
-
84890690821
-
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates
-
Tachmazidou I, Dedoussis G, Southam L, et al. A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates. Nat Commun 2013; 4:2872.
-
(2013)
Nat Commun
, vol.4
, pp. 2872
-
-
Tachmazidou, I.1
Dedoussis, G.2
Southam, L.3
-
38
-
-
58149262866
-
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection
-
Pollin TI, Damcott CM, Shen H, et al. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science 2008; 322:1702-1705.
-
(2008)
Science
, vol.322
, pp. 1702-1705
-
-
Pollin, T.I.1
Damcott, C.M.2
Shen, H.3
|