-
1
-
-
84872054233
-
Executive summary: Heart disease and stroke statistics-2013 update: A report from the American Heart Association
-
Go, A. S.; Mozaffarian, D.; Roger, V. L.; Benjamin, E. J.; Berry, J. D.; Borden, W. B.; Bravata, D. M.; Dai, S.; Ford, E. S.; Fox, C. S.; et al. Executive summary: Heart disease and stroke statistics-2013 update: A report from the American Heart Association. Circulation 2013, 127, 143-152.
-
(2013)
Circulation
, vol.127
, pp. 143-152
-
-
Go, A.S.1
Mozaffarian, D.2
Roger, V.L.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
-
2
-
-
0028330005
-
Genetic susceptibility to death from coronary heart disease in a study of twins
-
Marenberg, M. E.; Risch, N.; Berkman, L. F.; Floderus, B.; de Faire, U. Genetic susceptibility to death from coronary heart disease in a study of twins. N. Engl. J. Med. 1994, 330, 1041-1046.
-
(1994)
N. Engl. J. Med
, vol.330
, pp. 1041-1046
-
-
Marenberg, M.E.1
Risch, N.2
Berkman, L.F.3
Floderus, B.4
de Faire, U.5
-
3
-
-
0030667923
-
Heritability of left ventricular mass: The Framingham Heart Study
-
Post, W. S.; Larson, M. G.; Myers, R. H.; Galderisi, M.; Levy, D. Heritability of left ventricular mass: The Framingham Heart Study. Hypertension 1997, 30, 1025-1028.
-
(1997)
Hypertension
, vol.30
, pp. 1025-1028
-
-
Post, W.S.1
Larson, M.G.2
Myers, R.H.3
Galderisi, M.4
Levy, D.5
-
4
-
-
0021990820
-
Heritability of cardiac size: An echocardiographic and electrocardiographic study of monozygotic and dizygotic twins
-
Adams, T. D.; Yanowitz, F. G.; Fisher, A. G.; Ridges, J. D.; Nelson, A. G.; Hagan, A. D.; Williams, R. R.; Hunt, S. C. Heritability of cardiac size: An echocardiographic and electrocardiographic study of monozygotic and dizygotic twins. Circulation 1985, 71, 39-44.
-
(1985)
Circulation
, vol.71
, pp. 39-44
-
-
Adams, T.D.1
Yanowitz, F.G.2
Fisher, A.G.3
Ridges, J.D.4
Nelson, A.G.5
Hagan, A.D.6
Williams, R.R.7
Hunt, S.C.8
-
5
-
-
0019302053
-
Construction of a genetic linkage map in man using restriction fragment length polymorphisms
-
Botstein, D.; White, R. L.; Skolnick, M.; Davis, R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 1980, 32, 314-331.
-
(1980)
Am. J. Hum. Genet
, vol.32
, pp. 314-331
-
-
Botstein, D.1
White, R.L.2
Skolnick, M.3
Davis, R.W.4
-
6
-
-
0024426784
-
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1
-
Jarcho, J. A.; McKenna, W.; Pare, J. A.; Solomon, S. D.; Holcombe, R. F.; Dickie, S.; Levi, T.; Donis-Keller, H.; Seidman, J. G.; Seidman, C. E. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N. Engl. J. Med. 1989, 321, 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
-
7
-
-
0025040392
-
A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation
-
Geisterfer-Lowrance, A. A.; Kass, S.; Tanigawa, G.; Vosberg, H. P.; McKenna, W.; Seidman, C. E.; Seidman, J. G. A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation. Cell 1990, 62, 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
-
8
-
-
0030636780
-
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
-
Basson, C. T.; Bachinsky, D. R.; Lin, R. C.; Levi, T.; Elkins, J. A.; Soults, J.; Grayzel, D.; Kroumpouzou, E.; Traill, T. A.; Leblanc-Straceski, J.; et al. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat. Genet. 1997, 15, 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
-
9
-
-
0028914969
-
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
-
Curran, M. E.; Splawski, I.; Timothy, K. W.; Vincent, G. M.; Green, E. D.; Keating, M. T. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995, 80, 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
-
10
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz, H. C.; Cutting, G. R.; Pyeritz, R. E.; Maslen, C. L.; Sakai, L. Y.; Corson, G. M.; Puffenberger, E. G.; Hamosh, A.; Nanthakumar, E. J.; Curristin, S. M.; et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991, 352, 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
-
11
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
Garg, V.; Kathiriya, I. S.; Barnes, R.; Schluterman, M. K.; King, I. N.; Butler, C. A.; Rothrock, C. R.; Eapen, R. S.; Hirayama-Yamada, K.; Joo, K.; et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003, 424, 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
-
12
-
-
24644467759
-
Mutations in NOTCH1 cause aortic valve disease
-
Garg, V.; Muth, A. N.; Ransom, J. F.; Schluterman, M. K.; Barnes, R.; King, I. N.; Grossfeld, P. D.; Srivastava, D. Mutations in NOTCH1 cause aortic valve disease. Nature 2005, 437, 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
-
13
-
-
0032479573
-
Congenital heart disease caused by mutations in the transcription factor NKX2-5
-
Schott, J. J.; Benson, D. W.; Basson, C. T.; Pease, W.; Silberbach, G. M.; Moak, J. P.; Maron, B. J.; Seidman, C. E.; Seidman, J. G. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998, 281, 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
-
14
-
-
18344385476
-
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
-
Tartaglia, M.; Mehler, E. L.; Goldberg, R.; Zampino, G.; Brunner, H. G.; Kremer, H.; van der Burgt, I.; Crosby, A. H.; Ion, A.; Jeffery, S.; et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 2001, 29, 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
-
15
-
-
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. Nat. Genet. 1995, 11, 241-247.
-
(1995)
Nat. Genet
, vol.11
, pp. 241-247
-
-
Lander, E.1
Kruglyak, L.2
-
16
-
-
79959503826
-
The International HapMap Project
-
International HapMap Consortium
-
International HapMap Consortium. The International HapMap Project. Nature 2003, 426, 789-796.
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
17
-
-
84864160745
-
-
National Human Genome Research Institute (NHGRI), Available online, (accessed on 25 February 2014)
-
National Human Genome Research Institute (NHGRI) Catalog of Published Genome-Wide Association Studies. Available online: http://www. genome. gov/gwasstudies/(accessed on 25 February 2014).
-
Catalog of Published Genome-Wide Association Studies
-
-
-
18
-
-
63449136073
-
Common variants at ten loci influence QT interval duration in the QTGEN Study
-
Newton-Cheh, C.; Eijgelsheim, M.; Rice, K. M.; de Bakker, P. I.; Yin, X.; Estrada, K.; Bis, J. C.; Marciante, K.; Rivadeneira, F.; Noseworthy, P. A.; et al. Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat. Genet. 2009, 41, 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
-
19
-
-
80052186988
-
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy
-
Villard, E.; Perret, C.; Gary, F.; Proust, C.; Dilanian, G.; Hengstenberg, C.; Ruppert, V.; Arbustini, E.; Wichter, T.; Germain, M.; et al. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur. Heart J. 2011, 32, 1065-1076.
-
(2011)
Eur. Heart J
, vol.32
, pp. 1065-1076
-
-
Villard, E.1
Perret, C.2
Gary, F.3
Proust, C.4
Dilanian, G.5
Hengstenberg, C.6
Ruppert, V.7
Arbustini, E.8
Wichter, T.9
Germain, M.10
-
20
-
-
77249109399
-
Dilated cardiomyopathy
-
Jefferies, J. L.; Towbin, J. A. Dilated cardiomyopathy. Lancet 2010, 375, 752-762.
-
(2010)
Lancet
, vol.375
, pp. 752-762
-
-
Jefferies, J.L.1
Towbin, J.A.2
-
21
-
-
77953023261
-
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy
-
Hershberger, R. E.; Norton, N.; Morales, A.; Li, D.; Siegfried, J. D.; Gonzalez-Quintana, J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ. Cardiovasc. Genet. 2010, 3, 155-161.
-
(2010)
Circ. Cardiovasc. Genet
, vol.3
, pp. 155-161
-
-
Hershberger, R.E.1
Norton, N.2
Morales, A.3
Li, D.4
Siegfried, J.D.5
Gonzalez-Quintana, J.6
-
22
-
-
77951915607
-
Common susceptibility variants examined for association with dilated cardiomyopathy
-
Rampersaud, E.; Kinnamon, D. D.; Hamilton, K.; Khuri, S.; Hershberger, R. E.; Martin, E. R. Common susceptibility variants examined for association with dilated cardiomyopathy. Ann. Hum. Genet. 2010, 74, 110-116.
-
(2010)
Ann. Hum. Genet
, vol.74
, pp. 110-116
-
-
Rampersaud, E.1
Kinnamon, D.D.2
Hamilton, K.3
Khuri, S.4
Hershberger, R.E.5
Martin, E.R.6
-
23
-
-
0033958697
-
Lack of association between polymorphisms of eight candidate genes and idiopathic dilated cardiomyopathy: The CARDIGENE study
-
Tiret, L.; Mallet, C.; Poirier, O.; Nicaud, V.; Millaire, A.; Bouhour, J. B.; Roizes, G.; Desnos, M.; Dorent, R.; Schwartz, K.; et al. Lack of association between polymorphisms of eight candidate genes and idiopathic dilated cardiomyopathy: The CARDIGENE study. J. Am. Coll. Cardiol. 2000, 35, 29-35.
-
(2000)
J. Am. Coll. Cardiol
, vol.35
, pp. 29-35
-
-
Tiret, L.1
Mallet, C.2
Poirier, O.3
Nicaud, V.4
Millaire, A.5
Bouhour, J.B.6
Roizes, G.7
Desnos, M.8
Dorent, R.9
Schwartz, K.10
-
24
-
-
0033534588
-
An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators
-
Takayama, S.; Xie, Z.; Reed, J. C. An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators. J. Biol. Chem. 1999, 274, 781-786.
-
(1999)
J. Biol. Chem
, vol.274
, pp. 781-786
-
-
Takayama, S.1
Xie, Z.2
Reed, J.C.3
-
25
-
-
33745238890
-
A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26
-
Ellinor, P. T.; Sasse-Klaassen, S.; Probst, S.; Gerull, B.; Shin, J. T.; Toeppel, A.; Heuser, A.; Michely, B.; Yoerger, D. M.; Song, B. S.; et al. A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26. J. Am. Coll. Cardiol. 2006, 48, 106-111.
-
(2006)
J. Am. Coll. Cardiol
, vol.48
, pp. 106-111
-
-
Ellinor, P.T.1
Sasse-Klaassen, S.2
Probst, S.3
Gerull, B.4
Shin, J.T.5
Toeppel, A.6
Heuser, A.7
Michely, B.8
Yoerger, D.M.9
Song, B.S.10
-
26
-
-
79955929421
-
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy
-
Norton, N.; Li, D.; Rieder, M. J.; Siegfried, J. D.; Rampersaud, E.; Zuchner, S.; Mangos, S.; Gonzalez-Quintana, J.; Wang, L.; McGee, S.; et al. 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. 2011, 88, 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
Zuchner, S.6
Mangos, S.7
Gonzalez-Quintana, J.8
Wang, L.9
McGee, S.10
-
27
-
-
0035451780
-
On the allelic spectrum of human disease
-
Reich, D. E.; Lander, E. S. On the allelic spectrum of human disease. Trends Genet. 2001, 17, 502-510.
-
(2001)
Trends Genet
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
28
-
-
13144265739
-
Genome-wide association studies: Theoretical and practical concerns
-
Wang, W. Y.; Barratt, B. J.; Clayton, D. G.; Todd, J. A. Genome-wide association studies: Theoretical and practical concerns. Nat. Rev. Genet. 2005, 6, 109-118.
-
(2005)
Nat. Rev. Genet
, vol.6
, pp. 109-118
-
-
Wang, W.Y.1
Barratt, B.J.2
Clayton, D.G.3
Todd, J.A.4
-
29
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio, T. A.; Collins, F. S.; Cox, N. J.; Goldstein, D. B.; Hindorff, L. A.; Hunter, D. J.; McCarthy, M. I.; Ramos, E. M.; Cardon, L. R.; Chakravarti, A.; et al. Finding the missing heritability of complex diseases. Nature 2009, 461, 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
-
30
-
-
34249996115
-
A common allele on chromosome 9 associated with coronary heart disease
-
McPherson, R.; Pertsemlidis, A.; Kavaslar, N.; Stewart, A.; Roberts, R.; Cox, D. R.; Hinds, D. A.; Pennacchio, L. A.; Tybjaerg-Hansen, A.; Folsom, A. R.; et al. A common allele on chromosome 9 associated with coronary heart disease. Science 2007, 316, 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
-
31
-
-
34250010480
-
A common variant on chromosome 9p21 affects the risk of myocardial infarction
-
Helgadottir, A.; Thorleifsson, G.; Manolescu, A.; Gretarsdottir, S.; Blondal, T.; Jonasdottir, A.; Sigurdsson, A.; Baker, A.; Palsson, A.; Masson, G.; et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 2007, 316, 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
Sigurdsson, A.7
Baker, A.8
Palsson, A.9
Masson, G.10
-
32
-
-
0029805706
-
The new genomics: Global views of biology
-
Lander, E. S. The new genomics: Global views of biology. Science 1996, 274, 536-539.
-
(1996)
Science
, vol.274
, pp. 536-539
-
-
Lander, E.S.1
-
33
-
-
0036799545
-
The allelic architecture of human disease genes: Common disease-common variant. or not?
-
Pritchard, J. K.; Cox, N. J. The allelic architecture of human disease genes: Common disease-common variant. or not? Hum. Mol. Genet. 2002, 11, 2417-2423.
-
(2002)
Hum. Mol. Genet
, vol.11
, pp. 2417-2423
-
-
Pritchard, J.K.1
Cox, N.J.2
-
34
-
-
84855925920
-
Rare and common variants: Twenty arguments
-
Gibson, G. Rare and common variants: Twenty arguments. Nat. Rev. Genet. 2011, 13, 135-145.
-
(2011)
Nat. Rev. Genet
, vol.13
, pp. 135-145
-
-
Gibson, G.1
-
35
-
-
58149156386
-
Cohort studies and the genetics of complex disease
-
Manolio, T. A. Cohort studies and the genetics of complex disease. Nat. Genet. 2009, 41, 5-6.
-
(2009)
Nat. Genet
, vol.41
, pp. 5-6
-
-
Manolio, T.A.1
-
36
-
-
84866912512
-
A direct characterization of human mutation based on microsatellites
-
Sun, J. X.; Helgason, A.; Masson, G.; Ebenesersdottir, S. S.; Li, H.; Mallick, S.; Gnerre, S.; Patterson, N.; Kong, A.; Reich, D.; et al. A direct characterization of human mutation based on microsatellites. Nat. Genet. 2012, 44, 1161-1165.
-
(2012)
Nat. Genet
, vol.44
, pp. 1161-1165
-
-
Sun, J.X.1
Helgason, A.2
Masson, G.3
Ebenesersdottir, S.S.4
Li, H.5
Mallick, S.6
Gnerre, S.7
Patterson, N.8
Kong, A.9
Reich, D.10
-
37
-
-
79957506175
-
Strategic approaches to unraveling genetic causes of cardiovascular diseases
-
Marian, A. J.; Belmont, J. Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ. Res. 2011, 108, 1252-1269.
-
(2011)
Circ. Res
, vol.108
, pp. 1252-1269
-
-
Marian, A.J.1
Belmont, J.2
-
38
-
-
50849127837
-
Genetic variation in an individual human exome
-
Ng, P. C.; Levy, S.; Huang, J.; Stockwell, T. B.; Walenz, B. P.; Li, K.; Axelrod, N.; Busam, D. A.; Strausberg, R. L.; Venter, J. C. Genetic variation in an individual human exome. PLoS Genet. 2008, 4, e1000160.
-
(2008)
PLoS Genet
, vol.4
-
-
Ng, P.C.1
Levy, S.2
Huang, J.3
Stockwell, T.B.4
Walenz, B.P.5
Li, K.6
Axelrod, N.7
Busam, D.A.8
Strausberg, R.L.9
Venter, J.C.10
-
39
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen, J. A.; Bigham, A. W.; O'Connor, T. D.; Fu, W.; Kenny, E. E.; Gravel, S.; McGee, S.; Do, R.; Liu, X.; Jun, G.; et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012, 337, 64-69.
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
Fu, W.4
Kenny, E.E.5
Gravel, S.6
McGee, S.7
Do, R.8
Liu, X.9
Jun, G.10
-
40
-
-
77955070766
-
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia
-
Johansen, C. T.; Wang, J.; Lanktree, M. B.; Cao, H.; McIntyre, A. D.; Ban, M. R.; Martins, R. A.; Kennedy, B. A.; Hassell, R. G.; Visser, M. E.; et al. Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat. Genet. 2010, 42, 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
-
41
-
-
58149161560
-
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
-
Aulchenko, Y. S.; Ripatti, S.; Lindqvist, I.; Boomsma, D.; Heid, I. M.; Pramstaller, P. P.; Penninx, B. W.; Janssens, A. C.; Wilson, J. F.; Spector, T.; et al. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat. Genet. 2009, 41, 47-55.
-
(2009)
Nat. Genet
, vol.41
, pp. 47-55
-
-
Aulchenko, Y.S.1
Ripatti, S.2
Lindqvist, I.3
Boomsma, D.4
Heid, I.M.5
Pramstaller, P.P.6
Penninx, B.W.7
Janssens, A.C.8
Wilson, J.F.9
Spector, T.10
-
42
-
-
58149163149
-
Common variants at 30 loci contribute to polygenic dyslipidemia
-
Kathiresan, S.; Willer, C. J.; Peloso, G. M.; Demissie, S.; Musunuru, K.; Schadt, E. E.; Kaplan, L.; Bennett, D.; Li, Y.; Tanaka, T.; et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat. Genet. 2009, 41, 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
-
43
-
-
77957272611
-
A survey of sequence alignment algorithms for next-generation sequencing
-
Li, H.; Homer, N. A survey of sequence alignment algorithms for next-generation sequencing. Brief. Bioinforma. 2010, 11, 473-483.
-
(2010)
Brief. Bioinforma
, vol.11
, pp. 473-483
-
-
Li, H.1
Homer, N.2
-
44
-
-
79956314887
-
Genotype and SNP calling from next-generation sequencing data
-
Nielsen, R.; Paul, J. S.; Albrechtsen, A.; Song, Y. S. Genotype and SNP calling from next-generation sequencing data. Nat. Rev. Genet. 2011, 12, 443-451.
-
(2011)
Nat. Rev. Genet
, vol.12
, pp. 443-451
-
-
Nielsen, R.1
Paul, J.S.2
Albrechtsen, A.3
Song, Y.S.4
-
45
-
-
84975795680
-
An integrated map of genetic variation from 1092 human genomes
-
Abecasis, G. R.; Auton, A.; Brooks, L. D.; DePristo, M. A.; Durbin, R. M.; Handsaker, R. E.; Kang, H. M.; Marth, G. T.; McVean, G. A. An integrated map of genetic variation from 1092 human genomes. Nature 2012, 491, 56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
Durbin, R.M.5
Handsaker, R.E.6
Kang, H.M.7
Marth, G.T.8
McVean, G.A.9
-
46
-
-
84890389952
-
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia
-
Jabbari, J.; Jabbari, R.; Nielsen, M. W.; Holst, A. G.; Nielsen, J. B.; Haunso, S.; Tfelt-Hansen, J.; Svendsen, J. H.; Olesen, M. S. New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ. Cardiovasc. Genet. 2013, 6, 481-489.
-
(2013)
Circ. Cardiovasc. Genet
, vol.6
, pp. 481-489
-
-
Jabbari, J.1
Jabbari, R.2
Nielsen, M.W.3
Holst, A.G.4
Nielsen, J.B.5
Haunso, S.6
Tfelt-Hansen, J.7
Svendsen, J.H.8
Olesen, M.S.9
-
47
-
-
0036645605
-
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia
-
Priori, S. G.; Napolitano, C.; Memmi, M.; Colombi, B.; Drago, F.; Gasparini, M.; DeSimone, L.; Coltorti, F.; Bloise, R.; Keegan, R.; et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002, 106, 69-74.
-
(2002)
Circulation
, vol.106
, pp. 69-74
-
-
Priori, S.G.1
Napolitano, C.2
Memmi, M.3
Colombi, B.4
Drago, F.5
Gasparini, M.6
DeSimone, L.7
Coltorti, F.8
Bloise, R.9
Keegan, R.10
-
48
-
-
84867824466
-
Population-based variation in cardiomyopathy genes
-
Golbus, J. R.; Puckelwartz, M. J.; Fahrenbach, J. P.; Dellefave-Castillo, L. M.; Wolfgeher, D.; McNally, E. M. Population-based variation in cardiomyopathy genes. Circ. Cardiovasc. Genet. 2012, 5, 391-399.
-
(2012)
Circ. Cardiovasc. Genet
, vol.5
, pp. 391-399
-
-
Golbus, J.R.1
Puckelwartz, M.J.2
Fahrenbach, J.P.3
Dellefave-Castillo, L.M.4
Wolfgeher, D.5
McNally, E.M.6
-
49
-
-
84885833187
-
High prevalence of genetic variants previously associated with Brugada syndrome in new exome data
-
Risgaard, B.; Jabbari, R.; Refsgaard, L.; Holst, A. G.; Haunso, S.; Sadjadieh, A.; Winkel, B. G.; Olesen, M. S.; Tfelt-Hansen, J. High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin. Genet. 2013, 84, 489-495.
-
(2013)
Clin. Genet
, vol.84
, pp. 489-495
-
-
Risgaard, B.1
Jabbari, R.2
Refsgaard, L.3
Holst, A.G.4
Haunso, S.5
Sadjadieh, A.6
Winkel, B.G.7
Olesen, M.S.8
Tfelt-Hansen, J.9
-
50
-
-
79957975773
-
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise
-
Kapplinger, J. D.; Landstrom, A. P.; Salisbury, B. A.; Callis, T. E.; Pollevick, G. D.; Tester, D. J.; Cox, M. G.; Bhuiyan, Z.; Bikker, H.; Wiesfeld, A. C.; et al. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J. Am. Coll. Cardiol. 2011, 57, 2317-2327.
-
(2011)
J. Am. Coll. Cardiol
, vol.57
, pp. 2317-2327
-
-
Kapplinger, J.D.1
Landstrom, A.P.2
Salisbury, B.A.3
Callis, T.E.4
Pollevick, G.D.5
Tester, D.J.6
Cox, M.G.7
Bhuiyan, Z.8
Bikker, H.9
Wiesfeld, A.C.10
-
51
-
-
84882859709
-
Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data
-
Andreasen, C.; Refsgaard, L.; Nielsen, J. B.; Sajadieh, A.; Winkel, B. G.; Tfelt-Hansen, J.; Haunso, S.; Holst, A. G.; Svendsen, J. H.; Olesen, M. S. Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data. Can. J. Cardiol. 2013, 29, 1104-1109.
-
(2013)
Can. J. Cardiol
, vol.29
, pp. 1104-1109
-
-
Andreasen, C.1
Refsgaard, L.2
Nielsen, J.B.3
Sajadieh, A.4
Winkel, B.G.5
Tfelt-Hansen, J.6
Haunso, S.7
Holst, A.G.8
Svendsen, J.H.9
Olesen, M.S.10
-
52
-
-
80053942697
-
Review and metaanalysis of the frequency of familial dilated cardiomyopathy
-
Petretta, M.; Pirozzi, F.; Sasso, L.; Paglia, A.; Bonaduce, D. Review and metaanalysis of the frequency of familial dilated cardiomyopathy. Am. J. Cardiol. 2011, 108, 1171-1176.
-
(2011)
Am. J. Cardiol
, vol.108
, pp. 1171-1176
-
-
Petretta, M.1
Pirozzi, F.2
Sasso, L.3
Paglia, A.4
Bonaduce, D.5
-
53
-
-
79957486466
-
Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies
-
Meder, B.; Haas, J.; Keller, A.; Heid, C.; Just, S.; Borries, A.; Boisguerin, V.; Scharfenberger-Schmeer, M.; Stahler, P.; Beier, M.; et al. Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ. Cardiovasc. Genet. 2011, 4, 110-122.
-
(2011)
Circ. Cardiovasc. Genet
, vol.4
, pp. 110-122
-
-
Meder, B.1
Haas, J.2
Keller, A.3
Heid, C.4
Just, S.5
Borries, A.6
Boisguerin, V.7
Scharfenberger-Schmeer, M.8
Stahler, P.9
Beier, M.10
-
54
-
-
77952536025
-
A novel custom resequencing array for dilated cardiomyopathy
-
Zimmerman, R. S.; Cox, S.; Lakdawala, N. K.; Cirino, A.; Mancini-DiNardo, D.; Clark, E.; Leon, A.; Duffy, E.; White, E.; Baxter, S.; et al. A novel custom resequencing array for dilated cardiomyopathy. Genet. Med. 2010, 12, 268-278.
-
(2010)
Genet. Med
, vol.12
, pp. 268-278
-
-
Zimmerman, R.S.1
Cox, S.2
Lakdawala, N.K.3
Cirino, A.4
Mancini-DiNardo, D.5
Clark, E.6
Leon, A.7
Duffy, E.8
White, E.9
Baxter, S.10
-
55
-
-
34247599443
-
-
Available online, (accessed on 25 February 2014)
-
Partners Healthcare. Available online: http://pcpgm. partners. org/(accessed on 25 February 2014).
-
Partners Healthcare
-
-
-
56
-
-
0242331661
-
Damped elastic recoil of the titin spring in myofibrils of human myocardium
-
Opitz, C. A.; Kulke, M.; Leake, M. C.; Neagoe, C.; Hinssen, H.; Hajjar, R. J.; Linke, W. A. Damped elastic recoil of the titin spring in myofibrils of human myocardium. Proc. Natl. Acad. Sci. USA 2003, 100, 12688-12693.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 12688-12693
-
-
Opitz, C.A.1
Kulke, M.2
Leake, M.C.3
Neagoe, C.4
Hinssen, H.5
Hajjar, R.J.6
Linke, W.A.7
-
57
-
-
0028957373
-
Passive tension in cardiac muscle: Contribution of collagen, titin, microtubules, and intermediate filaments
-
Granzier, H. L.; Irving, T. C. Passive tension in cardiac muscle: Contribution of collagen, titin, microtubules, and intermediate filaments. Biophys. J. 1995, 68, 1027-1044.
-
(1995)
Biophys. J
, vol.68
, pp. 1027-1044
-
-
Granzier, H.L.1
Irving, T.C.2
-
58
-
-
0023047016
-
A physiological role for titin and nebulin in skeletal muscle
-
Horowits, R.; Kempner, E. S.; Bisher, M. E.; Podolsky, R. J. A physiological role for titin and nebulin in skeletal muscle. Nature 1986, 323, 160-164.
-
(1986)
Nature
, vol.323
, pp. 160-164
-
-
Horowits, R.1
Kempner, E.S.2
Bisher, M.E.3
Podolsky, R.J.4
-
59
-
-
0035914471
-
Structural and functional studies of titin's fn3 modules reveal conserved surface patterns and binding to myosin S1-A possible role in the Frank-Starling mechanism of the heart
-
Muhle-Goll, C.; Habeck, M.; Cazorla, O.; Nilges, M.; Labeit, S.; Granzier, H. Structural and functional studies of titin's fn3 modules reveal conserved surface patterns and binding to myosin S1-A possible role in the Frank-Starling mechanism of the heart. J. Mol. Biol. 2001, 313, 431-447.
-
(2001)
J. Mol. Biol
, vol.313
, pp. 431-447
-
-
Muhle-Goll, C.1
Habeck, M.2
Cazorla, O.3
Nilges, M.4
Labeit, S.5
Granzier, H.6
-
60
-
-
0035947754
-
Titin-based modulation of calcium sensitivity of active tension in mouse skinned cardiac myocytes
-
Cazorla, O.; Wu, Y.; Irving, T. C.; Granzier, H. Titin-based modulation of calcium sensitivity of active tension in mouse skinned cardiac myocytes. Circ. Res. 2001, 88, 1028-1035.
-
(2001)
Circ. Res
, vol.88
, pp. 1028-1035
-
-
Cazorla, O.1
Wu, Y.2
Irving, T.C.3
Granzier, H.4
-
61
-
-
0033514986
-
Familial dilated cardiomyopathy locus maps to chromosome 2q31
-
Siu, B. L.; Niimura, H.; Osborne, J. A.; Fatkin, D.; MacRae, C.; Solomon, S.; Benson, D. W.; Seidman, J. G.; Seidman, C. E. Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation 1999, 99, 1022-1026.
-
(1999)
Circulation
, vol.99
, pp. 1022-1026
-
-
Siu, B.L.1
Niimura, H.2
Osborne, J.A.3
Fatkin, D.4
McRae, C.5
Solomon, S.6
Benson, D.W.7
Seidman, J.G.8
Seidman, C.E.9
-
62
-
-
33744495726
-
Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy
-
Gerull, B.; Atherton, J.; Geupel, A.; Sasse-Klaassen, S.; Heuser, A.; Frenneaux, M.; McNabb, M.; Granzier, H.; Labeit, S.; Thierfelder, L. Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. J. Mol. Med. 2006, 84, 478-483.
-
(2006)
J. Mol. Med
, vol.84
, pp. 478-483
-
-
Gerull, B.1
Atherton, J.2
Geupel, A.3
Sasse-Klaassen, S.4
Heuser, A.5
Frenneaux, M.6
McNabb, M.7
Granzier, H.8
Labeit, S.9
Thierfelder, L.10
-
63
-
-
0036478897
-
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
-
Gerull, B.; Gramlich, M.; Atherton, J.; McNabb, M.; Trombitas, K.; Sasse-Klaassen, S.; Seidman, J. G.; Seidman, C.; Granzier, H.; Labeit, S.; et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat. Genet. 2002, 30, 201-204.
-
(2002)
Nat. Genet
, vol.30
, pp. 201-204
-
-
Gerull, B.1
Gramlich, M.2
Atherton, J.3
McNabb, M.4
Trombitas, K.5
Sasse-Klaassen, S.6
Seidman, J.G.7
Seidman, C.8
Granzier, H.9
Labeit, S.10
-
64
-
-
84863116641
-
Truncations of titin causing dilated cardiomyopathy
-
Herman, D. S.; Lam, L.; Taylor, M. R.; Wang, L.; Teekakirikul, P.; Christodoulou, D.; Conner, L.; DePalma, S. R.; McDonough, B.; Sparks, E.; et al. Truncations of titin causing dilated cardiomyopathy. N. Engl. J. Med. 2012, 366, 619-628.
-
(2012)
N. Engl. J. Med
, vol.366
, pp. 619-628
-
-
Herman, D.S.1
Lam, L.2
Taylor, M.R.3
Wang, L.4
Teekakirikul, P.5
Christodoulou, D.6
Conner, L.7
DePalma, S.R.8
McDonough, B.9
Sparks, E.10
-
65
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng, S. B.; Turner, E. H.; Robertson, P. D.; Flygare, S. D.; Bigham, A. W.; Lee, C.; Shaffer, T.; Wong, M.; Bhattacharjee, A.; Eichler, E. E.; et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009, 461, 272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
Shaffer, T.7
Wong, M.8
Bhattacharjee, A.9
Eichler, E.E.10
-
66
-
-
80052595393
-
What can exome sequencing do for you?
-
Majewski, J.; Schwartzentruber, J.; Lalonde, E.; Montpetit, A.; Jabado, N. What can exome sequencing do for you? J. Med. Genet. 2011, 48, 580-589.
-
(2011)
J. Med. Genet
, vol.48
, pp. 580-589
-
-
Majewski, J.1
Schwartzentruber, J.2
Lalonde, E.3
Montpetit, A.4
Jabado, N.5
-
67
-
-
84897498437
-
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy
-
Campbell, N.; Sinagra, G.; Jones, K. L.; Slavov, D.; Gowan, K.; Merlo, M.; Carniel, E.; Fain, P. R.; Aragona, P.; di Lenarda, A.; et al. Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. PLoS One 2013, 8, e78104.
-
(2013)
PLoS One
, vol.8
-
-
Campbell, N.1
Sinagra, G.2
Jones, K.L.3
Slavov, D.4
Gowan, K.5
Merlo, M.6
Carniel, E.7
Fain, P.R.8
Aragona, P.9
di Lenarda, A.10
-
68
-
-
84884506668
-
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy
-
Wells, Q. S.; Becker, J. R.; Su, Y. R.; Mosley, J. D.; Weeke, P.; D'Aoust, L.; Ausborn, N. L.; Ramirez, A. H.; Pfotenhauer, J. P.; Naftilan, A. J.; et al. Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. Circ. Cardiovasc. Genet. 2013, 6, 317-326.
-
(2013)
Circ. Cardiovasc. Genet
, vol.6
, pp. 317-326
-
-
Wells, Q.S.1
Becker, J.R.2
Su, Y.R.3
Mosley, J.D.4
Weeke, P.5
D'Aoust, L.6
Ausborn, N.L.7
Ramirez, A.H.8
Pfotenhauer, J.P.9
Naftilan, A.J.10
-
69
-
-
80051547469
-
A probabilistic disease-gene finder for personal genomes
-
Yandell, M.; Huff, C.; Hu, H.; Singleton, M.; Moore, B.; Xing, J.; Jorde, L. B.; Reese, M. G. A probabilistic disease-gene finder for personal genomes. Genome Res. 2011, 21, 1529-1542.
-
(2011)
Genome Res
, vol.21
, pp. 1529-1542
-
-
Yandell, M.1
Huff, C.2
Hu, H.3
Singleton, M.4
Moore, B.5
Xing, J.6
Jorde, L.B.7
Reese, M.G.8
-
70
-
-
77957270156
-
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy
-
Li, D.; Morales, A.; Gonzalez-Quintana, J.; Norton, N.; Siegfried, J. D.; Hofmeyer, M.; Hershberger, R. E. Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. Clin. Transl. Sci. 2010, 3, 90-97.
-
(2010)
Clin. Transl. Sci
, vol.3
, pp. 90-97
-
-
Li, D.1
Morales, A.2
Gonzalez-Quintana, J.3
Norton, N.4
Siegfried, J.D.5
Hofmeyer, M.6
Hershberger, R.E.7
-
71
-
-
78651237647
-
Identifying a high fraction of the human genome to be under selective constraint using GERP++
-
Davydov, E. V.; Goode, D. L.; Sirota, M.; Cooper, G. M.; Sidow, A.; Batzoglou, S. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput. Biol. 2010, 6, e1001025.
-
(2010)
PLoS Comput. Biol
, vol.6
-
-
Davydov, E.V.1
Goode, D.L.2
Sirota, M.3
Cooper, G.M.4
Sidow, A.5
Batzoglou, S.6
-
72
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I. A.; Schmidt, S.; Peshkin, L.; Ramensky, V. E.; Gerasimova, A.; Bork, P.; Kondrashov, A. S.; Sunyaev, S. R. A method and server for predicting damaging missense mutations. Nat. Methods 2010, 7, 248-249.
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
73
-
-
80052299710
-
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy
-
Millat, G.; Bouvagnet, P.; Chevalier, P.; Sebbag, L.; Dulac, A.; Dauphin, C.; Jouk, P. S.; Delrue, M. A.; Thambo, J. B.; Le Metayer, P.; et al. Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. Eur. J. Med. Genet. 2011, 54, e570-e575.
-
(2011)
Eur. J. Med. Genet
, vol.54
-
-
Millat, G.1
Bouvagnet, P.2
Chevalier, P.3
Sebbag, L.4
Dulac, A.5
Dauphin, C.6
Jouk, P.S.7
Delrue, M.A.8
Thambo, J.B.9
Le Metayer, P.10
-
74
-
-
74049128182
-
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: The distinctive natural history of sarcomeric dilated cardiomyopathy
-
Lakdawala, N. K.; Dellefave, L.; Redwood, C. S.; Sparks, E.; Cirino, A. L.; Depalma, S.; Colan, S. D.; Funke, B.; Zimmerman, R. S.; Robinson, P.; et al. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: The distinctive natural history of sarcomeric dilated cardiomyopathy. J. Am. Coll. Cardiol. 2010, 55, 320-329.
-
(2010)
J. Am. Coll. Cardiol
, vol.55
, pp. 320-329
-
-
Lakdawala, N.K.1
Dellefave, L.2
Redwood, C.S.3
Sparks, E.4
Cirino, A.L.5
Depalma, S.6
Colan, S.D.7
Funke, B.8
Zimmerman, R.S.9
Robinson, P.10
-
75
-
-
84884587480
-
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
-
Roncarati, R.; Viviani Anselmi, C.; Krawitz, P.; Lattanzi, G.; von Kodolitsch, Y.; Perrot, A.; di Pasquale, E.; Papa, L.; Portararo, P.; Columbaro, M.; et al. Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur. J. Hum. Genet. 2013, 21, 1105-1111.
-
(2013)
Eur. J. Hum. Genet
, vol.21
, pp. 1105-1111
-
-
Roncarati, R.1
Viviani Anselmi, C.2
Krawitz, P.3
Lattanzi, G.4
von Kodolitsch, Y.5
Perrot, A.6
di Pasquale, E.7
Papa, L.8
Portararo, P.9
Columbaro, M.10
-
76
-
-
84954358609
-
The Human Phenotype Ontology: A tool for annotating and analyzing human hereditary disease
-
Robinson, P. N.; Kohler, S.; Bauer, S.; Seelow, D.; Horn, D.; Mundlos, S. The Human Phenotype Ontology: A tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 2008, 83, 610-615.
-
(2008)
Am. J. Hum. Genet
, vol.83
, pp. 610-615
-
-
Robinson, P.N.1
Kohler, S.2
Bauer, S.3
Seelow, D.4
Horn, D.5
Mundlos, S.6
-
77
-
-
57949113000
-
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy
-
Perrot, A.; Hussein, S.; Ruppert, V.; Schmidt, H. H.; Wehnert, M. S.; Duong, N. T.; Posch, M. G.; Panek, A.; Dietz, R.; Kindermann, I.; et al. Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. Basic Res. Cardiol. 2009, 104, 90-99.
-
(2009)
Basic Res. Cardiol
, vol.104
, pp. 90-99
-
-
Perrot, A.1
Hussein, S.2
Ruppert, V.3
Schmidt, H.H.4
Wehnert, M.S.5
Duong, N.T.6
Posch, M.G.7
Panek, A.8
Dietz, R.9
Kindermann, I.10
-
78
-
-
84856079178
-
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy
-
Theis, J. L.; Sharpe, K. M.; Matsumoto, M. E.; Chai, H. S.; Nair, A. A.; Theis, J. D.; de Andrade, M.; Wieben, E. D.; Michels, V. V.; Olson, T. M. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Circ. Cardiovasc. Genet. 2011, 4, 585-594.
-
(2011)
Circ. Cardiovasc. Genet
, vol.4
, pp. 585-594
-
-
Theis, J.L.1
Sharpe, K.M.2
Matsumoto, M.E.3
Chai, H.S.4
Nair, A.A.5
Theis, J.D.6
de Andrade, M.7
Wieben, E.D.8
Michels, V.V.9
Olson, T.M.10
-
79
-
-
77956643239
-
Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers
-
Vermeulen, M.; Eberl, H. C.; Matarese, F.; Marks, H.; Denissov, S.; Butter, F.; Lee, K. K.; Olsen, J. V.; Hyman, A. A.; Stunnenberg, H. G.; et al. Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers. Cell 2010, 142, 967-980.
-
(2010)
Cell
, vol.142
, pp. 967-980
-
-
Vermeulen, M.1
Eberl, H.C.2
Matarese, F.3
Marks, H.4
Denissov, S.5
Butter, F.6
Lee, K.K.7
Olsen, J.V.8
Hyman, A.A.9
Stunnenberg, H.G.10
-
80
-
-
79954672317
-
Genome structural variation discovery and genotyping
-
Alkan, C.; Coe, B. P.; Eichler, E. E. Genome structural variation discovery and genotyping. Nat. Rev. Genet. 2011, 12, 363-376.
-
(2011)
Nat. Rev. Genet
, vol.12
, pp. 363-376
-
-
Alkan, C.1
Coe, B.P.2
Eichler, E.E.3
-
81
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate, A. J.; Feuk, L.; Rivera, M. N.; Listewnik, M. L.; Donahoe, P. K.; Qi, Y.; Scherer, S. W.; Lee, C. Detection of large-scale variation in the human genome. Nat. Genet. 2004, 36, 949-951.
-
(2004)
Nat. Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
82
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun, E.; Sharp, A. J.; Bailey, J. A.; Kaul, R.; Morrison, V. A.; Pertz, L. M.; Haugen, E.; Hayden, H.; Albertson, D.; Pinkel, D.; et al. Fine-scale structural variation of the human genome. Nat. Genet. 2005, 37, 727-732.
-
(2005)
Nat. Genet
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
Sharp, A.J.2
Bailey, J.A.3
Kaul, R.4
Morrison, V.A.5
Pertz, L.M.6
Haugen, E.7
Hayden, H.8
Albertson, D.9
Pinkel, D.10
-
83
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd, J. M.; Cooper, G. M.; Donahue, W. F.; Hayden, H. S.; Sampas, N.; Graves, T.; Hansen, N.; Teague, B.; Alkan, C.; Antonacci, F.; et al. Mapping and sequencing of structural variation from eight human genomes. Nature 2008, 453, 56-64.
-
(2008)
Nature
, vol.453
, pp. 56-64
-
-
Kidd, J.M.1
Cooper, G.M.2
Donahue, W.F.3
Hayden, H.S.4
Sampas, N.5
Graves, T.6
Hansen, N.7
Teague, B.8
Alkan, C.9
Antonacci, F.10
-
84
-
-
84864609288
-
Copy number variation detection and genotyping from exome sequence data
-
Krumm, N.; Sudmant, P. H.; Ko, A.; O'Roak, B. J.; Malig, M.; Coe, B. P.; Quinlan, A. R.; Nickerson, D. A.; Eichler, E. E. Copy number variation detection and genotyping from exome sequence data. Genome Res. 2012, 22, 1525-1532.
-
(2012)
Genome Res
, vol.22
, pp. 1525-1532
-
-
Krumm, N.1
Sudmant, P.H.2
Ko, A.3
O'Roak, B.J.4
Malig, M.5
Coe, B.P.6
Quinlan, A.R.7
Nickerson, D.A.8
Eichler, E.E.9
-
85
-
-
84886541754
-
EXCAVATOR: Detecting copy number variants from whole-exome sequencing data
-
Magi, A.; Tattini, L.; Cifola, I.; D'Aurizio, R.; Benelli, M.; Mangano, E.; Battaglia, C.; Bonora, E.; Kurg, A.; Seri, M.; et al. EXCAVATOR: Detecting copy number variants from whole-exome sequencing data. Genome Biol. 2013, 14, R120.
-
(2013)
Genome Biol
, vol.14
-
-
Magi, A.1
Tattini, L.2
Cifola, I.3
D'Aurizio, R.4
Benelli, M.5
Mangano, E.6
Battaglia, C.7
Bonora, E.8
Kurg, A.9
Seri, M.10
-
86
-
-
22444437609
-
Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis
-
Zhao, Y.; Samal, E.; Srivastava, D. Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis. Nature 2005, 436, 214-220.
-
(2005)
Nature
, vol.436
, pp. 214-220
-
-
Zhao, Y.1
Samal, E.2
Srivastava, D.3
-
87
-
-
34547579291
-
MicroRNAs in the human heart: A clue to fetal gene reprogramming in heart failure
-
Thum, T.; Galuppo, P.; Wolf, C.; Fiedler, J.; Kneitz, S.; van Laake, L. W.; Doevendans, P. A.; Mummery, C. L.; Borlak, J.; Haverich, A.; et al. MicroRNAs in the human heart: A clue to fetal gene reprogramming in heart failure. Circulation 2007, 116, 258-267.
-
(2007)
Circulation
, vol.116
, pp. 258-267
-
-
Thum, T.1
Galuppo, P.2
Wolf, C.3
Fiedler, J.4
Kneitz, S.5
van Laake, L.W.6
Doevendans, P.A.7
Mummery, C.L.8
Borlak, J.9
Haverich, A.10
-
88
-
-
34147153781
-
Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2
-
Zhao, Y.; Ransom, J. F.; Li, A.; Vedantham, V.; von Drehle, M.; Muth, A. N.; Tsuchihashi, T.; McManus, M. T.; Schwartz, R. J.; Srivastava, D. Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2. Cell 2007, 129, 303-317.
-
(2007)
Cell
, vol.129
, pp. 303-317
-
-
Zhao, Y.1
Ransom, J.F.2
Li, A.3
Vedantham, V.4
von Drehle, M.5
Muth, A.N.6
Tsuchihashi, T.7
McManus, M.T.8
Schwartz, R.J.9
Srivastava, D.10
-
89
-
-
34247589595
-
Control of stress-dependent cardiac growth and gene expression by a microRNA
-
Van Rooij, E.; Sutherland, L. B.; Qi, X.; Richardson, J. A.; Hill, J.; Olson, E. N. Control of stress-dependent cardiac growth and gene expression by a microRNA. Science 2007, 316, 575-579.
-
(2007)
Science
, vol.316
, pp. 575-579
-
-
Van Rooij, E.1
Sutherland, L.B.2
Qi, X.3
Richardson, J.A.4
Hill, J.5
Olson, E.N.6
-
90
-
-
70349202176
-
MicroRNA-208a is a regulator of cardiac hypertrophy and conduction in mice
-
Callis, T. E.; Pandya, K.; Seok, H. Y.; Tang, R. H.; Tatsuguchi, M.; Huang, Z. P.; Chen, J. F.; Deng, Z.; Gunn, B.; Shumate, J.; et al. MicroRNA-208a is a regulator of cardiac hypertrophy and conduction in mice. J. Clin. Invest. 2009, 119, 2772-2786.
-
(2009)
J. Clin. Invest
, vol.119
, pp. 2772-2786
-
-
Callis, T.E.1
Pandya, K.2
Seok, H.Y.3
Tang, R.H.4
Tatsuguchi, M.5
Huang, Z.P.6
Chen, J.F.7
Deng, Z.8
Gunn, B.9
Shumate, J.10
-
91
-
-
80053567152
-
Therapeutic inhibition of miR-208a improves cardiac function and survival during heart failure
-
Montgomery, R. L.; Hullinger, T. G.; Semus, H. M.; Dickinson, B. A.; Seto, A. G.; Lynch, J. M.; Stack, C.; Latimer, P. A.; Olson, E. N.; van Rooij, E. Therapeutic inhibition of miR-208a improves cardiac function and survival during heart failure. Circulation 2011, 124, 1537-1547.
-
(2011)
Circulation
, vol.124
, pp. 1537-1547
-
-
Montgomery, R.L.1
Hullinger, T.G.2
Semus, H.M.3
Dickinson, B.A.4
Seto, A.G.5
Lynch, J.M.6
Stack, C.7
Latimer, P.A.8
Olson, E.N.9
van Rooij, E.10
-
92
-
-
70349254444
-
Loss of cardiac microRNA-mediated regulation leads to dilated cardiomyopathy and heart failure
-
Rao, P. K.; Toyama, Y.; Chiang, H. R.; Gupta, S.; Bauer, M.; Medvid, R.; Reinhardt, F.; Liao, R.; Krieger, M.; Jaenisch, R.; et al. Loss of cardiac microRNA-mediated regulation leads to dilated cardiomyopathy and heart failure. Circ. Res. 2009, 105, 585-594.
-
(2009)
Circ. Res
, vol.105
, pp. 585-594
-
-
Rao, P.K.1
Toyama, Y.2
Chiang, H.R.3
Gupta, S.4
Bauer, M.5
Medvid, R.6
Reinhardt, F.7
Liao, R.8
Krieger, M.9
Jaenisch, R.10
-
93
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
Bernstein, B. E.; Birney, E.; Dunham, I.; Green, E. D.; Gunter, C.; Snyder, M. An integrated encyclopedia of DNA elements in the human genome. Nature 2012, 489, 57-74.
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
Bernstein, B.E.1
Birney, E.2
Dunham, I.3
Green, E.D.4
Gunter, C.5
Snyder, M.6
-
94
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff, L. A.; Sethupathy, P.; Junkins, H. A.; Ramos, E. M.; Mehta, J. P.; Collins, F. S.; Manolio, T. A. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 2009, 106, 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
-
95
-
-
84880934152
-
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
-
Wang, K.; Kim, C.; Bradfield, J.; Guo, Y.; Toskala, E.; Otieno, F. G.; Hou, C.; Thomas, K.; Cardinale, C.; Lyon, G. J.; et al. Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. Genome Med. 2013, 5, 67.
-
(2013)
Genome Med
, vol.5
, pp. 67
-
-
Wang, K.1
Kim, C.2
Bradfield, J.3
Guo, Y.4
Toskala, E.5
Otieno, F.G.6
Hou, C.7
Thomas, K.8
Cardinale, C.9
Lyon, G.J.10
-
96
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang, K.; Li, M.; Hakonarson, H. ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010, 38, e164.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
97
-
-
84861548193
-
Summarizing and correcting the GC content bias in high-throughput sequencing
-
Benjamini, Y.; Speed, T. P. Summarizing and correcting the GC content bias in high-throughput sequencing. Nucleic Acids Res. 2012, 40, e72.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Benjamini, Y.1
Speed, T.P.2
-
98
-
-
84857405493
-
Challenges in whole exome sequencing: An example from hereditary deafness
-
Sirmaci, A.; Edwards, Y. J.; Akay, H.; Tekin, M. Challenges in whole exome sequencing: An example from hereditary deafness. PLoS One 2012, 7, e32000.
-
(2012)
PLoS One
, vol.7
-
-
Sirmaci, A.1
Edwards, Y.J.2
Akay, H.3
Tekin, M.4
-
99
-
-
23744458086
-
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
-
Siepel, A.; Bejerano, G.; Pedersen, J. S.; Hinrichs, A. S.; Hou, M.; Rosenbloom, K.; Clawson, H.; Spieth, J.; Hillier, L. W.; Richards, S.; et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 2005, 15, 1034-1050.
-
(2005)
Genome Res
, vol.15
, pp. 1034-1050
-
-
Siepel, A.1
Bejerano, G.2
Pedersen, J.S.3
Hinrichs, A.S.4
Hou, M.5
Rosenbloom, K.6
Clawson, H.7
Spieth, J.8
Hillier, L.W.9
Richards, S.10
-
100
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng, P. C.; Henikoff, S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003, 31, 3812-3814.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
101
-
-
22244452677
-
Distribution and intensity of constraint in mammalian genomic sequence
-
Cooper, G. M.; Stone, E. A.; Asimenos, G.; Green, E. D.; Batzoglou, S.; Sidow, A. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005, 15, 901-913.
-
(2005)
Genome Res
, vol.15
, pp. 901-913
-
-
Cooper, G.M.1
Stone, E.A.2
Asimenos, G.3
Green, E.D.4
Batzoglou, S.5
Sidow, A.6
-
102
-
-
0037249501
-
PANTHER: A browsable database of gene products organized by biological function, using curated protein family and subfamily classification
-
Thomas, P. D.; Kejariwal, A.; Campbell, M. J.; Mi, H.; Diemer, K.; Guo, N.; Ladunga, I.; Ulitsky-Lazareva, B.; Muruganujan, A.; Rabkin, S.; et al. PANTHER: A browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucleic Acids Res. 2003, 31, 334-341.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 334-341
-
-
Thomas, P.D.1
Kejariwal, A.2
Campbell, M.J.3
Mi, H.4
Diemer, K.5
Guo, N.6
Ladunga, I.7
Ulitsky-Lazareva, B.8
Muruganujan, A.9
Rabkin, S.10
-
103
-
-
77954257799
-
ConSurf 2010: Calculating evolutionary conservation in sequence and structure of proteins and nucleic acids
-
Ashkenazy, H.; Erez, E.; Martz, E.; Pupko, T.; Ben-Tal, N. ConSurf 2010: Calculating evolutionary conservation in sequence and structure of proteins and nucleic acids. Nucleic Acids Res. 2010, 38, W529-W533.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Ashkenazy, H.1
Erez, E.2
Martz, E.3
Pupko, T.4
Ben-Tal, N.5
-
104
-
-
2442441507
-
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
-
Yeo, G.; Burge, C. B. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol. 2004, 11, 377-394.
-
(2004)
J. Comput. Biol
, vol.11
, pp. 377-394
-
-
Yeo, G.1
Burge, C.B.2
-
105
-
-
33646254125
-
Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group
-
Bookman, E. B.; Langehorne, A. A.; Eckfeldt, J. H.; Glass, K. C.; Jarvik, G. P.; Klag, M.; Koski, G.; Motulsky, A.; Wilfond, B.; Manolio, T. A.; et al. Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group. Am. J. Med. Genet. A 2006, 140, 1033-1040.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, pp. 1033-1040
-
-
Bookman, E.B.1
Langehorne, A.A.2
Eckfeldt, J.H.3
Glass, K.C.4
Jarvik, G.P.5
Klag, M.6
Koski, G.7
Motulsky, A.8
Wilfond, B.9
Manolio, T.A.10
-
106
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green, R. C.; Berg, J. S.; Grody, W. W.; Kalia, S. S.; Korf, B. R.; Martin, C. L.; McGuire, A. L.; Nussbaum, R. L.; O'Daniel, J. M.; Ormond, K. E.; et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 2013, 15, 565-574.
-
(2013)
Genet. Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
Kalia, S.S.4
Korf, B.R.5
Martin, C.L.6
McGuire, A.L.7
Nussbaum, R.L.8
O'Daniel, J.M.9
Ormond, K.E.10
|