-
1
-
-
0037603589
-
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
-
M. Abifadel, M. Varret, J.P. Rabs, D. Allard, K. Ouguerram, M. Devillers, C. Cruaud, S. Benjannet, L. Wickham, and D. Erlich Mutations in PCSK9 cause autosomal dominant hypercholesterolemia Nat. Genet. 34 2003 154 156
-
(2003)
Nat. Genet.
, vol.34
, pp. 154-156
-
-
Abifadel, M.1
Varret, M.2
Rabs, J.P.3
Allard, D.4
Ouguerram, K.5
Devillers, M.6
Cruaud, C.7
Benjannet, S.8
Wickham, L.9
Erlich, D.10
-
3
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
M.J. Bamshad, S.B. Ng, A.W. Bigham, H.K. Tabor, M.J. Emond, D.A. Nickerson, and J. Shendure Exome sequencing as a tool for Mendelian disease gene discovery Nat. Rev. Genet. 12 2011 745 755
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
Tabor, H.K.4
Emond, M.J.5
Nickerson, D.A.6
Shendure, J.7
-
4
-
-
0030636780
-
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
-
C.T. Basson, D.R. Bachinsky, R.C. Lin, T. Levi, J.A. Elkins, J. Soults, D. Grayzel, E. Kroumpouzou, T.A. Traill, and J. Leblanc-Straceski Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome Nat. Genet. 15 1997 30 35
-
(1997)
Nat. Genet.
, vol.15
, pp. 30-35
-
-
Basson, C.T.1
Bachinsky, D.R.2
Lin, R.C.3
Levi, T.4
Elkins, J.A.5
Soults, J.6
Grayzel, D.7
Kroumpouzou, E.8
Traill, T.A.9
Leblanc-Straceski, J.10
-
5
-
-
17744390348
-
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
-
K.E. Berge, H. Tian, G.A. Graf, L. Yu, N.V. Grishin, J. Schultz, P. Kwiterovich, B. Shan, R. Barnes, and H.H. Hobbs Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters Science 290 2000 1771 1775
-
(2000)
Science
, vol.290
, pp. 1771-1775
-
-
Berge, K.E.1
Tian, H.2
Graf, G.A.3
Yu, L.4
Grishin, N.V.5
Schultz, J.6
Kwiterovich, P.7
Shan, B.8
Barnes, R.9
Hobbs, H.H.10
-
6
-
-
0028886136
-
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
-
G. Bonne, L. Carrier, J. Bercovici, C. Cruaud, P. Richard, B. Hainque, M. Gautel, S. Labeit, M. James, and J. Beckmann Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy Nat. Genet. 11 1995 438 440
-
(1995)
Nat. Genet.
, vol.11
, pp. 438-440
-
-
Bonne, G.1
Carrier, L.2
Bercovici, J.3
Cruaud, C.4
Richard, P.5
Hainque, B.6
Gautel, M.7
Labeit, S.8
James, M.9
Beckmann, J.10
-
7
-
-
84856431125
-
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
-
L.M. Boyden, M. Choi, K.A. Choate, C.J. Nelson-Williams, A. Farhi, H.R. Toka, I.R. Tikhonova, R. Bjornson, S.M. Mane, and G. Colussi Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities Nature 482 2012 98 102
-
(2012)
Nature
, vol.482
, pp. 98-102
-
-
Boyden, L.M.1
Choi, M.2
Choate, K.A.3
Nelson-Williams, C.J.4
Farhi, A.5
Toka, H.R.6
Tikhonova, I.R.7
Bjornson, R.8
Mane, S.M.9
Colussi, G.10
-
8
-
-
76749151845
-
Prediction of drug-induced cardiotoxicity using human embryonic stem cell-derived cardiomyocytes
-
S.R. Braam, L. Tertoolen, A. van de Stolpe, T. Meyer, R. Passier, and C.L. Mummery Prediction of drug-induced cardiotoxicity using human embryonic stem cell-derived cardiomyocytes Stem Cell Res. (Amst.) 4 2010 107 116
-
(2010)
Stem Cell Res. (Amst.)
, vol.4
, pp. 107-116
-
-
Braam, S.R.1
Tertoolen, L.2
Van De Stolpe, A.3
Meyer, T.4
Passier, R.5
Mummery, C.L.6
-
9
-
-
0022549920
-
A receptor-mediated pathway for cholesterol homeostasis
-
M.S. Brown, and J.L. Goldstein A receptor-mediated pathway for cholesterol homeostasis Science 232 1986 34 47
-
(1986)
Science
, vol.232
, pp. 34-47
-
-
Brown, M.S.1
Goldstein, J.L.2
-
10
-
-
17944378083
-
A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease
-
B.G. Bruneau, G. Nemer, J.P. Schmitt, F. Charron, L. Robitaille, S. Caron, D.A. Conner, M. Gessler, M. Nemer, C.E. Seidman, and J.G. Seidman A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease Cell 106 2001 709 721
-
(2001)
Cell
, vol.106
, pp. 709-721
-
-
Bruneau, B.G.1
Nemer, G.2
Schmitt, J.P.3
Charron, F.4
Robitaille, L.5
Caron, S.6
Conner, D.A.7
Gessler, M.8
Nemer, M.9
Seidman, C.E.10
Seidman, J.G.11
-
11
-
-
78649874589
-
Trib1 is a lipid- and myocardial infarction-associated gene that regulates hepatic lipogenesis and VLDL production in mice
-
R. Burkhardt, S.A. Toh, W.R. Lagor, A. Birkeland, M. Levin, X. Li, M. Robblee, V.D. Fedorov, M. Yamamoto, and T. Satoh Trib1 is a lipid- and myocardial infarction-associated gene that regulates hepatic lipogenesis and VLDL production in mice J. Clin. Invest. 120 2010 4410 4414
-
(2010)
J. Clin. Invest.
, vol.120
, pp. 4410-4414
-
-
Burkhardt, R.1
Toh, S.A.2
Lagor, W.R.3
Birkeland, A.4
Levin, M.5
Li, X.6
Robblee, M.7
Fedorov, V.D.8
Yamamoto, M.9
Satoh, T.10
-
12
-
-
79953221100
-
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
-
C4D (Coronary Artery Disease Genetic Consortium)
-
C4D (Coronary Artery Disease Genetic Consortium) A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease Nat. Genet. 43 2011 339 344
-
(2011)
Nat. Genet.
, vol.43
, pp. 339-344
-
-
-
14
-
-
0027161005
-
Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11
-
L. Carrier, C. Hengstenberg, J.S. Beckmann, P. Guicheney, C. Dufour, J. Bercovici, E. Dausse, I. Berebbi-Bertrand, C. Wisnewsky, and D. Pulvenis Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11 Nat. Genet. 4 1993 311 313
-
(1993)
Nat. Genet.
, vol.4
, pp. 311-313
-
-
Carrier, L.1
Hengstenberg, C.2
Beckmann, J.S.3
Guicheney, P.4
Dufour, C.5
Bercovici, J.6
Dausse, E.7
Berebbi-Bertrand, I.8
Wisnewsky, C.9
Pulvenis, D.10
-
15
-
-
77953443251
-
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
-
X. Carvajal-Vergara, A. Sevilla, S.L. D'Souza, Y.S. Ang, C. Schaniel, D.F. Lee, L. Yang, A.D. Kaplan, E.D. Adler, and R. Rozov Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome Nature 465 2010 808 812
-
(2010)
Nature
, vol.465
, pp. 808-812
-
-
Carvajal-Vergara, X.1
Sevilla, A.2
D'Souza, S.L.3
Ang, Y.S.4
Schaniel, C.5
Lee, D.F.6
Yang, L.7
Kaplan, A.D.8
Adler, E.D.9
Rozov, R.10
-
16
-
-
13344295074
-
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
-
S.S. Chang, S. Grunder, A. Hanukoglu, A. Rösler, P.M. Mathew, I. Hanukoglu, L. Schild, Y. Lu, R.A. Shimkets, and C. Nelson-Williams Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1 Nat. Genet. 12 1996 248 253
-
(1996)
Nat. Genet.
, vol.12
, pp. 248-253
-
-
Chang, S.S.1
Grunder, S.2
Hanukoglu, A.3
Rösler, A.4
Mathew, P.M.5
Hanukoglu, I.6
Schild, L.7
Lu, Y.8
Shimkets, R.A.9
Nelson-Williams, C.10
-
17
-
-
0032546384
-
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
-
Q. Chen, G.E. Kirsch, D. Zhang, R. Brugada, J. Brugada, P. Brugada, D. Potenza, A. Moya, M. Borggrefe, and G. Breithardt Genetic basis and molecular mechanism for idiopathic ventricular fibrillation Nature 392 1998 293 296
-
(1998)
Nature
, vol.392
, pp. 293-296
-
-
Chen, Q.1
Kirsch, G.E.2
Zhang, D.3
Brugada, R.4
Brugada, J.5
Brugada, P.6
Potenza, D.7
Moya, A.8
Borggrefe, M.9
Breithardt, G.10
-
18
-
-
79951506090
-
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension
-
M. Choi, U.I. Scholl, P. Yue, P. Björklund, B. Zhao, C. Nelson-Williams, W. Ji, Y. Cho, A. Patel, and C.J. Men K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension Science 331 2011 768 772
-
(2011)
Science
, vol.331
, pp. 768-772
-
-
Choi, M.1
Scholl, U.I.2
Yue, P.3
Björklund, P.4
Zhao, B.5
Nelson-Williams, C.6
Ji, W.7
Cho, Y.8
Patel, A.9
Men, C.J.10
-
19
-
-
73549097512
-
Genetic variants associated with Lp(a) lipoprotein level and coronary disease
-
PROCARDIS Consortium
-
R. Clarke, J.F. Peden, J.C. Hopewell, T. Kyriakou, A. Goel, S.C. Heath, S. Parish, S. Barlera, M.G. Franzosi, S. Rust PROCARDIS Consortium Genetic variants associated with Lp(a) lipoprotein level and coronary disease N. Engl. J. Med. 361 2009 2518 2528
-
(2009)
N. Engl. J. Med.
, vol.361
, pp. 2518-2528
-
-
Clarke, R.1
Peden, J.F.2
Hopewell, J.C.3
Kyriakou, T.4
Goel, A.5
Heath, S.C.6
Parish, S.7
Barlera, S.8
Franzosi, M.G.9
Rust, S.10
-
20
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
J.C. Cohen, R.S. Kiss, A. Pertsemlidis, Y.L. Marcel, R. McPherson, and H.H. Hobbs Multiple rare alleles contribute to low plasma levels of HDL cholesterol Science 305 2004 869 872
-
(2004)
Science
, vol.305
, pp. 869-872
-
-
Cohen, J.C.1
Kiss, R.S.2
Pertsemlidis, A.3
Marcel, Y.L.4
McPherson, R.5
Hobbs, H.H.6
-
21
-
-
33645103550
-
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
-
J.C. Cohen, E. Boerwinkle, T.H. Mosley Jr., and H.H. Hobbs Sequence variations in PCSK9, low LDL, and protection against coronary heart disease N. Engl. J. Med. 354 2006 1264 1272
-
(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
-
22
-
-
0028914969
-
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
-
M.E. Curran, I. Splawski, K.W. Timothy, G.M. Vincent, E.D. Green, and M.T. Keating A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome Cell 80 1995 795 803
-
(1995)
Cell
, vol.80
, pp. 795-803
-
-
Curran, M.E.1
Splawski, I.2
Timothy, K.W.3
Vincent, G.M.4
Green, E.D.5
Keating, M.T.6
-
23
-
-
0037322022
-
'Mendelian randomization': Can genetic epidemiology contribute to understanding environmental determinants of disease?
-
G. Davey Smith, and S. Ebrahim 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease? Int. J. Epidemiol. 32 2003 1 22
-
(2003)
Int. J. Epidemiol.
, vol.32
, pp. 1-22
-
-
Davey Smith, G.1
Ebrahim, S.2
-
24
-
-
77956044839
-
New therapeutic approaches to mendelian disorders
-
H.C. Dietz New therapeutic approaches to mendelian disorders N. Engl. J. Med. 363 2010 852 863
-
(2010)
N. Engl. J. Med.
, vol.363
, pp. 852-863
-
-
Dietz, H.C.1
-
25
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
H.C. Dietz, G.R. Cutting, R.E. Pyeritz, C.L. Maslen, L.Y. Sakai, G.M. Corson, E.G. Puffenberger, A. Hamosh, E.J. Nanthakumar, and S.M. Curristin Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene Nature 352 1991 337 339
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, G.R.2
Pyeritz, R.E.3
Maslen, C.L.4
Sakai, L.Y.5
Corson, G.M.6
Puffenberger, E.G.7
Hamosh, A.8
Nanthakumar, E.J.9
Curristin, S.M.10
-
26
-
-
67649961412
-
Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease
-
P. Elliott, J.C. Chambers, W. Zhang, R. Clarke, J.C. Hopewell, J.F. Peden, J. Erdmann, P. Braund, J.C. Engert, and D. Bennett Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease JAMA 302 2009 37 48
-
(2009)
JAMA
, vol.302
, pp. 37-48
-
-
Elliott, P.1
Chambers, J.C.2
Zhang, W.3
Clarke, R.4
Hopewell, J.C.5
Peden, J.F.6
Erdmann, J.7
Braund, P.8
Engert, J.C.9
Bennett, D.10
-
27
-
-
61349177857
-
New susceptibility locus for coronary artery disease on chromosome 3q22.3
-
Italian Atherosclerosis, Thrombosis, and Vascular Biology Working Group Myocardial Infarction Genetics Consortium Wellcome Trust Case Control Consortium Cardiogenics Consortium
-
J. Erdmann, A. Grosshennig, P.S. Braund, I.R. König, C. Hengstenberg, A.S. Hall, P. Linsel-Nitschke, S. Kathiresan, B. Wright, D.A. Trégouët Italian Atherosclerosis, Thrombosis, and Vascular Biology Working Group Myocardial Infarction Genetics Consortium Wellcome Trust Case Control Consortium Cardiogenics Consortium New susceptibility locus for coronary artery disease on chromosome 3q22.3 Nat. Genet. 41 2009 280 282
-
(2009)
Nat. Genet.
, vol.41
, pp. 280-282
-
-
Erdmann, J.1
Grosshennig, A.2
Braund, P.S.3
König, I.R.4
Hengstenberg, C.5
Hall, A.S.6
Linsel-Nitschke, P.7
Kathiresan, S.8
Wright, B.9
Trégouët, D.A.10
-
28
-
-
79955583542
-
Mapping and analysis of chromatin state dynamics in nine human cell types
-
J. Ernst, P. Kheradpour, T.S. Mikkelsen, N. Shoresh, L.D. Ward, C.B. Epstein, X. Zhang, L. Wang, R. Issner, and M. Coyne Mapping and analysis of chromatin state dynamics in nine human cell types Nature 473 2011 43 49
-
(2011)
Nature
, vol.473
, pp. 43-49
-
-
Ernst, J.1
Kheradpour, P.2
Mikkelsen, T.S.3
Shoresh, N.4
Ward, L.D.5
Epstein, C.B.6
Zhang, X.7
Wang, L.8
Issner, R.9
Coyne, M.10
-
29
-
-
34548232284
-
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: An international study
-
L. Faivre, G. Collod-Beroud, B.L. Loeys, A. Child, C. Binquet, E. Gautier, B. Callewaert, E. Arbustini, K. Mayer, and M. Arslan-Kirchner Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study Am. J. Hum. Genet. 81 2007 454 466
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 454-466
-
-
Faivre, L.1
Collod-Beroud, G.2
Loeys, B.L.3
Child, A.4
Binquet, C.5
Gautier, E.6
Callewaert, B.7
Arbustini, E.8
Mayer, K.9
Arslan-Kirchner, M.10
-
30
-
-
0035906961
-
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
-
C.K. Garcia, K. Wilund, M. Arca, G. Zuliani, R. Fellin, M. Maioli, S. Calandra, S. Bertolini, F. Cossu, and N. Grishin Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein Science 292 2001 1394 1398
-
(2001)
Science
, vol.292
, pp. 1394-1398
-
-
Garcia, C.K.1
Wilund, K.2
Arca, M.3
Zuliani, G.4
Fellin, R.5
Maioli, M.6
Calandra, S.7
Bertolini, S.8
Cossu, F.9
Grishin, N.10
-
31
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
V. Garg, I.S. Kathiriya, R. Barnes, M.K. Schluterman, I.N. King, C.A. Butler, C.R. Rothrock, R.S. Eapen, K. Hirayama-Yamada, and K. Joo GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 Nature 424 2003 443 447
-
(2003)
Nature
, vol.424
, pp. 443-447
-
-
Garg, V.1
Kathiriya, I.S.2
Barnes, R.3
Schluterman, M.K.4
King, I.N.5
Butler, C.A.6
Rothrock, C.R.7
Eapen, R.S.8
Hirayama-Yamada, K.9
Joo, K.10
-
32
-
-
24644467759
-
Mutations in NOTCH1 cause aortic valve disease
-
V. Garg, A.N. Muth, J.F. Ransom, M.K. Schluterman, R. Barnes, I.N. King, P.D. Grossfeld, and D. Srivastava Mutations in NOTCH1 cause aortic valve disease Nature 437 2005 270 274
-
(2005)
Nature
, vol.437
, pp. 270-274
-
-
Garg, V.1
Muth, A.N.2
Ransom, J.F.3
Schluterman, M.K.4
Barnes, R.5
King, I.N.6
Grossfeld, P.D.7
Srivastava, D.8
-
33
-
-
0025040392
-
A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation
-
A.A. Geisterfer-Lowrance, S. Kass, G. Tanigawa, H.P. Vosberg, W. McKenna, C.E. Seidman, and J.G. Seidman A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation Cell 62 1990 999 1006
-
(1990)
Cell
, vol.62
, pp. 999-1006
-
-
Geisterfer-Lowrance, A.A.1
Kass, S.2
Tanigawa, G.3
Vosberg, H.P.4
McKenna, W.5
Seidman, C.E.6
Seidman, J.G.7
-
34
-
-
79952225388
-
RAS signaling pathway mutations and hypertrophic cardiomyopathy: Getting into and out of the thick of it
-
B.D. Gelb, and M. Tartaglia RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it J. Clin. Invest. 121 2011 844 847
-
(2011)
J. Clin. Invest.
, vol.121
, pp. 844-847
-
-
Gelb, B.D.1
Tartaglia, M.2
-
35
-
-
0031861245
-
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type i
-
D.S. Geller, J. Rodriguez-Soriano, A. Vallo Boado, S. Schifter, M. Bayer, S.S. Chang, and R.P. Lifton Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I Nat. Genet. 19 1998 279 281
-
(1998)
Nat. Genet.
, vol.19
, pp. 279-281
-
-
Geller, D.S.1
Rodriguez-Soriano, J.2
Vallo Boado, A.3
Schifter, S.4
Bayer, M.5
Chang, S.S.6
Lifton, R.P.7
-
36
-
-
0034617130
-
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy
-
D.S. Geller, A. Farhi, N. Pinkerton, M. Fradley, M. Moritz, A. Spitzer, G. Meinke, F.T. Tsai, P.B. Sigler, and R.P. Lifton Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy Science 289 2000 119 123
-
(2000)
Science
, vol.289
, pp. 119-123
-
-
Geller, D.S.1
Farhi, A.2
Pinkerton, N.3
Fradley, M.4
Moritz, M.5
Spitzer, A.6
Meinke, G.7
Tsai, F.T.8
Sigler, P.B.9
Lifton, R.P.10
-
37
-
-
83055161438
-
New gene functions in megakaryopoiesis and platelet formation
-
C. Gieger, A. Radhakrishnan, A. Cvejic, W. Tang, E. Porcu, G. Pistis, J. Serbanovic-Canic, U. Elling, A.H. Goodall, and Y. Labrune New gene functions in megakaryopoiesis and platelet formation Nature 480 2011 201 208
-
(2011)
Nature
, vol.480
, pp. 201-208
-
-
Gieger, C.1
Radhakrishnan, A.2
Cvejic, A.3
Tang, W.4
Porcu, E.5
Pistis, G.6
Serbanovic-Canic, J.7
Elling, U.8
Goodall, A.H.9
Labrune, Y.10
-
38
-
-
0025765054
-
How to avoid bias when comparing bone marrow transplantation with chemotherapy
-
R. Gray, and K. Wheatley How to avoid bias when comparing bone marrow transplantation with chemotherapy Bone Marrow Transplant. 7 1991 9 12
-
(1991)
Bone Marrow Transplant.
, vol.7
, pp. 9-12
-
-
Gray, R.1
Wheatley, K.2
-
39
-
-
61349089164
-
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
-
D.F. Gudbjartsson, U.S. Bjornsdottir, E. Halapi, A. Helgadottir, P. Sulem, G.M. Jonsdottir, G. Thorleifsson, H. Helgadottir, V. Steinthorsdottir, and H. Stefansson Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction Nat. Genet. 41 2009 342 347
-
(2009)
Nat. Genet.
, vol.41
, pp. 342-347
-
-
Gudbjartsson, D.F.1
Bjornsdottir, U.S.2
Halapi, E.3
Helgadottir, A.4
Sulem, P.5
Jonsdottir, G.M.6
Thorleifsson, G.7
Helgadottir, H.8
Steinthorsdottir, V.9
Stefansson, H.10
-
40
-
-
0029092801
-
Hypertension caused by a truncated epithelial sodium channel gamma subunit: Genetic heterogeneity of Liddle syndrome
-
J.H. Hansson, C. Nelson-Williams, H. Suzuki, L. Schild, R. Shimkets, Y. Lu, C. Canessa, T. Iwasaki, B. Rossier, and R.P. Lifton Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome Nat. Genet. 11 1995 76 82
-
(1995)
Nat. Genet.
, vol.11
, pp. 76-82
-
-
Hansson, J.H.1
Nelson-Williams, C.2
Suzuki, H.3
Schild, L.4
Shimkets, R.5
Lu, Y.6
Canessa, C.7
Iwasaki, T.8
Rossier, B.9
Lifton, R.P.10
-
41
-
-
79951473520
-
9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response
-
O. Harismendy, D. Notani, X. Song, N.G. Rahim, B. Tanasa, N. Heintzman, B. Ren, X.D. Fu, E.J. Topol, M.G. Rosenfeld, and K.A. Frazer 9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response Nature 470 2011 264 268
-
(2011)
Nature
, vol.470
, pp. 264-268
-
-
Harismendy, O.1
Notani, D.2
Song, X.3
Rahim, N.G.4
Tanasa, B.5
Heintzman, N.6
Ren, B.7
Fu, X.D.8
Topol, E.J.9
Rosenfeld, M.G.10
Frazer, K.A.11
-
42
-
-
34250010480
-
A common variant on chromosome 9p21 affects the risk of myocardial infarction
-
A. Helgadottir, G. Thorleifsson, A. Manolescu, S. Gretarsdottir, T. Blondal, A. Jonasdottir, A. Jonasdottir, A. Sigurdsson, A. Baker, and A. Palsson A common variant on chromosome 9p21 affects the risk of myocardial infarction Science 316 2007 1491 1493
-
(2007)
Science
, vol.316
, pp. 1491-1493
-
-
Helgadottir, A.1
Thorleifsson, G.2
Manolescu, A.3
Gretarsdottir, S.4
Blondal, T.5
Jonasdottir, A.6
Jonasdottir, A.7
Sigurdsson, A.8
Baker, A.9
Palsson, A.10
-
43
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
L.A. Hindorff, P. Sethupathy, H.A. Junkins, E.M. Ramos, J.P. Mehta, F.S. Collins, and T.A. Manolio Potential etiologic and functional implications of genome-wide association loci for human diseases and traits Proc. Natl. Acad. Sci. USA 106 2009 9362 9367
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
Ramos, E.M.4
Mehta, J.P.5
Collins, F.S.6
Manolio, T.A.7
-
44
-
-
0024348038
-
Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors
-
H.H. Hobbs, E. Leitersdorf, C.C. Leffert, D.R. Cryer, M.S. Brown, and J.L. Goldstein Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors J. Clin. Invest. 84 1989 656 664
-
(1989)
J. Clin. Invest.
, vol.84
, pp. 656-664
-
-
Hobbs, H.H.1
Leitersdorf, E.2
Leffert, C.C.3
Cryer, D.R.4
Brown, M.S.5
Goldstein, J.L.6
-
45
-
-
84856136800
-
Recent studies of the human chromosome 9p21 locus, which is associated with atherosclerosis in human populations
-
L.M. Holdt, and D. Teupser Recent studies of the human chromosome 9p21 locus, which is associated with atherosclerosis in human populations Arterioscler. Thromb. Vasc. Biol. 32 2012 196 206
-
(2012)
Arterioscler. Thromb. Vasc. Biol.
, vol.32
, pp. 196-206
-
-
Holdt, L.M.1
Teupser, D.2
-
46
-
-
80053452394
-
Large-scale gene-centric analysis identifies novel variants for coronary artery disease
-
IBC 50K CAD Consortium
-
IBC 50K CAD Consortium Large-scale gene-centric analysis identifies novel variants for coronary artery disease PLoS Genet. 7 2011 e1002260
-
(2011)
PLoS Genet.
, vol.7
, pp. 1002260
-
-
-
47
-
-
77955321344
-
Direct reprogramming of fibroblasts into functional cardiomyocytes by defined factors
-
M. Ieda, J.D. Fu, P. Delgado-Olguin, V. Vedantham, Y. Hayashi, B.G. Bruneau, and D. Srivastava Direct reprogramming of fibroblasts into functional cardiomyocytes by defined factors Cell 142 2010 375 386
-
(2010)
Cell
, vol.142
, pp. 375-386
-
-
Ieda, M.1
Fu, J.D.2
Delgado-Olguin, P.3
Vedantham, V.4
Hayashi, Y.5
Bruneau, B.G.6
Srivastava, D.7
-
48
-
-
79952446402
-
Modelling the long QT syndrome with induced pluripotent stem cells
-
I. Itzhaki, L. Maizels, I. Huber, L. Zwi-Dantsis, O. Caspi, A. Winterstern, O. Feldman, A. Gepstein, G. Arbel, and H. Hammerman Modelling the long QT syndrome with induced pluripotent stem cells Nature 471 2011 225 229
-
(2011)
Nature
, vol.471
, pp. 225-229
-
-
Itzhaki, I.1
Maizels, L.2
Huber, I.3
Zwi-Dantsis, L.4
Caspi, O.5
Winterstern, A.6
Feldman, O.7
Gepstein, A.8
Arbel, G.9
Hammerman, H.10
-
49
-
-
0024426784
-
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1
-
J.A. Jarcho, W. McKenna, J.A. Pare, S.D. Solomon, R.F. Holcombe, S. Dickie, T. Levi, H. Donis-Keller, J.G. Seidman, and C.E. Seidman Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1 N. Engl. J. Med. 321 1989 1372 1378
-
(1989)
N. Engl. J. Med.
, vol.321
, pp. 1372-1378
-
-
Jarcho, J.A.1
McKenna, W.2
Pare, J.A.3
Solomon, S.D.4
Holcombe, R.F.5
Dickie, S.6
Levi, T.7
Donis-Keller, H.8
Seidman, J.G.9
Seidman, C.E.10
-
50
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
W. Ji, J.N. Foo, B.J. O'Roak, H. Zhao, M.G. Larson, D.B. Simon, C. Newton-Cheh, M.W. State, D. Levy, and R.P. Lifton Rare independent mutations in renal salt handling genes contribute to blood pressure variation Nat. Genet. 40 2008 592 599
-
(2008)
Nat. Genet.
, vol.40
, pp. 592-599
-
-
Ji, W.1
Foo, J.N.2
O'Roak, B.J.3
Zhao, H.4
Larson, M.G.5
Simon, D.B.6
Newton-Cheh, C.7
State, M.W.8
Levy, D.9
Lifton, R.P.10
-
51
-
-
77955070766
-
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia
-
C.T. Johansen, J. Wang, M.B. Lanktree, H. Cao, A.D. McIntyre, M.R. Ban, R.A. Martins, B.A. Kennedy, R.G. Hassell, and M.E. Visser Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia Nat. Genet. 42 2010 684 687
-
(2010)
Nat. Genet.
, vol.42
, pp. 684-687
-
-
Johansen, C.T.1
Wang, J.2
Lanktree, M.B.3
Cao, H.4
McIntyre, A.D.5
Ban, M.R.6
Martins, R.A.7
Kennedy, B.A.8
Hassell, R.G.9
Visser, M.E.10
-
52
-
-
67049167090
-
Genetically elevated lipoprotein(a) and increased risk of myocardial infarction
-
P.R. Kamstrup, A. Tybjaerg-Hansen, R. Steffensen, and B.G. Nordestgaard Genetically elevated lipoprotein(a) and increased risk of myocardial infarction JAMA 301 2009 2331 2339
-
(2009)
JAMA
, vol.301
, pp. 2331-2339
-
-
Kamstrup, P.R.1
Tybjaerg-Hansen, A.2
Steffensen, R.3
Nordestgaard, B.G.4
-
53
-
-
72949132104
-
Factors of risk in the development of coronary heart disease - Six year follow-up experience. The Framingham Study
-
W.B. Kannel, T.R. Dawber, A. Kagan, N. Revotskie, and J. Stokes III Factors of risk in the development of coronary heart disease - six year follow-up experience. The Framingham Study Ann. Intern. Med. 55 1961 33 50
-
(1961)
Ann. Intern. Med.
, vol.55
, pp. 33-50
-
-
Kannel, W.B.1
Dawber, T.R.2
Kagan, A.3
Revotskie, N.4
Stokes Iii, J.5
-
54
-
-
0022656494
-
Apolipoprotein e isoforms, serum cholesterol, and cancer
-
M.B. Katan Apolipoprotein E isoforms, serum cholesterol, and cancer Lancet 1 1986 507 508
-
(1986)
Lancet
, vol.1
, pp. 507-508
-
-
Katan, M.B.1
-
55
-
-
38649132270
-
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
-
S. Kathiresan, O. Melander, C. Guiducci, A. Surti, N.P. Burtt, M.J. Rieder, G.M. Cooper, C. Roos, B.F. Voight, and A.S. Havulinna Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans Nat. Genet. 40 2008 189 197
-
(2008)
Nat. Genet.
, vol.40
, pp. 189-197
-
-
Kathiresan, S.1
Melander, O.2
Guiducci, C.3
Surti, A.4
Burtt, N.P.5
Rieder, M.J.6
Cooper, G.M.7
Roos, C.8
Voight, B.F.9
Havulinna, A.S.10
-
56
-
-
70749096913
-
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
-
Myocardial Infarction Genetics Consortium Wellcome Trust Case Control Consortium
-
S. Kathiresan, B.F. Voight, S. Purcell, K. Musunuru, D. Ardissino, P.M. Mannucci, S. Anand, J.C. Engert, N.J. Samani, H. Schunkert Myocardial Infarction Genetics Consortium Wellcome Trust Case Control Consortium Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants Nat. Genet. 41 2009 334 341
-
(2009)
Nat. Genet.
, vol.41
, pp. 334-341
-
-
Kathiresan, S.1
Voight, B.F.2
Purcell, S.3
Musunuru, K.4
Ardissino, D.5
Mannucci, P.M.6
Anand, S.7
Engert, J.C.8
Samani, N.J.9
Schunkert, H.10
-
57
-
-
58149163149
-
Common variants at 30 loci contribute to polygenic dyslipidemia
-
S. Kathiresan, C.J. Willer, G.M. Peloso, S. Demissie, K. Musunuru, E.E. Schadt, L. Kaplan, D. Bennett, Y. Li, and T. Tanaka Common variants at 30 loci contribute to polygenic dyslipidemia Nat. Genet. 41 2009 56 65
-
(2009)
Nat. Genet.
, vol.41
, pp. 56-65
-
-
Kathiresan, S.1
Willer, C.J.2
Peloso, G.M.3
Demissie, S.4
Musunuru, K.5
Schadt, E.E.6
Kaplan, L.7
Bennett, D.8
Li, Y.9
Tanaka, T.10
-
58
-
-
0030765610
-
Mutations in the cardiac troponin i gene associated with hypertrophic cardiomyopathy
-
A. Kimura, H. Harada, J.E. Park, H. Nishi, M. Satoh, M. Takahashi, S. Hiroi, T. Sasaoka, N. Ohbuchi, and T. Nakamura Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy Nat. Genet. 16 1997 379 382
-
(1997)
Nat. Genet.
, vol.16
, pp. 379-382
-
-
Kimura, A.1
Harada, H.2
Park, J.E.3
Nishi, H.4
Satoh, M.5
Takahashi, M.6
Hiroi, S.7
Sasaoka, T.8
Ohbuchi, N.9
Nakamura, T.10
-
59
-
-
34147116715
-
Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
-
G.V. Kryukov, L.A. Pennacchio, and S.R. Sunyaev Most rare missense alleles are deleterious in humans: implications for complex disease and association studies Am. J. Hum. Genet. 80 2007 727 739
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 727-739
-
-
Kryukov, G.V.1
Pennacchio, L.A.2
Sunyaev, S.R.3
-
60
-
-
62649084535
-
Power of deep, all-exon resequencing for discovery of human trait genes
-
G.V. Kryukov, A. Shpunt, J.A. Stamatoyannopoulos, and S.R. Sunyaev Power of deep, all-exon resequencing for discovery of human trait genes Proc. Natl. Acad. Sci. USA 106 2009 3871 3876
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 3871-3876
-
-
Kryukov, G.V.1
Shpunt, A.2
Stamatoyannopoulos, J.A.3
Sunyaev, S.R.4
-
61
-
-
0021918948
-
Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains
-
M.A. Lehrman, W.J. Schneider, T.C. Südhof, M.S. Brown, J.L. Goldstein, and D.W. Russell Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains Science 227 1985 140 146
-
(1985)
Science
, vol.227
, pp. 140-146
-
-
Lehrman, M.A.1
Schneider, W.J.2
Südhof, T.C.3
Brown, M.S.4
Goldstein, J.L.5
Russell, D.W.6
-
62
-
-
80053385386
-
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1
-
S.A. Lemaire, M.L. McDonald, D.C. Guo, L. Russell, C.C. Miller III, R.J. Johnson, M.R. Bekheirnia, L.M. Franco, M. Nguyen, and R.E. Pyeritz Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1 Nat. Genet. 43 2011 996 1000
-
(2011)
Nat. Genet.
, vol.43
, pp. 996-1000
-
-
Lemaire, S.A.1
McDonald, M.L.2
Guo, D.C.3
Russell, L.4
Miller Iii, C.C.5
Johnson, R.J.6
Bekheirnia, M.R.7
Franco, L.M.8
Nguyen, M.9
Pyeritz, R.E.10
-
63
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
-
B. Li, and S.M. Leal Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data Am. J. Hum. Genet. 83 2008 311 321
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
64
-
-
0026580019
-
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
-
R.P. Lifton, R.G. Dluhy, M. Powers, G.M. Rich, S. Cook, S. Ulick, and J.M. Lalouel A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension Nature 355 1992 262 265
-
(1992)
Nature
, vol.355
, pp. 262-265
-
-
Lifton, R.P.1
Dluhy, R.G.2
Powers, M.3
Rich, G.M.4
Cook, S.5
Ulick, S.6
Lalouel, J.M.7
-
65
-
-
0026919361
-
Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase
-
R.P. Lifton, R.G. Dluhy, M. Powers, G.M. Rich, M. Gutkin, F. Fallo, J.R. Gill Jr., L. Feld, A. Ganguly, and J.C. Laidlaw Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase Nat. Genet. 2 1992 66 74
-
(1992)
Nat. Genet.
, vol.2
, pp. 66-74
-
-
Lifton, R.P.1
Dluhy, R.G.2
Powers, M.3
Rich, G.M.4
Gutkin, M.5
Fallo, F.6
Gill, Jr.J.R.7
Feld, L.8
Ganguly, A.9
Laidlaw, J.C.10
-
66
-
-
0035936780
-
Molecular mechanisms of human hypertension
-
R.P. Lifton, A.G. Gharavi, and D.S. Geller Molecular mechanisms of human hypertension Cell 104 2001 545 556
-
(2001)
Cell
, vol.104
, pp. 545-556
-
-
Lifton, R.P.1
Gharavi, A.G.2
Geller, D.S.3
-
67
-
-
0035263599
-
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
-
E.A. Lindsay, F. Vitelli, H. Su, M. Morishima, T. Huynh, T. Pramparo, V. Jurecic, G. Ogunrinu, H.F. Sutherland, and P.J. Scambler Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice Nature 410 2001 97 101
-
(2001)
Nature
, vol.410
, pp. 97-101
-
-
Lindsay, E.A.1
Vitelli, F.2
Su, H.3
Morishima, M.4
Huynh, T.5
Pramparo, T.6
Jurecic, V.7
Ogunrinu, G.8
Sutherland, H.F.9
Scambler, P.J.10
-
68
-
-
79956330132
-
Lessons on the pathogenesis of aneurysm from heritable conditions
-
M.E. Lindsay, and H.C. Dietz Lessons on the pathogenesis of aneurysm from heritable conditions Nature 473 2011 308 316
-
(2011)
Nature
, vol.473
, pp. 308-316
-
-
Lindsay, M.E.1
Dietz, H.C.2
-
69
-
-
2342486731
-
Parental cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults: A prospective study of parents and offspring
-
D.M. Lloyd-Jones, B.H. Nam, R.B. D'Agostino Sr., D. Levy, J.M. Murabito, T.J. Wang, P.W. Wilson, and C.J. O'Donnell Parental cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults: a prospective study of parents and offspring JAMA 291 2004 2204 2211
-
(2004)
JAMA
, vol.291
, pp. 2204-2211
-
-
Lloyd-Jones, D.M.1
Nam, B.H.2
D'Agostino, Sr.R.B.3
Levy, D.4
Murabito, J.M.5
Wang, T.J.6
Wilson, P.W.7
O'Donnell, C.J.8
-
70
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
D.G. MacArthur, S. Balasubramanian, A. Frankish, N. Huang, J. Morris, K. Walter, L. Jostins, L. Habegger, J.K. Pickrell, and S.B. Montgomery A systematic survey of loss-of-function variants in human protein-coding genes Science 335 2012 823 828
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
Balasubramanian, S.2
Frankish, A.3
Huang, N.4
Morris, J.5
Walter, K.6
Jostins, L.7
Habegger, L.8
Pickrell, J.K.9
Montgomery, S.B.10
-
71
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
B.E. Madsen, and S.R. Browning A groupwise association test for rare mutations using a weighted sum statistic PLoS Genet. 5 2009 e1000384
-
(2009)
PLoS Genet.
, vol.5
, pp. 1000384
-
-
Madsen, B.E.1
Browning, S.R.2
-
72
-
-
33847656105
-
LRP6 mutation in a family with early coronary disease and metabolic risk factors
-
A. Mani, J. Radhakrishnan, H. Wang, M.A. Mani, C. Nelson-Williams, K.S. Carew, S. Mane, H. Najmabadi, D. Wu, and R.P. Lifton LRP6 mutation in a family with early coronary disease and metabolic risk factors Science 315 2007 1278 1282
-
(2007)
Science
, vol.315
, pp. 1278-1282
-
-
Mani, A.1
Radhakrishnan, J.2
Wang, H.3
Mani, M.A.4
Nelson-Williams, C.5
Carew, K.S.6
Mane, S.7
Najmabadi, H.8
Wu, D.9
Lifton, R.P.10
-
73
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
T.A. Manolio, F.S. Collins, N.J. Cox, D.B. Goldstein, L.A. Hindorff, D.J. Hunter, M.I. McCarthy, E.M. Ramos, L.R. Cardon, and A. Chakravarti Finding the missing heritability of complex diseases Nature 461 2009 747 753
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
McCarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
-
74
-
-
77951702343
-
Genetic heterogeneity in human disease
-
J. McClellan, and M.C. King Genetic heterogeneity in human disease Cell 141 2010 210 217
-
(2010)
Cell
, vol.141
, pp. 210-217
-
-
McClellan, J.1
King, M.C.2
-
75
-
-
5644229494
-
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
-
Familial Cardiomyopathy Registry Research Group
-
W.P. McNair, L. Ku, M.R. Taylor, P.R. Fain, D. Dao, E. Wolfel, L. Mestroni Familial Cardiomyopathy Registry Research Group SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia Circulation 110 2004 2163 2167
-
(2004)
Circulation
, vol.110
, pp. 2163-2167
-
-
McNair, W.P.1
Ku, L.2
Taylor, M.R.3
Fain, P.R.4
Dao, D.5
Wolfel, E.6
Mestroni, L.7
-
76
-
-
34249996115
-
A common allele on chromosome 9 associated with coronary heart disease
-
R. McPherson, A. Pertsemlidis, N. Kavaslar, A. Stewart, R. Roberts, D.R. Cox, D.A. Hinds, L.A. Pennacchio, A. Tybjaerg-Hansen, and A.R. Folsom A common allele on chromosome 9 associated with coronary heart disease Science 316 2007 1488 1491
-
(2007)
Science
, vol.316
, pp. 1488-1491
-
-
McPherson, R.1
Pertsemlidis, A.2
Kavaslar, N.3
Stewart, A.4
Roberts, R.5
Cox, D.R.6
Hinds, D.A.7
Pennacchio, L.A.8
Tybjaerg-Hansen, A.9
Folsom, A.R.10
-
77
-
-
34748864128
-
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
-
S. Menzel, C. Garner, I. Gut, F. Matsuda, M. Yamaguchi, S. Heath, M. Foglio, D. Zelenika, A. Boland, and H. Rooks A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15 Nat. Genet. 39 2007 1197 1199
-
(2007)
Nat. Genet.
, vol.39
, pp. 1197-1199
-
-
Menzel, S.1
Garner, C.2
Gut, I.3
Matsuda, F.4
Yamaguchi, M.5
Heath, S.6
Foglio, M.7
Zelenika, D.8
Boland, A.9
Rooks, H.10
-
78
-
-
77957729169
-
Patient-specific induced pluripotent stem-cell models for long-QT syndrome
-
A. Moretti, M. Bellin, A. Welling, C.B. Jung, J.T. Lam, L. Bott-Flügel, T. Dorn, A. Goedel, C. Höhnke, and F. Hofmann Patient-specific induced pluripotent stem-cell models for long-QT syndrome N. Engl. J. Med. 363 2010 1397 1409
-
(2010)
N. Engl. J. Med.
, vol.363
, pp. 1397-1409
-
-
Moretti, A.1
Bellin, M.2
Welling, A.3
Jung, C.B.4
Lam, J.T.5
Bott-Flügel, L.6
Dorn, T.7
Goedel, A.8
Höhnke, C.9
Hofmann, F.10
-
79
-
-
0029160972
-
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase
-
T. Mune, F.M. Rogerson, H. Nikkilä, A.K. Agarwal, and P.C. White Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase Nat. Genet. 10 1995 394 399
-
(1995)
Nat. Genet.
, vol.10
, pp. 394-399
-
-
Mune, T.1
Rogerson, F.M.2
Nikkilä, H.3
Agarwal, A.K.4
White, P.C.5
-
81
-
-
78649755576
-
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
-
K. Musunuru, J.P. Pirruccello, R. Do, G.M. Peloso, C. Guiducci, C. Sougnez, K.V. Garimella, S. Fisher, J. Abreu, and A.J. Barry Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia N. Engl. J. Med. 363 2010 2220 2227
-
(2010)
N. Engl. J. Med.
, vol.363
, pp. 2220-2227
-
-
Musunuru, K.1
Pirruccello, J.P.2
Do, R.3
Peloso, G.M.4
Guiducci, C.5
Sougnez, C.6
Garimella, K.V.7
Fisher, S.8
Abreu, J.9
Barry, A.J.10
-
82
-
-
77955499945
-
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
-
K. Musunuru, A. Strong, M. Frank-Kamenetsky, N.E. Lee, T. Ahfeldt, K.V. Sachs, X. Li, H. Li, N. Kuperwasser, and V.M. Ruda From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus Nature 466 2010 714 719
-
(2010)
Nature
, vol.466
, pp. 714-719
-
-
Musunuru, K.1
Strong, A.2
Frank-Kamenetsky, M.3
Lee, N.E.4
Ahfeldt, T.5
Sachs, K.V.6
Li, X.7
Li, H.8
Kuperwasser, N.9
Ruda, V.M.10
-
83
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
B.M. Neale, M.A. Rivas, B.F. Voight, D. Altshuler, B. Devlin, M. Orho-Melander, S. Kathiresan, S.M. Purcell, K. Roeder, and M.J. Daly Testing for an unusual distribution of rare variants PLoS Genet. 7 2011 e1001322
-
(2011)
PLoS Genet.
, vol.7
, pp. 1001322
-
-
Neale, B.M.1
Rivas, M.A.2
Voight, B.F.3
Altshuler, D.4
Devlin, B.5
Orho-Melander, M.6
Kathiresan, S.7
Purcell, S.M.8
Roeder, K.9
Daly, M.J.10
-
84
-
-
63449136073
-
Common variants at ten loci influence QT interval duration in the QTGEN Study
-
C. Newton-Cheh, M. Eijgelsheim, K.M. Rice, P.I. de Bakker, X. Yin, K. Estrada, J.C. Bis, K. Marciante, F. Rivadeneira, and P.A. Noseworthy Common variants at ten loci influence QT interval duration in the QTGEN Study Nat. Genet. 41 2009 399 406
-
(2009)
Nat. Genet.
, vol.41
, pp. 399-406
-
-
Newton-Cheh, C.1
Eijgelsheim, M.2
Rice, K.M.3
De Bakker, P.I.4
Yin, X.5
Estrada, K.6
Bis, J.C.7
Marciante, K.8
Rivadeneira, F.9
Noseworthy, P.A.10
-
85
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
S.B. Ng, K.J. Buckingham, C. Lee, A.W. Bigham, H.K. Tabor, K.M. Dent, C.D. Huff, P.T. Shannon, E.W. Jabs, and D.A. Nickerson Exome sequencing identifies the cause of a mendelian disorder Nat. Genet. 42 2010 30 35
-
(2010)
Nat. Genet.
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
-
86
-
-
79955929421
-
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy
-
N. Norton, D. Li, M.J. Rieder, J.D. Siegfried, E. Rampersaud, S. Züchner, S. Mangos, J. Gonzalez-Quintana, L. Wang, and S. McGee Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy Am. J. Hum. Genet. 88 2011 273 282
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 273-282
-
-
Norton, N.1
Li, D.2
Rieder, M.J.3
Siegfried, J.D.4
Rampersaud, E.5
Züchner, S.6
Mangos, S.7
Gonzalez-Quintana, J.8
Wang, L.9
McGee, S.10
-
87
-
-
82555192222
-
Genomics of cardiovascular disease
-
C.J. O'Donnell, and E.G. Nabel Genomics of cardiovascular disease N. Engl. J. Med. 365 2011 2098 2109
-
(2011)
N. Engl. J. Med.
, vol.365
, pp. 2098-2109
-
-
O'Donnell, C.J.1
Nabel, E.G.2
-
88
-
-
0033799445
-
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy
-
T.M. Olson, T.P. Doan, N.Y. Kishimoto, F.G. Whitby, M.J. Ackerman, and L. Fananapazir Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy J. Mol. Cell. Cardiol. 32 2000 1687 1694
-
(2000)
J. Mol. Cell. Cardiol.
, vol.32
, pp. 1687-1694
-
-
Olson, T.M.1
Doan, T.P.2
Kishimoto, N.Y.3
Whitby, F.G.4
Ackerman, M.J.5
Fananapazir, L.6
-
89
-
-
15844400653
-
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
-
K. Poetter, H. Jiang, S. Hassanzadeh, S.R. Master, A. Chang, M.C. Dalakas, I. Rayment, J.R. Sellers, L. Fananapazir, and N.D. Epstein Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle Nat. Genet. 13 1996 63 69
-
(1996)
Nat. Genet.
, vol.13
, pp. 63-69
-
-
Poetter, K.1
Jiang, H.2
Hassanzadeh, S.3
Master, S.R.4
Chang, A.5
Dalakas, M.C.6
Rayment, I.7
Sellers, J.R.8
Fananapazir, L.9
Epstein, N.D.10
-
90
-
-
58149262866
-
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection
-
T.I. Pollin, C.M. Damcott, H. Shen, S.H. Ott, J. Shelton, R.B. Horenstein, W. Post, J.C. McLenithan, L.F. Bielak, and P.A. Peyser A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection Science 322 2008 1702 1705
-
(2008)
Science
, vol.322
, pp. 1702-1705
-
-
Pollin, T.I.1
Damcott, C.M.2
Shen, H.3
Ott, S.H.4
Shelton, J.5
Horenstein, R.B.6
Post, W.7
McLenithan, J.C.8
Bielak, L.F.9
Peyser, P.A.10
-
91
-
-
77953121877
-
Pooled association tests for rare variants in exon-resequencing studies
-
A.L. Price, G.V. Kryukov, P.I. de Bakker, S.M. Purcell, J. Staples, L.J. Wei, and S.R. Sunyaev Pooled association tests for rare variants in exon-resequencing studies Am. J. Hum. Genet. 86 2010 832 838
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 832-838
-
-
Price, A.L.1
Kryukov, G.V.2
De Bakker, P.I.3
Purcell, S.M.4
Staples, J.5
Wei, L.J.6
Sunyaev, S.R.7
-
92
-
-
80053474802
-
Mapping rare and common causal alleles for complex human diseases
-
S. Raychaudhuri Mapping rare and common causal alleles for complex human diseases Cell 147 2011 57 69
-
(2011)
Cell
, vol.147
, pp. 57-69
-
-
Raychaudhuri, S.1
-
93
-
-
79251619566
-
Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: Two genome-wide association studies
-
Myocardial Infarction Genetics Consortium Wellcome Trust Case Control Consortium
-
M.P. Reilly, M. Li, J. He, J.F. Ferguson, I.M. Stylianou, N.N. Mehta, M.S. Burnett, J.M. Devaney, C.W. Knouff, J.R. Thompson Myocardial Infarction Genetics Consortium Wellcome Trust Case Control Consortium Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies Lancet 377 2011 383 392
-
(2011)
Lancet
, vol.377
, pp. 383-392
-
-
Reilly, M.P.1
Li, M.2
He, J.3
Ferguson, J.F.4
Stylianou, I.M.5
Mehta, N.N.6
Burnett, M.S.7
Devaney, J.M.8
Knouff, C.W.9
Thompson, J.R.10
-
94
-
-
84855396777
-
Executive summary: Heart disease and stroke statistics - 2012 update: A report from the American Heart Association
-
American Heart Association Statistics Committee and Stroke Statistics Subcommittee
-
V.L. Roger, A.S. Go, D.M. Lloyd-Jones, E.J. Benjamin, J.D. Berry, W.B. Borden, D.M. Bravata, S. Dai, E.S. Ford, C.S. Fox American Heart Association Statistics Committee and Stroke Statistics Subcommittee Executive summary: heart disease and stroke statistics - 2012 update: a report from the American Heart Association Circulation 125 2012 188 197
-
(2012)
Circulation
, vol.125
, pp. 188-197
-
-
Roger, V.L.1
Go, A.S.2
Lloyd-Jones, D.M.3
Benjamin, E.J.4
Berry, J.D.5
Borden, W.B.6
Bravata, D.M.7
Dai, S.8
Ford, E.S.9
Fox, C.S.10
-
95
-
-
61749090233
-
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans
-
S. Romeo, W. Yin, J. Kozlitina, L.A. Pennacchio, E. Boerwinkle, H.H. Hobbs, and J.C. Cohen Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans J. Clin. Invest. 119 2009 70 79
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 70-79
-
-
Romeo, S.1
Yin, W.2
Kozlitina, J.3
Pennacchio, L.A.4
Boerwinkle, E.5
Hobbs, H.H.6
Cohen, J.C.7
-
96
-
-
34547623750
-
Genomewide association analysis of coronary artery disease
-
WTCCC and the Cardiogenics Consortium
-
N.J. Samani, J. Erdmann, A.S. Hall, C. Hengstenberg, M. Mangino, B. Mayer, R.J. Dixon, T. Meitinger, P. Braund, H.E. Wichmann WTCCC and the Cardiogenics Consortium Genomewide association analysis of coronary artery disease N. Engl. J. Med. 357 2007 443 453
-
(2007)
N. Engl. J. Med.
, vol.357
, pp. 443-453
-
-
Samani, N.J.1
Erdmann, J.2
Hall, A.S.3
Hengstenberg, C.4
Mangino, M.5
Mayer, B.6
Dixon, R.J.7
Meitinger, T.8
Braund, P.9
Wichmann, H.E.10
-
97
-
-
57849083996
-
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A
-
V.G. Sankaran, T.F. Menne, J. Xu, T.E. Akie, G. Lettre, B. Van Handel, H.K. Mikkola, J.N. Hirschhorn, A.B. Cantor, and S.H. Orkin Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A Science 322 2008 1839 1842
-
(2008)
Science
, vol.322
, pp. 1839-1842
-
-
Sankaran, V.G.1
Menne, T.F.2
Xu, J.3
Akie, T.E.4
Lettre, G.5
Van Handel, B.6
Mikkola, H.K.7
Hirschhorn, J.N.8
Cantor, A.B.9
Orkin, S.H.10
-
98
-
-
69349092063
-
Developmental and species-divergent globin switching are driven by BCL11A
-
V.G. Sankaran, J. Xu, T. Ragoczy, G.C. Ippolito, C.R. Walkley, S.D. Maika, Y. Fujiwara, M. Ito, M. Groudine, and M.A. Bender Developmental and species-divergent globin switching are driven by BCL11A Nature 460 2009 1093 1097
-
(2009)
Nature
, vol.460
, pp. 1093-1097
-
-
Sankaran, V.G.1
Xu, J.2
Ragoczy, T.3
Ippolito, G.C.4
Walkley, C.R.5
Maika, S.D.6
Fujiwara, Y.7
Ito, M.8
Groudine, M.9
Bender, M.A.10
-
99
-
-
45149108420
-
Mapping the genetic architecture of gene expression in human liver
-
E.E. Schadt, C. Molony, E. Chudin, K. Hao, X. Yang, P.Y. Lum, A. Kasarskis, B. Zhang, S. Wang, and C. Suver Mapping the genetic architecture of gene expression in human liver PLoS Biol. 6 2008 e107
-
(2008)
PLoS Biol.
, vol.6
, pp. 107
-
-
Schadt, E.E.1
Molony, C.2
Chudin, E.3
Hao, K.4
Yang, X.5
Lum, P.Y.6
Kasarskis, A.7
Zhang, B.8
Wang, S.9
Suver, C.10
-
100
-
-
0032479573
-
Congenital heart disease caused by mutations in the transcription factor NKX2-5
-
J.J. Schott, D.W. Benson, C.T. Basson, W. Pease, G.M. Silberbach, J.P. Moak, B.J. Maron, C.E. Seidman, and J.G. Seidman Congenital heart disease caused by mutations in the transcription factor NKX2-5 Science 281 1998 108 111
-
(1998)
Science
, vol.281
, pp. 108-111
-
-
Schott, J.J.1
Benson, D.W.2
Basson, C.T.3
Pease, W.4
Silberbach, G.M.5
Moak, J.P.6
Maron, B.J.7
Seidman, C.E.8
Seidman, J.G.9
-
101
-
-
0003096674
-
Cardiac conduction defects associate with mutations in SCN5A
-
J.J. Schott, C. Alshinawi, F. Kyndt, V. Probst, T.M. Hoorntje, M. Hulsbeek, A.A. Wilde, D. Escande, M.M. Mannens, and H. Le Marec Cardiac conduction defects associate with mutations in SCN5A Nat. Genet. 23 1999 20 21
-
(1999)
Nat. Genet.
, vol.23
, pp. 20-21
-
-
Schott, J.J.1
Alshinawi, C.2
Kyndt, F.3
Probst, V.4
Hoorntje, T.M.5
Hulsbeek, M.6
Wilde, A.A.7
Escande, D.8
Mannens, M.M.9
Le Marec, H.10
-
102
-
-
79953204259
-
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
-
Cardiogenics CARDIoGRAM Consortium
-
H. Schunkert, I.R. König, S. Kathiresan, M.P. Reilly, T.L. Assimes, H. Holm, M. Preuss, A.F. Stewart, M. Barbalic, C. Gieger Cardiogenics CARDIoGRAM Consortium Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease Nat. Genet. 43 2011 333 338
-
(2011)
Nat. Genet.
, vol.43
, pp. 333-338
-
-
Schunkert, H.1
König, I.R.2
Kathiresan, S.3
Reilly, M.P.4
Assimes, T.L.5
Holm, H.6
Preuss, M.7
Stewart, A.F.8
Barbalic, M.9
Gieger, C.10
-
103
-
-
0035936792
-
The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
-
J.G. Seidman, and C. Seidman The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms Cell 104 2001 557 567
-
(2001)
Cell
, vol.104
, pp. 557-567
-
-
Seidman, J.G.1
Seidman, C.2
-
104
-
-
79960930495
-
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction
-
Myocardial Infarction Genetics Consortium
-
J. Shea, V. Agarwala, A.A. Philippakis, J. Maguire, E. Banks, M. Depristo, B. Thomson, C. Guiducci, R.C. Onofrio, S. Kathiresan Myocardial Infarction Genetics Consortium Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction Nat. Genet. 43 2011 801 805
-
(2011)
Nat. Genet.
, vol.43
, pp. 801-805
-
-
Shea, J.1
Agarwala, V.2
Philippakis, A.A.3
Maguire, J.4
Banks, E.5
Depristo, M.6
Thomson, B.7
Guiducci, C.8
Onofrio, R.C.9
Kathiresan, S.10
-
105
-
-
0027946089
-
Liddle's syndrome: Heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel
-
R.A. Shimkets, D.G. Warnock, C.M. Bositis, C. Nelson-Williams, J.H. Hansson, M. Schambelan, J.R. Gill Jr., S. Ulick, R.V. Milora, and J.W. Findling Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel Cell 79 1994 407 414
-
(1994)
Cell
, vol.79
, pp. 407-414
-
-
Shimkets, R.A.1
Warnock, D.G.2
Bositis, C.M.3
Nelson-Williams, C.4
Hansson, J.H.5
Schambelan, M.6
Gill, Jr.J.R.7
Ulick, S.8
Milora, R.V.9
Findling, J.W.10
-
106
-
-
0030032699
-
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
-
D.B. Simon, F.E. Karet, J.M. Hamdan, A. DiPietro, S.A. Sanjad, and R.P. Lifton Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2 Nat. Genet. 13 1996 183 188
-
(1996)
Nat. Genet.
, vol.13
, pp. 183-188
-
-
Simon, D.B.1
Karet, F.E.2
Hamdan, J.M.3
Dipietro, A.4
Sanjad, S.A.5
Lifton, R.P.6
-
107
-
-
0029794875
-
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK
-
D.B. Simon, F.E. Karet, J. Rodriguez-Soriano, J.H. Hamdan, A. DiPietro, H. Trachtman, S.A. Sanjad, and R.P. Lifton Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK Nat. Genet. 14 1996 152 156
-
(1996)
Nat. Genet.
, vol.14
, pp. 152-156
-
-
Simon, D.B.1
Karet, F.E.2
Rodriguez-Soriano, J.3
Hamdan, J.H.4
Dipietro, A.5
Trachtman, H.6
Sanjad, S.A.7
Lifton, R.P.8
-
108
-
-
9044235777
-
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
-
D.B. Simon, C. Nelson-Williams, M.J. Bia, D. Ellison, F.E. Karet, A.M. Molina, I. Vaara, F. Iwata, H.M. Cushner, and M. Koolen Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter Nat. Genet. 12 1996 24 30
-
(1996)
Nat. Genet.
, vol.12
, pp. 24-30
-
-
Simon, D.B.1
Nelson-Williams, C.2
Bia, M.J.3
Ellison, D.4
Karet, F.E.5
Molina, A.M.6
Vaara, I.7
Iwata, F.8
Cushner, H.M.9
Koolen, M.10
-
109
-
-
16944366243
-
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
-
D.B. Simon, R.S. Bindra, T.A. Mansfield, C. Nelson-Williams, E. Mendonca, R. Stone, S. Schurman, A. Nayir, H. Alpay, and A. Bakkaloglu Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III Nat. Genet. 17 1997 171 178
-
(1997)
Nat. Genet.
, vol.17
, pp. 171-178
-
-
Simon, D.B.1
Bindra, R.S.2
Mansfield, T.A.3
Nelson-Williams, C.4
Mendonca, E.5
Stone, R.6
Schurman, S.7
Nayir, A.8
Alpay, H.9
Bakkaloglu, A.10
-
110
-
-
0024558892
-
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100
-
L.F. Soria, E.H. Ludwig, H.R. Clarke, G.L. Vega, S.M. Grundy, and B.J. McCarthy Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100 Proc. Natl. Acad. Sci. USA 86 1989 587 591
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 587-591
-
-
Soria, L.F.1
Ludwig, E.H.2
Clarke, H.R.3
Vega, G.L.4
Grundy, S.M.5
McCarthy, B.J.6
-
111
-
-
79551565257
-
NT5E mutations and arterial calcifications
-
C. St Hilaire, S.G. Ziegler, T.C. Markello, A. Brusco, C. Groden, F. Gill, H. Carlson-Donohoe, R.J. Lederman, M.Y. Chen, and D. Yang NT5E mutations and arterial calcifications N. Engl. J. Med. 364 2011 432 442
-
(2011)
N. Engl. J. Med.
, vol.364
, pp. 432-442
-
-
St Hilaire, C.1
Ziegler, S.G.2
Markello, T.C.3
Brusco, A.4
Groden, C.5
Gill, F.6
Carlson-Donohoe, H.7
Lederman, R.J.8
Chen, M.Y.9
Yang, D.10
-
112
-
-
77953446523
-
The Human Gene Mutation Database: 2008 update
-
P.D. Stenson, M. Mort, E.V. Ball, K. Howells, A.D. Phillips, N.S. Thomas, and D.N. Cooper The Human Gene Mutation Database: 2008 update Genome. Med. 1 2009 13
-
(2009)
Genome. Med.
, vol.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Howells, K.4
Phillips, A.D.5
Thomas, N.S.6
Cooper, D.N.7
-
113
-
-
0035869223
-
Prediction of deleterious human alleles
-
S. Sunyaev, V. Ramensky, I. Koch, W. Lathe III, A.S. Kondrashov, and P. Bork Prediction of deleterious human alleles Hum. Mol. Genet. 10 2001 591 597
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe Iii, W.4
Kondrashov, A.S.5
Bork, P.6
-
114
-
-
36248966518
-
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
-
K. Takahashi, K. Tanabe, M. Ohnuki, M. Narita, T. Ichisaka, K. Tomoda, and S. Yamanaka Induction of pluripotent stem cells from adult human fibroblasts by defined factors Cell 131 2007 861 872
-
(2007)
Cell
, vol.131
, pp. 861-872
-
-
Takahashi, K.1
Tanabe, K.2
Ohnuki, M.3
Narita, M.4
Ichisaka, T.5
Tomoda, K.6
Yamanaka, S.7
-
115
-
-
18344385476
-
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
-
M. Tartaglia, E.L. Mehler, R. Goldberg, G. Zampino, H.G. Brunner, H. Kremer, I. van der Burgt, A.H. Crosby, A. Ion, and S. Jeffery Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome Nat. Genet. 29 2001 465 468
-
(2001)
Nat. Genet.
, vol.29
, pp. 465-468
-
-
Tartaglia, M.1
Mehler, E.L.2
Goldberg, R.3
Zampino, G.4
Brunner, H.G.5
Kremer, H.6
Van Der Burgt, I.7
Crosby, A.H.8
Ion, A.9
Jeffery, S.10
-
116
-
-
77955505564
-
Biological, clinical and population relevance of 95 loci for blood lipids
-
T.M. Teslovich, K. Musunuru, A.V. Smith, A.C. Edmondson, I.M. Stylianou, M. Koseki, J.P. Pirruccello, S. Ripatti, D.I. Chasman, and C.J. Willer Biological, clinical and population relevance of 95 loci for blood lipids Nature 466 2010 707 713
-
(2010)
Nature
, vol.466
, pp. 707-713
-
-
Teslovich, T.M.1
Musunuru, K.2
Smith, A.V.3
Edmondson, A.C.4
Stylianou, I.M.5
Koseki, M.6
Pirruccello, J.P.7
Ripatti, S.8
Chasman, D.I.9
Willer, C.J.10
-
117
-
-
77956824626
-
Genetic regulation of serum phytosterol levels and risk of coronary artery disease
-
D. Teupser, R. Baber, U. Ceglarek, M. Scholz, T. Illig, C. Gieger, L.M. Holdt, A. Leichtle, K.H. Greiser, and D. Huster Genetic regulation of serum phytosterol levels and risk of coronary artery disease Circ. Cardiovasc. Genet. 3 2010 331 339
-
(2010)
Circ. Cardiovasc. Genet.
, vol.3
, pp. 331-339
-
-
Teupser, D.1
Baber, R.2
Ceglarek, U.3
Scholz, M.4
Illig, T.5
Gieger, C.6
Holdt, L.M.7
Leichtle, A.8
Greiser, K.H.9
Huster, D.10
-
118
-
-
0028178083
-
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
-
L. Thierfelder, H. Watkins, C. MacRae, R. Lamas, W. McKenna, H.P. Vosberg, J.G. Seidman, and C.E. Seidman Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere Cell 77 1994 701 712
-
(1994)
Cell
, vol.77
, pp. 701-712
-
-
Thierfelder, L.1
Watkins, H.2
MacRae, C.3
Lamas, R.4
McKenna, W.5
Vosberg, H.P.6
Seidman, J.G.7
Seidman, C.E.8
-
119
-
-
79551479646
-
TRIB1 and GCKR polymorphisms, lipid levels, and risk of ischemic heart disease in the general population
-
A. Varbo, M. Benn, A. Tybjærg-Hansen, P. Grande, and B.G. Nordestgaard TRIB1 and GCKR polymorphisms, lipid levels, and risk of ischemic heart disease in the general population Arterioscler. Thromb. Vasc. Biol. 31 2011 451 457
-
(2011)
Arterioscler. Thromb. Vasc. Biol.
, vol.31
, pp. 451-457
-
-
Varbo, A.1
Benn, M.2
Tybjærg-Hansen, A.3
Grande, P.4
Nordestgaard, B.G.5
-
120
-
-
77949775636
-
Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice
-
A. Visel, Y. Zhu, D. May, V. Afzal, E. Gong, C. Attanasio, M.J. Blow, J.C. Cohen, E.M. Rubin, and L.A. Pennacchio Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice Nature 464 2010 409 412
-
(2010)
Nature
, vol.464
, pp. 409-412
-
-
Visel, A.1
Zhu, Y.2
May, D.3
Afzal, V.4
Gong, E.5
Attanasio, C.6
Blow, M.J.7
Cohen, J.C.8
Rubin, E.M.9
Pennacchio, L.A.10
-
121
-
-
0028905566
-
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
-
Q. Wang, J. Shen, I. Splawski, D. Atkinson, Z. Li, J.L. Robinson, A.J. Moss, J.A. Towbin, and M.T. Keating SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome Cell 80 1995 805 811
-
(1995)
Cell
, vol.80
, pp. 805-811
-
-
Wang, Q.1
Shen, J.2
Splawski, I.3
Atkinson, D.4
Li, Z.5
Robinson, J.L.6
Moss, A.J.7
Towbin, J.A.8
Keating, M.T.9
-
122
-
-
79953207296
-
Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population
-
F. Wang, C.Q. Xu, Q. He, J.P. Cai, X.C. Li, D. Wang, X. Xiong, Y.H. Liao, Q.T. Zeng, and Y.Z. Yang Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population Nat. Genet. 43 2011 345 349
-
(2011)
Nat. Genet.
, vol.43
, pp. 345-349
-
-
Wang, F.1
Xu, C.Q.2
He, Q.3
Cai, J.P.4
Li, X.C.5
Wang, D.6
Xiong, X.7
Liao, Y.H.8
Zeng, Q.T.9
Yang, Y.Z.10
-
123
-
-
0028844204
-
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
-
H. Watkins, D. Conner, L. Thierfelder, J.A. Jarcho, C. MacRae, W.J. McKenna, B.J. Maron, J.G. Seidman, and C.E. Seidman Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy Nat. Genet. 11 1995 434 437
-
(1995)
Nat. Genet.
, vol.11
, pp. 434-437
-
-
Watkins, H.1
Conner, D.2
Thierfelder, L.3
Jarcho, J.A.4
MacRae, C.5
McKenna, W.J.6
Maron, B.J.7
Seidman, J.G.8
Seidman, C.E.9
-
124
-
-
84969213492
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
-
Wellcome Trust Case Control Consortium
-
Wellcome Trust Case Control Consortium Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls Nature 447 2007 661 678
-
(2007)
Nature
, vol.447
, pp. 661-678
-
-
-
125
-
-
84880230242
-
Association between C reactive protein and coronary heart disease: Mendelian randomisation analysis based on individual participant data
-
C Reactive Protein Coronary Heart Disease Genetics Collaboration (CCGC)
-
F. Wensley, P. Gao, S. Burgess, S. Kaptoge, E. Di Angelantonio, T. Shah, J.C. Engert, R. Clarke, G. Davey-Smith, B.G. Nordestgaard C Reactive Protein Coronary Heart Disease Genetics Collaboration (CCGC) Association between C reactive protein and coronary heart disease: mendelian randomisation analysis based on individual participant data BMJ 342 2011 d548
-
(2011)
BMJ
, vol.342
, pp. 548
-
-
Wensley, F.1
Gao, P.2
Burgess, S.3
Kaptoge, S.4
Di Angelantonio, E.5
Shah, T.6
Engert, J.C.7
Clarke, R.8
Davey-Smith, G.9
Nordestgaard, B.G.10
-
126
-
-
80052733701
-
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease
-
P.S. Wild, T. Zeller, A. Schillert, S. Szymczak, C.R. Sinning, A. Deiseroth, R.B. Schnabel, E. Lubos, T. Keller, and M.S. Eleftheriadis A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease Circ. Cardiovasc. Genet. 4 2011 403 412
-
(2011)
Circ. Cardiovasc. Genet.
, vol.4
, pp. 403-412
-
-
Wild, P.S.1
Zeller, T.2
Schillert, A.3
Szymczak, S.4
Sinning, C.R.5
Deiseroth, A.6
Schnabel, R.B.7
Lubos, E.8
Keller, T.9
Eleftheriadis, M.S.10
-
127
-
-
38649125868
-
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
-
C.J. Willer, S. Sanna, A.U. Jackson, A. Scuteri, L.L. Bonnycastle, R. Clarke, S.C. Heath, N.J. Timpson, S.S. Najjar, and H.M. Stringham Newly identified loci that influence lipid concentrations and risk of coronary artery disease Nat. Genet. 40 2008 161 169
-
(2008)
Nat. Genet.
, vol.40
, pp. 161-169
-
-
Willer, C.J.1
Sanna, S.2
Jackson, A.U.3
Scuteri, A.4
Bonnycastle, L.L.5
Clarke, R.6
Heath, S.C.7
Timpson, N.J.8
Najjar, S.S.9
Stringham, H.M.10
-
128
-
-
17944373014
-
Human hypertension caused by mutations in WNK kinases
-
F.H. Wilson, S. Disse-Nicodme, K.A. Choate, K. Ishikawa, C. Nelson-Williams, I. Desitter, M. Gunel, D.V. Milford, G.W. Lipkin, and J.M. Achard Human hypertension caused by mutations in WNK kinases Science 293 2001 1107 1112
-
(2001)
Science
, vol.293
, pp. 1107-1112
-
-
Wilson, F.H.1
Disse-Nicodme, S.2
Choate, K.A.3
Ishikawa, K.4
Nelson-Williams, C.5
Desitter, I.6
Gunel, M.7
Milford, D.V.8
Lipkin, G.W.9
Achard, J.M.10
-
129
-
-
77950930726
-
Transcriptional silencing of gamma-globin by BCL11A involves long-range interactions and cooperation with SOX6
-
J. Xu, V.G. Sankaran, M. Ni, T.F. Menne, R.V. Puram, W. Kim, and S.H. Orkin Transcriptional silencing of gamma-globin by BCL11A involves long-range interactions and cooperation with SOX6 Genes Dev. 24 2010 783 798
-
(2010)
Genes Dev.
, vol.24
, pp. 783-798
-
-
Xu, J.1
Sankaran, V.G.2
Ni, M.3
Menne, T.F.4
Puram, R.V.5
Kim, W.6
Orkin, S.H.7
-
130
-
-
81555205756
-
Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing
-
J. Xu, C. Peng, V.G. Sankaran, Z. Shao, E.B. Esrick, B.G. Chong, G.C. Ippolito, Y. Fujiwara, B.L. Ebert, P.W. Tucker, and S.H. Orkin Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing Science 334 2011 993 996
-
(2011)
Science
, vol.334
, pp. 993-996
-
-
Xu, J.1
Peng, C.2
Sankaran, V.G.3
Shao, Z.4
Esrick, E.B.5
Chong, B.G.6
Ippolito, G.C.7
Fujiwara, Y.8
Ebert, B.L.9
Tucker, P.W.10
Orkin, S.H.11
-
131
-
-
77951768060
-
Genome-wide association study of intracranial aneurysm identifies three new risk loci
-
K. Yasuno, K. Bilguvar, P. Bijlenga, S.K. Low, B. Krischek, G. Auburger, M. Simon, D. Krex, Z. Arlier, and N. Nayak Genome-wide association study of intracranial aneurysm identifies three new risk loci Nat. Genet. 42 2010 420 425
-
(2010)
Nat. Genet.
, vol.42
, pp. 420-425
-
-
Yasuno, K.1
Bilguvar, K.2
Bijlenga, P.3
Low, S.K.4
Krischek, B.5
Auburger, G.6
Simon, M.7
Krex, D.8
Arlier, Z.9
Nayak, N.10
-
132
-
-
79952438377
-
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome
-
M. Yazawa, B. Hsueh, X. Jia, A.M. Pasca, J.A. Bernstein, J. Hallmayer, and R.E. Dolmetsch Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome Nature 471 2011 230 234
-
(2011)
Nature
, vol.471
, pp. 230-234
-
-
Yazawa, M.1
Hsueh, B.2
Jia, X.3
Pasca, A.M.4
Bernstein, J.A.5
Hallmayer, J.6
Dolmetsch, R.E.7
-
133
-
-
80054987997
-
Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells
-
K. Yusa, S.T. Rashid, H. Strick-Marchand, I. Varela, P.Q. Liu, D.E. Paschon, E. Miranda, A. Ordóñez, N.R. Hannan, and F.J. Rouhani Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells Nature 478 2011 391 394
-
(2011)
Nature
, vol.478
, pp. 391-394
-
-
Yusa, K.1
Rashid, S.T.2
Strick-Marchand, H.3
Varela, I.4
Liu, P.Q.5
Paschon, D.E.6
Miranda, E.7
Ordóñez, A.8
Hannan, N.R.9
Rouhani, F.J.10
-
134
-
-
55249087635
-
Genetically elevated C-reactive protein and ischemic vascular disease
-
J. Zacho, A. Tybjaerg-Hansen, J.S. Jensen, P. Grande, H. Sillesen, and B.G. Nordestgaard Genetically elevated C-reactive protein and ischemic vascular disease N. Engl. J. Med. 359 2008 1897 1908
-
(2008)
N. Engl. J. Med.
, vol.359
, pp. 1897-1908
-
-
Zacho, J.1
Tybjaerg-Hansen, A.2
Jensen, J.S.3
Grande, P.4
Sillesen, H.5
Nordestgaard, B.G.6
|