-
1
-
-
84902578876
-
Diagnostic clinical genome and exome sequencing
-
Biesecker LG, Green RC: Diagnostic clinical genome and exome sequencing. N Engl J Med 370: 2418–2425, 2014
-
(2014)
N Engl J Med
, vol.370
, pp. 2418-2425
-
-
Biesecker, L.G.1
Green, R.C.2
-
2
-
-
84905108362
-
Next-generation sequencing for research and diagnostics in kidney disease
-
Renkema KY, Stokman MF, Giles RH, Knoers NV: Next-generation sequencing for research and diagnostics in kidney disease. Nat Rev Nephrol 10: 433–444, 2014
-
(2014)
Nat Rev Nephrol
, vol.10
, pp. 433-444
-
-
Renkema, K.Y.1
Stokman, M.F.2
Giles, R.H.3
Knoers, N.V.4
-
3
-
-
84875905994
-
Diagnostic applications of high-throughput DNA sequencing
-
Boyd SD: Diagnostic applications of high-throughput DNA sequencing. Annu Rev Pathol 8: 381–410, 2013
-
(2013)
Annu Rev Pathol
, vol.8
, pp. 381-410
-
-
Boyd, S.D.1
-
4
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J: Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12: 745–755, 2011
-
(2011)
Nat Rev Genet
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
Tabor, H.K.4
Emond, M.J.5
Nickerson, D.A.6
Shendure, J.7
-
5
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM: Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 369: 1502–1511, 2013
-
(2013)
N Engl J Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
Bainbridge, M.N.4
Willis, A.5
Ward, P.A.6
Braxton, A.7
Beuten, J.8
Xia, F.9
Niu, Z.10
Hardison, M.11
Person, R.12
Bekheirnia, M.R.13
Leduc, M.S.14
Kirby, A.15
Pham, P.16
Scull, J.17
Wang, M.18
Ding, Y.19
Plon, S.E.20
Lupski, J.R.21
Beaudet, A.L.22
Gibbs, R.A.23
Eng, C.M.24
more..
-
6
-
-
84906077328
-
Syndromes of thrombotic microangiopathy
-
George JN, Nester CM: Syndromes of thrombotic microangiopathy. N Engl J Med 371: 654–666, 2014
-
(2014)
N Engl J Med
, vol.371
, pp. 654-666
-
-
George, J.N.1
Nester, C.M.2
-
7
-
-
84902177244
-
Genetics of atypical hemolytic uremic syndrome (aHUS)
-
Rodríguez de Córdoba S, Hidalgo MS, Pinto S, Tortajada A: Genetics of atypical hemolytic uremic syndrome (aHUS). Semin Thromb Hemost 40: 422–430, 2014
-
(2014)
Semin Thromb Hemost
, vol.40
, pp. 422-430
-
-
Rodríguez De Córdoba, S.1
Hidalgo, M.S.2
Pinto, S.3
Tortajada, A.4
-
9
-
-
84927156913
-
The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease
-
Bhattacharjee A, Reuter S, Trojnár E, Kolodziejczyk R, Seeberger H, Hyvärinen S, Uzonyi B, Szilágyi Á, Prohászka Z, Goldman A, Józsi M, Jokiranta TS: The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease. J Biol Chem 290: 9500–9510, 2015
-
(2015)
J Biol Chem
, vol.290
, pp. 9500-9510
-
-
Bhattacharjee, A.1
Reuter, S.2
Trojnár, E.3
Kolodziejczyk, R.4
Seeberger, H.5
Hyvärinen, S.6
Uzonyi, B.7
Szilágyi, Á.8
Prohászka, Z.9
Goldman, A.10
Józsi, M.11
Jokiranta, T.S.12
-
10
-
-
0035807348
-
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
-
Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D, Tsai HM: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413: 488–494, 2001
-
(2001)
Nature
, vol.413
, pp. 488-494
-
-
Levy, G.G.1
Nichols, W.C.2
Lian, E.C.3
Foroud, T.4
McClintick, J.N.5
McGee, B.M.6
Yang, A.Y.7
Siemieniak, D.R.8
Stark, K.R.9
Gruppo, R.10
Sarode, R.11
Shurin, S.B.12
Chandrasekaran, V.13
Stabler, S.P.14
Sabio, H.15
Bouhassira, E.E.16
Upshaw, J.D.17
Ginsburg, D.18
Tsai, H.M.19
-
11
-
-
0034674030
-
Antibody inhibitors to von Willebrand factor metalloproteinase and increased binding of von Willebrand factor to platelets in ticlopidine-associated thrombotic thrombocytopenic purpura
-
Tsai HM, Rice L, Sarode R, Chow TW, Moake JL: Antibody inhibitors to von Willebrand factor metalloproteinase and increased binding of von Willebrand factor to platelets in ticlopidine-associated thrombotic thrombocytopenic purpura. Ann Intern Med 132: 794–799, 2000
-
(2000)
Ann Intern Med
, vol.132
, pp. 794-799
-
-
Tsai, H.M.1
Rice, L.2
Sarode, R.3
Chow, T.W.4
Moake, J.L.5
-
12
-
-
85190342508
-
Update on C3 glomerulopathy
-
Barbour, TD, Ruseva, MM, Pickering, MC: Update on C3 glomerulopathy. Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association - European Renal Association, 2014.
-
(2014)
Nephrology, Dialysis, Transplantation: Official Publication of The European Dialysis and Transplant Association - European Renal Association
-
-
Barbour, T.D.1
Ruseva, M.M.2
Pickering, M.C.3
-
14
-
-
84923874251
-
Defining the complement biomarker profile of C3 glomerulopathy
-
Zhang Y, Nester CM, Martin B, Skjoedt MO, Meyer NC, Shao D, Borsa N, Palarasah Y, Smith RJ: Defining the complement biomarker profile of C3 glomerulopathy. Clin J Am Soc Nephrol 9: 1876–1882, 2014
-
(2014)
Clin J Am Soc Nephrol
, vol.9
, pp. 1876-1882
-
-
Zhang, Y.1
Nester, C.M.2
Martin, B.3
Skjoedt, M.O.4
Meyer, N.C.5
Shao, D.6
Borsa, N.7
Palarasah, Y.8
Smith, R.J.9
-
15
-
-
84902291006
-
C3 glomerulopathy: The genetic and clinical findings in dense deposit disease and C3 glomerulonephritis
-
Xiao X, Pickering MC, Smith RJ: C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis. Semin Thromb Hemost 40: 465–471, 2014
-
(2014)
Semin Thromb Hemost
, vol.40
, pp. 465-471
-
-
Xiao, X.1
Pickering, M.C.2
Smith, R.J.3
-
16
-
-
84891753035
-
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome
-
Bu F, Maga T, Meyer NC, Wang K, Thomas CP, Nester CM, Smith RJ: Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome. J Am Soc Nephrol 25: 55–64, 2014
-
(2014)
J Am Soc Nephrol
, vol.25
, pp. 55-64
-
-
Bu, F.1
Maga, T.2
Meyer, N.C.3
Wang, K.4
Thomas, C.P.5
Nester, C.M.6
Smith, R.J.7
-
17
-
-
78651237647
-
Identifying a high fraction of the human genome to be under selective constraint using GERP++
-
Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A, Batzoglou S: Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLOS Comput Biol 6: e1001025, 2010
-
(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
-
18
-
-
22244452677
-
NISC Comparative Sequencing Program: Distribution and intensity of constraint in mammalian genomic sequence
-
Cooper GM, Stone EA, Asimenos G, Green ED, Batzoglou S, Sidow A; NISC Comparative Sequencing Program: Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 15: 901–913, 2005
-
(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
-
19
-
-
84897456458
-
MutationTaster2: Mutation prediction for the deep-sequencing age
-
Schwarz JM, Cooper DN, Schuelke M, Seelow D: MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11: 361–362, 2014
-
(2014)
Nat Methods
, vol.11
, pp. 361-362
-
-
Schwarz, J.M.1
Cooper, D.N.2
Schuelke, M.3
Seelow, D.4
-
20
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods 7: 248–249, 2010
-
(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
-
21
-
-
68149165614
-
Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC: Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073–1081, 2009
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
22
-
-
69749122314
-
Identification of deleterious mutations within three human genomes
-
Chun S, Fay JC: Identification of deleterious mutations within three human genomes. Genome Res 19: 1553–1561, 2009
-
(2009)
Genome Res
, vol.19
, pp. 1553-1561
-
-
Chun, S.1
Fay, J.C.2
-
23
-
-
75649133611
-
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome
-
Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Staniforth SJ, Holmes LV, Ward R, Morgan L, Goodship TH, Marchbank KJ: Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood 115: 379–387, 2010
-
(2010)
Blood
, vol.115
, pp. 379-387
-
-
Moore, I.1
Strain, L.2
Pappworth, I.3
Kavanagh, D.4
Barlow, P.N.5
Herbert, A.P.6
Schmidt, C.Q.7
Staniforth, S.J.8
Holmes, L.V.9
Ward, R.10
Morgan, L.11
Goodship, T.H.12
Marchbank, K.J.13
-
24
-
-
84874610717
-
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype
-
European Working Party on Complement Genetics in Renal Diseases
-
Bresin E, Rurali E, Caprioli J, Sanchez-Corral P, Fremeaux-Bacchi V, Rodriguez de Cordoba S, Pinto S, Goodship TH, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M; European Working Party on Complement Genetics in Renal Diseases: Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. J Am Soc Nephrol 24: 475–486, 2013
-
(2013)
J Am Soc Nephrol
, vol.24
, pp. 475-486
-
-
Bresin, E.1
Rurali, E.2
Caprioli, J.3
Sanchez-Corral, P.4
Fremeaux-Bacchi, V.5
Rodriguez De Cordoba, S.6
Pinto, S.7
Goodship, T.H.8
Alberti, M.9
Ribes, D.10
Valoti, E.11
Remuzzi, G.12
Noris, M.13
-
25
-
-
84883200746
-
Advancing genetic testing for deafness with genomic technology
-
Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ: Advancing genetic testing for deafness with genomic technology. J Med Genet 50: 627–634, 2013
-
(2013)
J Med Genet
, vol.50
, pp. 627-634
-
-
Shearer, A.E.1
Black-Ziegelbein, E.A.2
Hildebrand, M.S.3
Eppsteiner, R.W.4
Ravi, H.5
Joshi, S.6
Guiffre, A.C.7
Sloan, C.M.8
Happe, S.9
Howard, S.D.10
Novak, B.11
Deluca, A.P.12
Taylor, K.R.13
Scheetz, T.E.14
Braun, T.A.15
Casavant, T.L.16
Kimberling, W.J.17
Leproust, E.M.18
Smith, R.J.19
-
26
-
-
84906557611
-
Clinical findings, pathology, and outcomes of C3GN after kidney transplantation
-
Zand L, Lorenz EC, Cosio FG, Fervenza FC, Nasr SH, Gandhi MJ, Smith RJ, Sethi S: Clinical findings, pathology, and outcomes of C3GN after kidney transplantation. J Am Soc Nephrol 25: 1110–1117, 2014
-
(2014)
J Am Soc Nephrol
, vol.25
, pp. 1110-1117
-
-
Zand, L.1
Lorenz, E.C.2
Cosio, F.G.3
Fervenza, F.C.4
Nasr, S.H.5
Gandhi, M.J.6
Smith, R.J.7
Sethi, S.8
-
27
-
-
36849095685
-
Toronto Glomerulonephritis Registry: Remission of proteinuria improves prognosis in IgA nephropathy
-
Reich HN, Troyanov S, Scholey JW, Cattran DC; Toronto Glomerulonephritis Registry: Remission of proteinuria improves prognosis in IgA nephropathy. J Am Soc Nephrol 18: 3177–3183, 2007
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 3177-3183
-
-
Reich, H.N.1
Troyanov, S.2
Scholey, J.W.3
Cattran, D.C.4
-
28
-
-
34547633064
-
Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome
-
French Society of Pediatric Nephrology
-
Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, Tsimaratos M, Fischbach M, Morin D, Nivet H, Alberti C, Loirat C; French Society of Pediatric Nephrology: Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol 18: 2392–2400, 2007
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 2392-2400
-
-
Sellier-Leclerc, A.L.1
Fremeaux-Bacchi, V.2
Dragon-Durey, M.A.3
Macher, M.A.4
Niaudet, P.5
Guest, G.6
Boudailliez, B.7
Bouissou, F.8
Deschenes, G.9
Gie, S.10
Tsimaratos, M.11
Fischbach, M.12
Morin, D.13
Nivet, H.14
Alberti, C.15
Loirat, C.16
-
29
-
-
84922349792
-
Loss of DGK« induces endothelial cell activation and death independently of complement activation
-
Bruneau S, Néel M, Roumenina LT, Frimat M, Laurent L, Frémeaux-Bacchi V, Fakhouri F: Loss of DGK« induces endothelial cell activation and death independently of complement activation. Blood 125: 1038–1046, 2015
-
(2015)
Blood
, vol.125
, pp. 1038-1046
-
-
Bruneau, S.1
Néel, M.2
Roumenina, L.T.3
Frimat, M.4
Laurent, L.5
Frémeaux-Bacchi, V.6
Fakhouri, F.7
-
30
-
-
84884194561
-
The Polarizable Atomic Multipole-based AMOEBA Force Field for Proteins
-
Shi Y, Xia Z, Zhang J, Best R, Wu C, Ponder JW, Ren P: The Polarizable Atomic Multipole-based AMOEBA Force Field for Proteins. J Chem Theory Comput 9: 4046–4063, 2013
-
(2013)
J Chem Theory Comput
, vol.9
, pp. 4046-4063
-
-
Shi, Y.1
Xia, Z.2
Zhang, J.3
Best, R.4
Wu, C.5
Ponder, J.W.6
Ren, P.7
-
31
-
-
80053994130
-
Polarizable Atomic Multipole-based Molecular Mechanics for Organic Molecules
-
Ren P, Wu C, Ponder JW: Polarizable Atomic Multipole-based Molecular Mechanics for Organic Molecules. J Chem Theory Comput 7: 3143–3161, 2011
-
(2011)
J Chem Theory Comput
, vol.7
, pp. 3143-3161
-
-
Ren, P.1
Wu, C.2
Ponder, J.W.3
-
32
-
-
79958079887
-
A smoothed backbone-dependent rotamer library for proteins derived from adaptive kernel density estimates and regressions
-
Shapovalov MV, Dunbrack RL Jr: A smoothed backbone-dependent rotamer library for proteins derived from adaptive kernel density estimates and regressions. Structure 19: 844–858, 2011
-
(2011)
Structure
, vol.19
, pp. 844-858
-
-
Shapovalov, M.V.1
Dunbrack, R.L.2
|