-
1
-
-
84873855851
-
Genetic mutations and mechanisms in dilated cardiomyopathy
-
E. M. McNally, J. R. Golbus, M. J. Puckelwartz, Genetic mutations and mechanisms in dilated cardiomyopathy. J. Clin. Invest. 123, 19-26 (2013).
-
(2013)
J. Clin. Invest
, vol.123
, pp. 19-26
-
-
McNally, E.M.1
Golbus, J.R.2
Puckelwartz, M.J.3
-
2
-
-
84883163817
-
Dilated cardiomyopathy: The complexity of a diverse genetic architecture
-
R. E. Hershberger, D. J. Hedges, A. Morales, Dilated cardiomyopathy: The complexity of a diverse genetic architecture. Nat. Rev. Cardiol. 10, 531-547 (2013).
-
(2013)
Nat. Rev. Cardiol.
, vol.10
, pp. 531-547
-
-
Hershberger, R.E.1
Hedges, D.J.2
Morales, A.3
-
3
-
-
84856217893
-
Next generation sequencing for clinical diagnostics and personalised medicine: Implications for the next generation cardiologist
-
J. S. Ware, A. M. Roberts, S. A. Cook, Next generation sequencing for clinical diagnostics and personalised medicine: Implications for the next generation cardiologist. Heart 98, 276-281 (2012).
-
(2012)
Heart
, vol.98
, pp. 276-281
-
-
Ware, J.S.1
Roberts, A.M.2
Cook, S.A.3
-
4
-
-
84859218872
-
Genetic testing for dilated cardiomyopathy in clinical practice
-
N. K. Lakdawala, B. H. Funke, S. Baxter, A. L. Cirino, A. E. Roberts, D. P. Judge, N. Johnson, N. J. Mendelsohn, C. Morel, M. Care, W. K. Chung, C. Jones, A. Psychogios, E. Duffy, H. L. Rehm, E. White, J. G. Seidman, C. E. Seidman, C. Y. Ho, Genetic testing for dilated cardiomyopathy in clinical practice. J. Card. Fail. 18, 296-303 (2012).
-
(2012)
J. Card. Fail.
, vol.18
, pp. 296-303
-
-
Lakdawala, N.K.1
Funke, B.H.2
Baxter, S.3
Cirino, A.L.4
Roberts, A.E.5
Judge, D.P.6
Johnson, N.7
Mendelsohn, N.J.8
Morel, C.9
Care, M.10
Chung, W.K.11
Jones, C.12
Psychogios, A.13
Duffy, E.14
Rehm, H.L.15
White, E.16
Seidman, J.G.17
Seidman, C.E.18
Ho, C.Y.19
-
5
-
-
84879693681
-
Return of genetic results in the familial dilated cardiomyopathy research project
-
J. D. Siegfried, A. Morales, J. D. Kushner, E. Burkett, J. Cowan, A. C. Mauro, G. S. Huggins, D. Li, N. Norton, R. E. Hershberger, Return of genetic results in the familial dilated cardiomyopathy research project. J. Genet. Couns. 22, 164-174 (2013).
-
(2013)
J. Genet. Couns.
, vol.22
, pp. 164-174
-
-
Siegfried, J.D.1
Morales, A.2
Kushner, J.D.3
Burkett, E.4
Cowan, J.5
Mauro, A.C.6
Huggins, G.S.7
Li, D.8
Norton, N.9
Hershberger, R.E.10
-
6
-
-
79960867817
-
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
-
M. J. Ackerman, S. G. Priori, S. Willems, C. Berul, R. Brugada, H. Calkins, A. J. Camm, P. T. Ellinor, M. Gollob, R. Hamilton, R. E. Hershberger, D. P. Judge, H. Le Marec, W. J. McKenna, E. Schulze-Bahr, C. Semsarian, J. A. Towbin, H. Watkins, A. Wilde, C. Wolpert, D. P. Zipes, HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 8, 1308-1339 (2011).
-
(2011)
Heart Rhythm
, vol.8
, pp. 1308-1339
-
-
Ackerman, M.J.1
Priori, S.G.2
Willems, S.3
Berul, C.4
Brugada, R.5
Calkins, H.6
Camm, A.J.7
Ellinor, P.T.8
Gollob, M.9
Hamilton, R.10
Hershberger, R.E.11
Judge, D.P.12
Le Marec, H.13
McKenna, W.J.14
Schulze-Bahr, E.15
Semsarian, C.16
Towbin, J.A.17
Watkins, H.18
Wilde, A.19
Wolpert, C.20
Zipes, D.P.21
more..
-
7
-
-
66749148353
-
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
-
P. S. Tarpey, R. Smith, E. Pleasance, A. Whibley, S. Edkins, C. Hardy, S. O'Meara, C. Latimer, E. Dicks, A. Menzies, P. Stephens, M. Blow, C. Greenman, Y. Xue, C. Tyler-Smith, D. Thompson, K. Gray, J. Andrews, S. Barthorpe, G. Buck, J. Cole, R. Dunmore, D. Jones, M. Maddison, T. Mironenko, R. Turner, K. Turrell, J. Varian, S. West, S. Widaa, P. Wray, J. Teague, A. Butler, A. Jenkinson, M. Jia, D. Richardson, R. Shepherd, R. Wooster, M. I. Tejada, F. Martinez, G. Carvill, R. Goliath, A. P. de Brouwer, H. van Bokhoven, H. Van Esch, J. Chelly, M. Raynaud, H. H. Ropers, F. E. Abidi, A. K. Srivastava, J. Cox, Y. Luo, U. Mallya, J. Moon, J. Parnau, S. Mohammed, J. L. Tolmie, C. Shoubridge, M. Corbett, A. Gardner, E. Haan, S. Rujirabanjerd, M. Shaw, L. Vandeleur, T. Fullston, D. F. Easton, J. Boyle, M. Partington, A. Hackett, M. Field, C. Skinner, R. E. Stevenson, M. Bobrow, G. Turner, C. E. Schwartz, J. Gecz, F. L. Raymond, P. A. Futreal, M. R. Stratton, A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet. 41, 535-543 (2009).
-
(2009)
Nat. Genet.
, vol.41
, pp. 535-543
-
-
Tarpey, P.S.1
Smith, R.2
Pleasance, E.3
Whibley, A.4
Edkins, S.5
Hardy, C.6
O'Meara, S.7
Latimer, C.8
Dicks, E.9
Menzies, A.10
Stephens, P.11
Blow, M.12
Greenman, C.13
Xue, Y.14
Tyler-Smith, C.15
Thompson, D.16
Gray, K.17
Andrews, J.18
Barthorpe, S.19
Buck, G.20
Cole, J.21
Dunmore, R.22
Jones, D.23
Maddison, M.24
Mironenko, T.25
Turner, R.26
Turrell, K.27
Varian, J.28
West, S.29
Widaa, S.30
Wray, P.31
Teague, J.32
Butler, A.33
Jenkinson, A.34
Jia, M.35
Richardson, D.36
Shepherd, R.37
Wooster, R.38
Tejada, M.I.39
Martinez, F.40
Carvill, G.41
Goliath, R.42
De Brouwer, A.P.43
Van Bokhoven, H.44
Van Esch, H.45
Chelly, J.46
Raynaud, M.47
Ropers, H.H.48
Abidi, F.E.49
Srivastava, A.K.50
Cox, J.51
Luo, Y.52
Mallya, U.53
Moon, J.54
Parnau, J.55
Mohammed, S.56
Tolmie, J.L.57
Shoubridge, C.58
Corbett, M.59
Gardner, A.60
Haan, E.61
Rujirabanjerd, S.62
Shaw, M.63
Vandeleur, L.64
Fullston, T.65
Easton, D.F.66
Boyle, J.67
Partington, M.68
Hackett, A.69
Field, M.70
Skinner, C.71
Stevenson, R.E.72
Bobrow, M.73
Turner, G.74
Schwartz, C.E.75
Gecz, J.76
Raymond, F.L.77
Futreal, P.A.78
Stratton, M.R.79
more..
-
8
-
-
84866088969
-
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts
-
A. G. Bick, J. Flannick, K. Ito, S. Cheng, R. S. Vasan, M. G. Parfenov, D. S. Herman, S. R. DePalma, N. Gupta, S. B. Gabriel, B. H. Funke, H. L. Rehm, E. J. Benjamin, J. Aragam, H. A. Taylor Jr., E. R. Fox, C. Newton-Cheh, S. Kathiresan, C. J. O'Donnell, J. G. Wilson, D. M. Altshuler, J. N. Hirschhorn, J. G. Seidman, C. Seidman, Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am. J. Hum. Genet. 91, 513-519 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 513-519
-
-
Bick, A.G.1
Flannick, J.2
Ito, K.3
Cheng, S.4
Vasan, R.S.5
Parfenov, M.G.6
Herman, D.S.7
DePalma, S.R.8
Gupta, N.9
Gabriel, S.B.10
Funke, B.H.11
Rehm, H.L.12
Benjamin, E.J.13
Aragam, J.14
Taylor, H.A.15
Fox, E.R.16
Newton-Cheh, C.17
Kathiresan, S.18
O'Donnell, C.J.19
Wilson, J.G.20
Altshuler, D.M.21
Hirschhorn, J.N.22
Seidman, J.G.23
Seidman, C.24
more..
-
9
-
-
84887110294
-
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
-
J. Flannick, N. L. Beer, A. G. Bick, V. Agarwala, J. Molnes, N. Gupta, N. P. Burtt, J. C. Florez, J. B. Meigs, H. Taylor, V. Lyssenko, H. Irgens, E. Fox, F. Burslem, S. Johansson, M. J. Brosnan, J. K. Trimmer, C. Newton-Cheh, T. Tuomi, A. Molven, J. G. Wilson, C. J. O'Donnell, S. Kathiresan, J. N. Hirschhorn, P. R. Njølstad, T. Rolph, J. G. Seidman, S. Gabriel, D. R. Cox, C. E. Seidman, L. Groop, D. Altshuler, Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat. Genet. 45, 1380-1385 (2013).
-
(2013)
Nat. Genet.
, vol.45
, pp. 1380-1385
-
-
Flannick, J.1
Beer, N.L.2
Bick, A.G.3
Agarwala, V.4
Molnes, J.5
Gupta, N.6
Burtt, N.P.7
Florez, J.C.8
Meigs, J.B.9
Taylor, H.10
Lyssenko, V.11
Irgens, H.12
Fox, E.13
Burslem, F.14
Johansson, S.15
Brosnan, M.J.16
Trimmer, J.K.17
Newton-Cheh, C.18
Tuomi, T.19
Molven, A.20
Wilson, J.G.21
O'Donnell, C.J.22
Kathiresan, S.23
Hirschhorn, J.N.24
Njølstad, P.R.25
Rolph, T.26
Seidman, J.G.27
Gabriel, S.28
Cox, D.R.29
Seidman, C.E.30
Groop, L.31
Altshuler, D.32
more..
-
10
-
-
0033514986
-
Familial dilated cardiomyopathy locus maps to chromosome 2q31
-
B. L. Siu, H. Niimura, J. A. Osborne, D. Fatkin, C. MacRae, S. Solomon, D. W. Benson, J. G. Seidman, C. E. Seidman, Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation 99, 1022-1026 (1999).
-
(1999)
Circulation
, vol.99
, pp. 1022-1026
-
-
Siu, B.L.1
Niimura, H.2
Osborne, J.A.3
Fatkin, D.4
MacRae, C.5
Solomon, S.6
Benson, D.W.7
Seidman, J.G.8
Seidman, C.E.9
-
11
-
-
0036478897
-
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
-
B. Gerull, M. Gramlich, J. Atherton, M. McNabb, K. Trombitas, S. Sasse-Klaassen, J. G. Seidman, C. Seidman, H. Granzier, S. Labeit, M. Frenneaux, L. Thierfelder, Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat. Genet. 30, 201-204 (2002).
-
(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
Frenneaux, M.11
Thierfelder, L.12
-
12
-
-
84863116641
-
Truncations of titin causing dilated cardiomyopathy
-
D. S. Herman, L. Lam, M. R. Taylor, L. Wang, P. Teekakirikul, D. Christodoulou, L. Conner, S. R. DePalma, B. McDonough, E. Sparks, D. L. Teodorescu, A. L. Cirino, N. R. Banner, D. J. Pennell, S. Graw, M. Merlo, A. Di Lenarda, G. Sinagra, J. M. Bos, M. J. Ackerman, R. N. Mitchell, C. E. Murry, N. K. Lakdawala, C. Y. Ho, P. J. Barton, S. A. Cook, L. Mestroni, J. G. Seidman, C. E. Seidman, Truncations of titin causing dilated cardiomyopathy. N. Engl. J. Med. 366, 619-628 (2012).
-
(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
Teodorescu, D.L.11
Cirino, A.L.12
Banner, N.R.13
Pennell, D.J.14
Graw, S.15
Merlo, M.16
Di Lenarda, A.17
Sinagra, G.18
Bos, J.M.19
Ackerman, M.J.20
Mitchell, R.N.21
Murry, C.E.22
Lakdawala, N.K.23
Ho, C.Y.24
Barton, P.J.25
Cook, S.A.26
Mestroni, L.27
Seidman, J.G.28
Seidman, C.E.29
more..
-
13
-
-
84867824466
-
Population-based variation in cardiomyopathy genes
-
J. R. Golbus, M. J. Puckelwartz, J. P. Fahrenbach, L. M. Dellefave-Castillo, D. Wolfgeher, E. M. McNally, Population-based variation in cardiomyopathy genes. Circ. Cardiovasc. Genet. 5, 391-399 (2012).
-
(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
-
14
-
-
84873884826
-
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation
-
S. Pan, C. A. Caleshu, K. E. Dunn, M. J. Foti, M. K. Moran, O. Soyinka, E. A. Ashley, Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. Circ. Cardiovasc. Genet. 5, 602-610 (2012).
-
(2012)
Circ. Cardiovasc. Genet.
, vol.5
, pp. 602-610
-
-
Pan, S.1
Caleshu, C.A.2
Dunn, K.E.3
Foti, M.J.4
Moran, M.K.5
Soyinka, O.6
Ashley, E.A.7
-
15
-
-
70349670977
-
Muscle giants: Molecular scaffolds in sarcomerogenesis
-
A. Kontrogianni-Konstantopoulos, M. A. Ackermann, A. L. Bowman, S. V. Yap, R. J. Bloch, Muscle giants: Molecular scaffolds in sarcomerogenesis. Physiol. Rev. 89, 1217-1267 (2009).
-
(2009)
Physiol. Rev.
, vol.89
, pp. 1217-1267
-
-
Kontrogianni-Konstantopoulos, A.1
Ackermann, M.A.2
Bowman, A.L.3
Yap, S.V.4
Bloch, R.J.5
-
16
-
-
0032538660
-
2 terminus of titin spans the Z-disc: Its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity
-
2 terminus of titin spans the Z-disc: Its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. J. Cell Biol. 143, 1013-1027 (1998).
-
(1998)
J. Cell Biol.
, vol.143
, pp. 1013-1027
-
-
Gregorio, C.C.1
Trombitás, K.2
Centner, T.3
Kolmerer, B.4
Stier, G.5
Kunke, K.6
Suzuki, K.7
Obermayr, F.8
Herrmann, B.9
Granzier, H.10
Sorimachi, H.11
Labeit, S.12
-
17
-
-
0031795571
-
A spring tale: New facts on titin elasticity
-
W. A. Linke, H. Granzier, A spring tale: New facts on titin elasticity. Biophys. J. 75, 2613-2614 (1998).
-
(1998)
Biophys. J.
, vol.75
, pp. 2613-2614
-
-
Linke, W.A.1
Granzier, H.2
-
18
-
-
84863682007
-
Mutations in the sensitive giant titin result in a broken heart
-
L. A. Leinwand, J. C. Tardiff, C. C. Gregorio, Mutations in the sensitive giant titin result in a broken heart. Circ. Res. 111, 158-161 (2012).
-
(2012)
Circ. Res.
, vol.111
, pp. 158-161
-
-
Leinwand, L.A.1
Tardiff, J.C.2
Gregorio, C.C.3
-
19
-
-
51649101588
-
Mechanoenzymatics of titin kinase
-
E. M. Puchner, A. Alexandrovich, A. L. Kho, U. Hensen, L. V. Schäfer, B. Brandmeier, F. Grater, H. Grubmüller, H. E. Gaub, M. Gautel, Mechanoenzymatics of titin kinase. Proc. Natl. Acad. Sci. U. S. A. 105, 13385-13390 (2008).
-
(2008)
Proc. Natl. Acad. Sci. U. S. A.
, vol.105
, pp. 13385-13390
-
-
Puchner, E.M.1
Alexandrovich, A.2
Kho, A.L.3
Hensen, U.4
Schäfer, L.V.5
Brandmeier, B.6
Grater, F.7
Grubmüller, H.8
Gaub, H.E.9
Gautel, M.10
-
20
-
-
84874476580
-
Titin is a major human disease gene
-
M. M. LeWinter, H. L. Granzier, Titin is a major human disease gene. Circulation 127, 938-944 (2013).
-
(2013)
Circulation
, vol.127
, pp. 938-944
-
-
LeWinter, M.M.1
Granzier, H.L.2
-
21
-
-
0031711834
-
Complete unfolding of the titin molecule under external force
-
M. S. Kellermayer, S. B. Smith, C. Bustamante, H. L. Granzier, Complete unfolding of the titin molecule under external force. J. Struct. Biol. 122, 197-205 (1998).
-
(1998)
J. Struct. Biol.
, vol.122
, pp. 197-205
-
-
Kellermayer, M.S.1
Smith, S.B.2
Bustamante, C.3
Granzier, H.L.4
-
22
-
-
55749092742
-
Genetics of the Framingham heart study population
-
D. R. Govindaraju, L. A. Cupples, W. B. Kannel, C. J. O'Donnell, L. D. Atwood, R. B. D'Agostino Sr., C. S. Fox, M. Larson, D. Levy, J. Murabito, R. S. Vasan, G. L. Splansky, P. A. Wolf, E. J. Benjamin, Genetics of the Framingham Heart Study population. Adv. Genet. 62, 33-65 (2008).
-
(2008)
Adv. Genet.
, vol.62
, pp. 33-65
-
-
Govindaraju, D.R.1
Cupples, L.A.2
Kannel, W.B.3
O'Donnell, C.J.4
Atwood, L.D.5
D'Agostino, R.B.6
Fox, C.S.7
Larson, M.8
Levy, D.9
Murabito, J.10
Vasan, R.S.11
Splansky, G.L.12
Wolf, P.A.13
Benjamin, E.J.14
-
23
-
-
0242624499
-
A community-driven model of research participation: The Jackson Heart Study Participant Recruitment and Retention Study
-
S. B. Wyatt, N. Diekelmann, F. Henderson, M. E. Andrew, G. Billingsley, S. H. Felder, S. Fuqua, P. B. Jackson, A community-driven model of research participation: The Jackson Heart Study Participant Recruitment and Retention Study. Ethn. Dis. 13, 438-455 (2003).
-
(2003)
Ethn. Dis.
, vol.13
, pp. 438-455
-
-
Wyatt, S.B.1
Diekelmann, N.2
Henderson, F.3
Andrew, M.E.4
Billingsley, G.5
Felder, S.H.6
Fuqua, S.7
Jackson, P.B.8
-
24
-
-
6844255857
-
Design of the Women's Health Initiative clinical trial and observational study
-
The Women's Health Initiative Study Group, Design of the Women's Health Initiative clinical trial and observational study. Control. Clin. Trials 19, 61-109 (1998).
-
(1998)
Control. Clin. Trials
, vol.19
, pp. 61-109
-
-
-
25
-
-
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, S. B. Montgomery, C. A. Albers, Z. D. Zhang, D. F. Conrad, G. Lunter, H. Zheng, Q. Ayub, M. A. DePristo, E. Banks, M. Hu, R. E. Handsaker, J. A. Rosenfeld, M. Fromer, M. Jin, X. J. Mu, E. Khurana, K. Ye, M. Kay, G. I. Saunders, M. M. Suner, T. Hunt, I. H. Barnes, C. Amid, D. R. Carvalho-Silva, A. H. Bignell, C. Snow, B. Yngvadottir, S. Bumpstead, D. N. Cooper, Y. Xue, I. G. Romero; 1000 Genomes Project Consortium, J. Wang, Y. Li, R. A. Gibbs, S. A. McCarroll, E. T. Dermitzakis, J. K. Pritchard, J. C. Barrett, J. Harrow, M. E. Hurles, M. B. Gerstein, C. Tyler-Smith, A systematic survey of loss-of-function variants in human protein-coding genes. Science 335, 823-828 (2012).
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
1000 Genomes Project Consortium1
MacArthur, D.G.2
Balasubramanian, S.3
Frankish, A.4
Huang, N.5
Morris, J.6
Walter, K.7
Jostins, L.8
Habegger, L.9
Pickrell, J.K.10
Montgomery, S.B.11
Albers, C.A.12
Zhang, Z.D.13
Conrad, D.F.14
Lunter, G.15
Zheng, H.16
Ayub, Q.17
DePristo, M.A.18
Banks, E.19
Hu, M.20
Handsaker, R.E.21
Rosenfeld, J.A.22
Fromer, M.23
Jin, M.24
Mu, X.J.25
Khurana, E.26
Ye, K.27
Kay, M.28
Saunders, G.I.29
Suner, M.M.30
Hunt, T.31
Barnes, I.H.32
Amid, C.33
Carvalho-Silva, D.R.34
Bignell, A.H.35
Snow, C.36
Yngvadottir, B.37
Bumpstead, S.38
Cooper, D.N.39
Xue, Y.40
Romero, I.G.41
Wang, J.42
Li, Y.43
Gibbs, R.A.44
McCarroll, S.A.45
Dermitzakis, E.T.46
Pritchard, J.K.47
Barrett, J.C.48
Harrow, J.49
Hurles, M.E.50
Gerstein, M.B.51
Tyler-Smith, C.52
more..
-
26
-
-
0035941407
-
The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system
-
M. L. Bang, T. Centner, F. Fornoff, A. J. Geach, M. Gotthardt, M. McNabb, C. C. Witt, D. Labeit, C. C. Gregorio, H. Granzier, S. Labeit, The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. Circ. Res. 89, 1065-1072 (2001).
-
(2001)
Circ. Res.
, vol.89
, pp. 1065-1072
-
-
Bang, M.L.1
Centner, T.2
Fornoff, F.3
Geach, A.J.4
Gotthardt, M.5
McNabb, M.6
Witt, C.C.7
Labeit, D.8
Gregorio, C.C.9
Granzier, H.10
Labeit, S.11
-
27
-
-
84876933612
-
Acquisition of normal tissues for the GTEx program
-
H. M. Moore, Acquisition of normal tissues for the GTEx program. Biopreserv. Biobank 11, 75-76 (2013).
-
(2013)
Biopreserv. Biobank
, vol.11
, pp. 75-76
-
-
Moore, H.M.1
-
28
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium, G. R. Abecasis, D. Altshuler, A. Auton, L. D. Brooks, R. M. Durbin, R. A. Gibbs, M. E. Hurles, G. A. McVean, A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
1000 Genomes Project Consortium1
Abecasis, G.R.2
Altshuler, D.3
Auton, A.4
Brooks, L.D.5
Durbin, R.M.6
Gibbs, R.A.7
Hurles, M.E.8
McVean, G.A.9
-
29
-
-
84975804424
-
1000 Genomes Project Consortium, Mapping copy number variation by population-scale genome sequencing
-
R. E. Mills, K. Walter, C. Stewart, R. E. Handsaker, K. Chen, C. Alkan, A. Abyzov, S. C. Yoon, K. Ye, R. K. Cheetham, A. Chinwalla, D. F. Conrad, Y. Fu, F. Grubert, I. Hajirasouliha, F. Hormozdiari, L. M. Iakoucheva, Z. Iqbal, S. Kang, J. M. Kidd, M. K. Konkel, J. Korn, E. Khurana, D. Kural, H. Y. Lam, J. Leng, R. Li, Y. Li, C. Y. Lin, R. Luo, X. J. Mu, J. Nemesh, H. E. Peckham, T. Rausch, A. Scally, X. Shi, M. P. Stromberg, A. M. Stutz, A. E. Urban, J. A. Walker, J. Wu, Y. Zhang, Z. D. Zhang, M. A. Batzer, L. Ding, G. T. Marth, G. McVean, J. Sebat, M. Snyder, J. Wang, K. Ye, E. E. Eichler, M. B. Gerstein, M. E. Hurles, C. Lee, S. A. McCarroll, J. O. Korbel; 1000 Genomes Project Consortium, Mapping copy number variation by population-scale genome sequencing. Nature 470, 59-65 (2011).
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
Alkan, C.6
Abyzov, A.7
Yoon, S.C.8
Ye, K.9
Cheetham, R.K.10
Chinwalla, A.11
Conrad, D.F.12
Fu, Y.13
Grubert, F.14
Hajirasouliha, I.15
Hormozdiari, F.16
Iakoucheva, L.M.17
Iqbal, Z.18
Kang, S.19
Kidd, J.M.20
Konkel, M.K.21
Korn, J.22
Khurana, E.23
Kural, D.24
Lam, H.Y.25
Leng, J.26
Li, R.27
Li, Y.28
Lin, C.Y.29
Luo, R.30
Mu, X.J.31
Nemesh, J.32
Peckham, H.E.33
Rausch, T.34
Scally, A.35
Shi, X.36
Stromberg, M.P.37
Stutz, A.M.38
Urban, A.E.39
Walker, J.A.40
Wu, J.41
Zhang, Y.42
Zhang, Z.D.43
Batzer, M.A.44
Ding, L.45
Marth, G.T.46
McVean, G.47
Sebat, J.48
Snyder, M.49
Wang, J.50
Ye, K.51
Eichler, E.E.52
Gerstein, M.B.53
Hurles, M.E.54
Lee, C.55
McCarroll, S.A.56
Korbel, J.O.57
more..
-
30
-
-
80052186988
-
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy
-
E. Villard, C. Perret, F. Gary, C. Proust, G. Dilanian, C. Hengstenberg, V. Ruppert, E. Arbustini, T. Wichter, M. Germain, O. Dubourg, L. Tavazzi, M. C. Aumont, P. DeGroote, L. Fauchier, J. N. Trochu, P. Gibelin, J. F. Aupetit, K. Stark, J. Erdmann, R. Hetzer, A. M. Roberts, P. J. Barton, V. Regitz-Zagrosek; Cardiogenics Consortium, U. Aslam, L. Duboscq-Bidot, M. Meyborg, B. Maisch, H. Madeira, A. Waldenström, E. Galve, J. G. Cleland, R. Dorent, G. Roizes, T. Zeller, S. Blankenberg, A. H. Goodall, S. Cook, D. A. Tregouet, L. Tiret, R. Isnard, M. Komajda, P. Charron, F. Cambien, A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur. Heart J. 32, 1065-1076 (2011).
-
(2011)
Eur. Heart J.
, vol.32
, pp. 1065-1076
-
-
Cardiogenics Consortium1
Villard, E.2
Perret, C.3
Gary, F.4
Proust, C.5
Dilanian, G.6
Hengstenberg, C.7
Ruppert, V.8
Arbustini, E.9
Wichter, T.10
Germain, M.11
Dubourg, O.12
Tavazzi, L.13
Aumont, M.C.14
DeGroote, P.15
Fauchier, L.16
Trochu, J.N.17
Gibelin, P.18
Aupetit, J.F.19
Stark, K.20
Erdmann, J.21
Hetzer, R.22
Roberts, A.M.23
Barton, P.J.24
Regitz-Zagrosek, V.25
Aslam, U.26
Duboscq-Bidot, L.27
Meyborg, M.28
Maisch, B.29
Madeira, H.30
Waldenström, A.31
Galve, E.32
Cleland, J.G.33
Dorent, R.34
Roizes, G.35
Zeller, T.36
Blankenberg, S.37
Goodall, A.H.38
Cook, S.39
Tregouet, D.A.40
Tiret, L.41
Isnard, R.42
Komajda, M.43
Charron, P.44
Cambien, F.45
more..
-
31
-
-
78449233578
-
Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy
-
K. Stark, U. B. Esslinger, W. Reinhard, G. Petrov, T. Winkler, M. Komajda, R. Isnard, P. Charron, E. Villard, F. Cambien, L. Tiret, M. C. Aumont, O. Dubourg, J. N. Trochu, L. Fauchier, P. Degroote, A. Richter, B. Maisch, T. Wichter, C. Zollbrecht, M. Grassl, H. Schunkert, P. Linsel-Nitschke, J. Erdmann, J. Baumert, T. Illig, N. Klopp, H. E. Wichmann, C. Meisinger, W. Koenig, P. Lichtner, T. Meitinger, A. Schillert, I. R. König, R. Hetzer, I. M. Heid, V. Regitz-Zagrosek, C. Hengstenberg, Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. PLOS Genet. 6, e1001167 (2010).
-
(2010)
PLOS Genet.
, vol.6
, pp. e1001167
-
-
Stark, K.1
Esslinger, U.B.2
Reinhard, W.3
Petrov, G.4
Winkler, T.5
Komajda, M.6
Isnard, R.7
Charron, P.8
Villard, E.9
Cambien, F.10
Tiret, L.11
Aumont, M.C.12
Dubourg, O.13
Trochu, J.N.14
Fauchier, L.15
Degroote, P.16
Richter, A.17
Maisch, B.18
Wichter, T.19
Zollbrecht, C.20
Grassl, M.21
Schunkert, H.22
Linsel-Nitschke, P.23
Erdmann, J.24
Baumert, J.25
Illig, T.26
Klopp, N.27
Wichmann, H.E.28
Meisinger, C.29
Koenig, W.30
Lichtner, P.31
Meitinger, T.32
Schillert, A.33
König, I.R.34
Hetzer, R.35
Heid, I.M.36
Regitz-Zagrosek, V.37
Hengstenberg, C.38
more..
-
33
-
-
84864442229
-
Diagnostic and prognostic value of cardiovascular magnetic resonance in non-ischaemic cardiomyopathies
-
C. Parsai, R. O'Hanlon, S. K. Prasad, R. H. Mohiaddin, Diagnostic and prognostic value of cardiovascular magnetic resonance in non-ischaemic cardiomyopathies. J. Cardiovasc. Magn. Reson. 14, 54 (2012).
-
(2012)
J. Cardiovasc. Magn. Reson.
, vol.14
, pp. 54
-
-
Parsai, C.1
O'Hanlon, R.2
Prasad, S.K.3
Mohiaddin, R.H.4
-
34
-
-
84874719002
-
Association of fibrosis with mortality and sudden cardiac death in patients with nonischemic dilated cardiomyopathy
-
A. Gulati, A. Jabbour, T. F. Ismail, K. Guha, J. Khwaja, S. Raza, K. Morarji, T. D. Brown, N. A. Ismail, M. R. Dweck, E. Di Pietro, M. Roughton, R. Wage, Y. Daryani, R. O'Hanlon, M. N. Sheppard, F. Alpendurada, A. R. Lyon, S. A. Cook, M. R. Cowie, R. G. Assomull, D. J. Pennell, S. K. Prasad, Association of fibrosis with mortality and sudden cardiac death in patients with nonischemic dilated cardiomyopathy. JAMA 309, 896-908 (2013).
-
(2013)
JAMA
, vol.309
, pp. 896-908
-
-
Gulati, A.1
Jabbour, A.2
Ismail, T.F.3
Guha, K.4
Khwaja, J.5
Raza, S.6
Morarji, K.7
Brown, T.D.8
Ismail, N.A.9
Dweck, M.R.10
Di Pietro, E.11
Roughton, M.12
Wage, R.13
Daryani, Y.14
O'Hanlon, R.15
Sheppard, M.N.16
Alpendurada, F.17
Lyon, A.R.18
Cook, S.A.19
Cowie, M.R.20
Assomull, R.G.21
Pennell, D.J.22
Prasad, S.K.23
more..
-
35
-
-
33750946166
-
Cardiovascular magnetic resonance, fibrosis, and prognosis in dilated cardiomyopathy
-
R. G. Assomull, S. K. Prasad, J. Lyne, G. Smith, E. D. Burman, M. Khan, M. N. Sheppard, P. A. Poole-Wilson, D. J. Pennell, Cardiovascular magnetic resonance, fibrosis, and prognosis in dilated cardiomyopathy. J. Am. Coll. Cardiol. 48, 1977-1985 (2006).
-
(2006)
J. Am. Coll. Cardiol.
, vol.48
, pp. 1977-1985
-
-
Assomull, R.G.1
Prasad, S.K.2
Lyne, J.3
Smith, G.4
Burman, E.D.5
Khan, M.6
Sheppard, M.N.7
Poole-Wilson, P.A.8
Pennell, D.J.9
-
36
-
-
84880535720
-
American College of Medical Genetics and Genomics, ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
R. C. Green, J. S. Berg, W. W. Grody, S. S. Kalia, B. R. Korf, C. L. Martin, A. L. McGuire, R. L. Nussbaum, J. M. O'Daniel, K. E. Ormond, H. L. Rehm, M. S. Watson, M. S. Williams, L. G. Biesecker; American College of Medical Genetics and Genomics, ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15, 565-574 (2013).
-
(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
Rehm, H.L.11
Watson, M.S.12
Williams, M.S.13
Biesecker, L.G.14
-
37
-
-
60949103027
-
Heart Failure Society of America, Genetic evaluation of cardiomyopathy-A Heart Failure Society of America practice guideline
-
R. E. Hershberger, J. Lindenfeld, L. Mestroni, C. E. Seidman, M. R. Taylor, J. A. Towbin; Heart Failure Society of America, Genetic evaluation of cardiomyopathy-A Heart Failure Society of America practice guideline. J. Card. Fail. 15, 83-97 (2009).
-
(2009)
J. Card. Fail.
, vol.15
, pp. 83-97
-
-
Hershberger, R.E.1
Lindenfeld, J.2
Mestroni, L.3
Seidman, C.E.4
Taylor, M.R.5
Towbin, J.A.6
-
38
-
-
33750143766
-
Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy
-
J. D. Kushner, D. Nauman, D. Burgess, S. Ludwigsen, S. B. Parks, G. Pantely, E. Burkett, R. E. Hershberger, Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. J. Card. Fail. 12, 422-429 (2006).
-
(2006)
J. Card. Fail.
, vol.12
, pp. 422-429
-
-
Kushner, J.D.1
Nauman, D.2
Burgess, D.3
Ludwigsen, S.4
Parks, S.B.5
Pantely, G.6
Burkett, E.7
Hershberger, R.E.8
-
39
-
-
0029864693
-
Report of the 1995 world health organization/international society and federation of cardiology task force on the definition and classification of cardiomyopathies
-
P. Richardson, W. McKenna, M. Bristow, B. Maisch, B. Mautner, J. O'Connell, E. Olsen, G. Thiene, J. Goodwin, I. Gyarfas, I. Martin, P. Nordet, Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation 93, 841-842 (1996).
-
(1996)
Circulation
, vol.93
, pp. 841-842
-
-
Richardson, P.1
McKenna, W.2
Bristow, M.3
Maisch, B.4
Mautner, B.5
O'Connell, J.6
Olsen, E.7
Thiene, G.8
Goodwin, J.9
Gyarfas, I.10
Martin, I.11
Nordet, P.12
-
40
-
-
84858255789
-
Genetics: Broken giant linked to heart failure
-
E. M. McNally, Genetics: Broken giant linked to heart failure. Nature 483, 281-282 (2012).
-
(2012)
Nature
, vol.483
, pp. 281-282
-
-
McNally, E.M.1
-
41
-
-
84884587480
-
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
-
R. Roncarati, C. Viviani Anselmi, P. Krawitz, G. Lattanzi, Y. von Kodolitsch, A. Perrot, E. di Pasquale, L. Papa, P. Portararo, M. Columbaro, A. Forni, G. Faggian, G. Condorelli, P. N. Robinson, Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur. J. Hum. Genet. 21, 1105-1111 (2013).
-
(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
Forni, A.11
Faggian, G.12
Condorelli, G.13
Robinson, P.N.14
-
42
-
-
84864332063
-
Deep phenotyping for precision medicine
-
P. N. Robinson, Deep phenotyping for precision medicine. Hum. Mutat. 33, 777-780 (2012).
-
(2012)
Hum. Mutat.
, vol.33
, pp. 777-780
-
-
Robinson, P.N.1
-
43
-
-
84856437576
-
Pediatric Cardiomyopathy Registry Investigators, Incidence of and risk factors for sudden cardiac death in children with dilated cardiomyopathy: A report from the Pediatric Cardiomyopathy Registry
-
E. Pahl, L A. Sleeper, C E. Canter, D. T. Hsu, M. Lu, S. A. Webber, S. D. Colan, P. F. Kantor, M. D. Everitt, J. A. Towbin, J. L. Jefferies, B. D. Kaufman, J. D. Wilkinson, S. E. Lipshultz; Pediatric Cardiomyopathy Registry Investigators, Incidence of and risk factors for sudden cardiac death in children with dilated cardiomyopathy: A report from the Pediatric Cardiomyopathy Registry. J. Am. Coll. Cardiol. 59, 607-615 (2012).
-
(2012)
J. Am. Coll. Cardiol.
, vol.59
, pp. 607-615
-
-
Pahl, E.1
Sleeper, L.A.2
Canter, C.E.3
Hsu, D.T.4
Lu, M.5
Webber, S.A.6
Colan, S.D.7
Kantor, P.F.8
Everitt, M.D.9
Towbin, J.A.10
Jefferies, J.L.11
Kaufman, B.D.12
Wilkinson, J.D.13
Lipshultz, S.E.14
-
44
-
-
33644878739
-
Candesartan in Heart Failure Reduction in Mortality (CHARM) Investigators, Influence of ejection fraction on cardiovascular outcomes in a broad spectrum of heart failure patients
-
S. D. Solomon, N. Anavekar, H. Skali, J. J. McMurray, K. Swedberg, S. Yusuf, C. B. Granger, E. L. Michelson, D. Wang, S. Pocock, M. A. Pfeffer; Candesartan in Heart Failure Reduction in Mortality (CHARM) Investigators, Influence of ejection fraction on cardiovascular outcomes in a broad spectrum of heart failure patients. Circulation 112, 3738-3744 (2005).
-
(2005)
Circulation
, vol.112
, pp. 3738-3744
-
-
Solomon, S.D.1
Anavekar, N.2
Skali, H.3
McMurray, J.J.4
Swedberg, K.5
Yusuf, S.6
Granger, C.B.7
Michelson, E.L.8
Wang, D.9
Pocock, S.10
Pfeffer, M.A.11
-
45
-
-
82255192327
-
Cardiac remodeling at the population level-Risk factors, screening, and outcomes
-
O. Gjesdal, D. A. Bluemke, J. A. Lima, Cardiac remodeling at the population level-Risk factors, screening, and outcomes. Nat. Rev. Cardiology 8, 673-685 (2011).
-
(2011)
Nat. Rev. Cardiology
, vol.8
, pp. 673-685
-
-
Gjesdal, O.1
Bluemke, D.A.2
Lima, J.A.3
-
46
-
-
52949111684
-
Long-term outcome and risk stratification in dilated cardiolaminopathies
-
M. Pasotti, C. Klersy, A. Pilotto, N. Marziliano, C. Rapezzi, A. Serio, S. Mannarino, F. Gambarin, V. Favalli, M. Grasso, M. Agozzino, C. Campana, A. Gavazzi, O. Febo, M. Marini, M. Landolina, A. Mortara, G. Piccolo, M. Vigano, L. Tavazzi, E. Arbustini, Long-term outcome and risk stratification in dilated cardiolaminopathies. J. Am. Coll. Cardiol. 52, 1250-1260 (2008).
-
(2008)
J. Am. Coll. Cardiol.
, vol.52
, pp. 1250-1260
-
-
Pasotti, M.1
Klersy, C.2
Pilotto, A.3
Marziliano, N.4
Rapezzi, C.5
Serio, A.6
Mannarino, S.7
Gambarin, F.8
Favalli, V.9
Grasso, M.10
Agozzino, M.11
Campana, C.12
Gavazzi, A.13
Febo, O.14
Marini, M.15
Landolina, M.16
Mortara, A.17
Piccolo, G.18
Vigano, M.19
Tavazzi, L.20
Arbustini, E.21
more..
-
47
-
-
63749099247
-
2q31.2q32.3 deletion syndrome: Report of an adult patient
-
P. Prontera, L. Bernardini, G. Stangoni, A. Capalbo, D. Rogaia, C. Ardisia, A. Novelli, B. Dallapiccola, E. Donti, 2q31.2q32.3 deletion syndrome: Report of an adult patient Am. J. Med. Genet. A 149A, 706-712 (2009).
-
(2009)
Am. J. Med. Genet. A
, vol.149 A
, pp. 706-712
-
-
Prontera, P.1
Bernardini, L.2
Stangoni, G.3
Capalbo, A.4
Rogaia, D.5
Ardisia, C.6
Novelli, A.7
Dallapiccola, B.8
Donti, E.9
-
48
-
-
84886409449
-
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
-
O. Ceyhan-Birsoy, P. B. Agrawal, C. Hidalgo, K. Schmitz-Abe, E. T. DeChene, L. C. Swanson, R. Soemedi, N. Vasli, S. T. Iannaccone, P. B. Shieh, N. Shur, J. M. Dennison, M. W. Lawlor, J. Laporte, K. Markianos, W. G. Fairbrother, H. Granzier, A. H. Beggs, Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 81, 1205-1214 (2013).
-
(2013)
Neurology
, vol.81
, pp. 1205-1214
-
-
Ceyhan-Birsoy, O.1
Agrawal, P.B.2
Hidalgo, C.3
Schmitz-Abe, K.4
DeChene, E.T.5
Swanson, L.C.6
Soemedi, R.7
Vasli, N.8
Iannaccone, S.T.9
Shieh, P.B.10
Shur, N.11
Dennison, J.M.12
Lawlor, M.W.13
Laporte, J.14
Markianos, K.15
Fairbrother, W.G.16
Granzier, H.17
Beggs, A.H.18
-
49
-
-
0032189352
-
A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy
-
Q. Yang, A. Sanbe, H. Osinska, T. E. Hewett, R. Klevitsky, J. Robbins, A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy. J. Clin. Invest. 102, 1292-1300 (1998).
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 1292-1300
-
-
Yang, Q.1
Sanbe, A.2
Osinska, H.3
Hewett, T.E.4
Klevitsky, R.5
Robbins, J.6
-
50
-
-
14844338880
-
Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants
-
A. Sarikas, L. Carrier, C. Schenke, D. Doll, J. Flavigny, K. S. Lindenberg, T. Eschenhagen, O. Zolk, Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants. Cardiovasc. Res. 66, 33-44 (2005).
-
(2005)
Cardiovasc. Res.
, vol.66
, pp. 33-44
-
-
Sarikas, A.1
Carrier, L.2
Schenke, C.3
Doll, D.4
Flavigny, J.5
Lindenberg, K.S.6
Eschenhagen, T.7
Zolk, O.8
-
51
-
-
33745889016
-
Normalized left ventricular systolic and diastolic function by steady state free precession cardiovascular magnetic resonance
-
A. M. Maceira, S. K. Prasad, M. Khan, D. J. Pennell, Normalized left ventricular systolic and diastolic function by steady state free precession cardiovascular magnetic resonance. J. Cardiovasc. Magn. Reson. 8, 417-426 (2006).
-
(2006)
J. Cardiovasc. Magn. Reson.
, vol.8
, pp. 417-426
-
-
Maceira, A.M.1
Prasad, S.K.2
Khan, M.3
Pennell, D.J.4
-
52
-
-
77956295988
-
The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, M. A. DePristo, The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
-
(2010)
Genome Res.
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
DePristo, M.A.11
-
53
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
H. Li, R. Durbin, Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
54
-
-
84863556835
-
NHLBI Exome Sequencing Project, Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
J. A. Tennessen, A. W. Bigham, T. D. O'Connor, W. Fu, E. E. Kenny, S. Gravel, S. McGee, R. Do, X. Liu, G. Jun, H. M. Kang, D. Jordan, S. M. Leal, S. Gabriel, M. J. Rieder, G. Abecasis, D. Altshuler, D. A. Nickerson, E. Boerwinkle, S. Sunyaev, C. D. Bustamante, M. J. Bamshad, J. M. Akey; NHLBI Exome Sequencing Project, Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337, 64-69 (2012).
-
(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
Kang, H.M.11
Jordan, D.12
Leal, S.M.13
Gabriel, S.14
Rieder, M.J.15
Abecasis, G.16
Altshuler, D.17
Nickerson, D.A.18
Boerwinkle, E.19
Sunyaev, S.20
Bustamante, C.D.21
Bamshad, M.J.22
Akey, J.M.23
more..
-
55
-
-
65449136284
-
TopHat: Discovering splice junctions with RNA-Seq
-
C. Trapnell, L. Pachter, S. L. Salzberg, TopHat: Discovering splice junctions with RNA-Seq. Bioinformatics 25, 1105-1111 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 1105-1111
-
-
Trapnell, C.1
Pachter, L.2
Salzberg, S.L.3
-
56
-
-
84891768365
-
Ensembl 2014
-
P. Flicek, M. R. Amode, D. Barrell, K. Beal, K. Billis, S. Brent, D. Carvalho-Silva, P. Clapham, G. Coates, S. Fitzgerald, L. Gil, C. G. Girón, L. Gordon, T. Hourlier, S. Hunt, N. Johnson, T. Juettemann, A. K. Kähäri, S. Keenan, E. Kulesha, F. J. Martin, T. Maurel, W. M. McLaren, D. N. Murphy, R. Nag, B. Overduin, M. Pignatelli, B. Pritchard, E. Pritchard, H. S. Riat, M. Ruffier, D. Sheppard, K. Taylor, A. Thormann, S. J. Trevanion, A. Vullo, S. P. Wilder, M. Wilson, A. Zadissa, B. L. Aken, E. Birney, F. Cunningham, J. Harrow, J. Herrero, T. J. Hubbard, R. Kinsella, M. Muffato, A. Parker, G. Spudich, A. Yates, D. R. Zerbino, S. M. Searle, Ensembl 2014. Nucleic Acids Res. 42, D749-D755 (2014).
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D749-D755
-
-
Flicek, P.1
Amode, M.R.2
Barrell, D.3
Beal, K.4
Billis, K.5
Brent, S.6
Carvalho-Silva, D.7
Clapham, P.8
Coates, G.9
Fitzgerald, S.10
Gil, L.11
Girón, C.G.12
Gordon, L.13
Hourlier, T.14
Hunt, S.15
Johnson, N.16
Juettemann, T.17
Kähäri, A.K.18
Keenan, S.19
Kulesha, E.20
Martin, F.J.21
Maurel, T.22
McLaren, W.M.23
Murphy, D.N.24
Nag, R.25
Overduin, B.26
Pignatelli, M.27
Pritchard, B.28
Pritchard, E.29
Riat, H.S.30
Ruffier, M.31
Sheppard, D.32
Taylor, K.33
Thormann, A.34
Trevanion, S.J.35
Vullo, A.36
Wilder, S.P.37
Wilson, M.38
Zadissa, A.39
Aken, B.L.40
Birney, E.41
Cunningham, F.42
Harrow, J.43
Herrero, J.44
Hubbard, T.J.45
Kinsella, R.46
Muffato, M.47
Parker, A.48
Spudich, G.49
Yates, A.50
Zerbino, D.R.51
Searle, S.M.52
more..
-
57
-
-
68549104404
-
1000 genome project data processing subgroup, the sequence alignment/map format and SAMtools
-
H. Li, B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, R. Durbin; 1000 Genome Project Data Processing Subgroup, The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
58
-
-
56549101959
-
Alternative isoform regulation in human tissue transcriptomes
-
E. T. Wang, R. Sandberg, S. Luo, I. Khrebtukova, L. Zhang, C. Mayr, S. F. Kingsmore, G. P. Schroth, C. B. Burge, Alternative isoform regulation in human tissue transcriptomes. Nature 456, 470-476 (2008).
-
(2008)
Nature
, vol.456
, pp. 470-476
-
-
Wang, E.T.1
Sandberg, R.2
Luo, S.3
Khrebtukova, I.4
Zhang, L.5
Mayr, C.6
Kingsmore, S.F.7
Schroth, G.P.8
Burge, C.B.9
-
59
-
-
0038219368
-
Vertical agarose gel electrophoresis and electroblotting of high-molecular-weight proteins
-
C. M. Warren, P. R. Krzesinski, M. L. Greaser, Vertical agarose gel electrophoresis and electroblotting of high-molecular-weight proteins. Electrophoresis 24, 1695-1702 (2003).
-
(2003)
Electrophoresis
, vol.24
, pp. 1695-1702
-
-
Warren, C.M.1
Krzesinski, P.R.2
Greaser, M.L.3
-
60
-
-
84891792303
-
Locus Reference Genomic: Reference sequences for the reporting of clinically relevant sequence variants
-
J. A. MacArthur, J. Morales, R. E. Tully, A. Astashyn, L. Gil, E. A. Bruford, P. Larsson, P. Flicek, R. Dalgleish, D. R. Maglott, F. Cunningham, Locus Reference Genomic: Reference sequences for the reporting of clinically relevant sequence variants. Nucleic Acids Res. 42, D873-D878 (2014).
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D873-D878
-
-
MacArthur, J.A.1
Morales, J.2
Tully, R.E.3
Astashyn, A.4
Gil, L.5
Bruford, E.A.6
Larsson, P.7
Flicek, P.8
Dalgleish, R.9
Maglott, D.R.10
Cunningham, F.11
-
61
-
-
77951967863
-
A database and API for variation, dense genotyping and resequencing data
-
D. Rios, W. M. McLaren, Y. Chen, E. Birney, A. Stabenau, P. Flicek, F. Cunningham, A database and API for variation, dense genotyping and resequencing data. BMC Bioinformatics 11, 238 (2010).
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 238
-
-
Rios, D.1
McLaren, W.M.2
Chen, Y.3
Birney, E.4
Stabenau, A.5
Flicek, P.6
Cunningham, F.7
-
62
-
-
77955405475
-
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
-
W. McLaren, B. Pritchard, D. Rios, Y. Chen, P. Flicek, F. Cunningham, Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics 26, 2069-2070 (2010).
-
(2010)
Bioinformatics
, vol.26
, pp. 2069-2070
-
-
McLaren, W.1
Pritchard, B.2
Rios, D.3
Chen, Y.4
Flicek, P.5
Cunningham, F.6
-
63
-
-
84863873006
-
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
-
C. Houdayer, V. Caux-Moncoutier, S. Krieger, M. Barrois, F. Bonnet, V. Bourdon, M. Bronner, M. Buisson, F. Coulet, P. Gaildrat, C. Lefol, M. Léone, S. Mazoyer, D. Muller, A. Remenieras, F. Révillion, E. Rouleau, J. Sokolowska, J. P. Vert, R. Lidereau, F. Soubrier, H. Sobol, N. Sevenet, B. Bressac-de Paillerets, A. Hardouin, M. Tosi, O. M. Sinilnikova, D. Stoppa-Lyonnet, Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum. Mutat. 33, 1228-1238 (2012).
-
(2012)
Hum. Mutat.
, vol.33
, pp. 1228-1238
-
-
Houdayer, C.1
Caux-Moncoutier, V.2
Krieger, S.3
Barrois, M.4
Bonnet, F.5
Bourdon, V.6
Bronner, M.7
Buisson, M.8
Coulet, F.9
Gaildrat, P.10
Lefol, C.11
Léone, M.12
Mazoyer, S.13
Muller, D.14
Remenieras, A.15
Révillion, F.16
Rouleau, E.17
Sokolowska, J.18
Vert, J.P.19
Lidereau, R.20
Soubrier, F.21
Sobol, H.22
Sevenet, N.23
Bressac-De Paillerets, B.24
Hardouin, A.25
Tosi, M.26
Sinilnikova, O.M.27
Stoppa-Lyonnet, D.28
more..
-
64
-
-
2442441507
-
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
-
G. Yeo, C. B. Burge, Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol. 11, 377-394 (2004).
-
(2004)
J. Comput. Biol.
, vol.11
, pp. 377-394
-
-
Yeo, G.1
Burge, C.B.2
-
65
-
-
0036642629
-
Comparison of interstudy reproducibility of cardiovascular magnetic resonance with two-dimensional echocardiography in normal subjects and in patients with heart failure or left ventricular hypertrophy
-
F. Grothues, G. C. Smith, J. C. Moon, N. G. Bellenger, P. Collins, H. U. Klein, D. J. Pennell, Comparison of interstudy reproducibility of cardiovascular magnetic resonance with two-dimensional echocardiography in normal subjects and in patients with heart failure or left ventricular hypertrophy. Am. J. Cardiol. 90, 29-34 (2002).
-
(2002)
Am. J. Cardiol.
, vol.90
, pp. 29-34
-
-
Grothues, F.1
Smith, G.C.2
Moon, J.C.3
Bellenger, N.G.4
Collins, P.5
Klein, H.U.6
Pennell, D.J.7
-
66
-
-
84878316103
-
Clinical utility and prognostic value of left atrial volume assessment by cardiovascular magnetic resonance in non-ischaemic dilated cardiomyopathy
-
A. Gulati, T. F. Ismail, A. Jabbour, N. A. Ismail, K. Morarji, A. Ali, S. Raza, J. Khwaja, T. D. Brown, E. Liodakis, A. J. Baksi, R. Shakur, K. Guha, M. Roughton, R. Wage, S. A. Cook, F. Alpendurada, R. G. Assomull, R. H. Mohiaddin, M. R. Cowie, D. J. Pennell, S. K. Prasad, Clinical utility and prognostic value of left atrial volume assessment by cardiovascular magnetic resonance in non-ischaemic dilated cardiomyopathy. Eur. J. Heart Fail. 15, 660-670 (2013).
-
(2013)
Eur. J. Heart Fail.
, vol.15
, pp. 660-670
-
-
Gulati, A.1
Ismail, T.F.2
Jabbour, A.3
Ismail, N.A.4
Morarji, K.5
Ali, A.6
Raza, S.7
Khwaja, J.8
Brown, T.D.9
Liodakis, E.10
Baksi, A.J.11
Shakur, R.12
Guha, K.13
Roughton, M.14
Wage, R.15
Cook, S.A.16
Alpendurada, F.17
Assomull, R.G.18
Mohiaddin, R.H.19
Cowie, M.R.20
Pennell, D.J.21
Prasad, S.K.22
more..
-
67
-
-
34248230348
-
Cardiomyopathy, familial dilated
-
2118
-
M. R. Taylor, E. Carniel, L. Mestroni, Cardiomyopathy, familial dilated. Orphanet. J. Rare Dis. 1, 27 (2006). 24152, 32100-2, 32105-6, 32108-9, 32111-13, 32115, 32118-32119, 32122, 42107-26, 42129-32, and 44221. This publication reflects only the author's views, and the funders are
-
Orphanet. J. Rare Dis.
, vol.1
, pp. 27
-
-
Taylor, M.R.1
Carniel, E.2
Mestroni, L.3
|