-
1
-
-
0036772531
-
Gene copy number regulates the production of the human chemokine CCL3-L1
-
10.1002/1521-4141(2002010)32:10<3016::AID-IMMU3016>3.0.CO;2-D, 12355456
-
Townson JR, Barcellos LF, Nibbs RJ. Gene copy number regulates the production of the human chemokine CCL3-L1. Eur J Immunol 2002, 32(10):3016-3026. 10.1002/1521-4141(2002010)32:10<3016::AID-IMMU3016>3.0.CO;2-D, 12355456.
-
(2002)
Eur J Immunol
, vol.32
, Issue.10
, pp. 3016-3026
-
-
Townson, J.R.1
Barcellos, L.F.2
Nibbs, R.J.3
-
2
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
10.1126/science.1101160, 15637236
-
Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 2005, 307(5714):1434-1440. 10.1126/science.1101160, 15637236.
-
(2005)
Science
, vol.307
, Issue.5714
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
Catano, G.6
Nibbs, R.J.7
Freedman, B.I.8
Quinones, M.P.9
Bamshad, M.J.10
-
3
-
-
84864139010
-
Functional effects of CCL3L1 copy number
-
10.1038/gene.2012.5, 3409875, 22476153
-
Carpenter D, McIntosh R, Pleass R, Armour JAL. Functional effects of CCL3L1 copy number. Genes Immun 2012, 13:374-379. 10.1038/gene.2012.5, 3409875, 22476153.
-
(2012)
Genes Immun
, vol.13
, pp. 374-379
-
-
Carpenter, D.1
McIntosh, R.2
Pleass, R.3
Armour, J.A.L.4
-
4
-
-
32844460938
-
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
-
10.1038/nature04489, 16482158
-
Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 2006, 439(7078):851-855. 10.1038/nature04489, 16482158.
-
(2006)
Nature
, vol.439
, Issue.7078
, pp. 851-855
-
-
Aitman, T.J.1
Dong, R.2
Vyse, T.J.3
Norsworthy, P.J.4
Johnson, M.D.5
Smith, J.6
Mangion, J.7
Roberton-Lowe, C.8
Marshall, A.J.9
Petretto, E.10
-
5
-
-
34249815834
-
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
-
10.1038/ng2046, 2742197, 17529978
-
Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SCL, de Smith A, Blakemore AIF, et al. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 2007, 39(6):721-723. 10.1038/ng2046, 2742197, 17529978.
-
(2007)
Nat Genet
, vol.39
, Issue.6
, pp. 721-723
-
-
Fanciulli, M.1
Norsworthy, P.J.2
Petretto, E.3
Dong, R.4
Harper, L.5
Kamesh, L.6
Heward, J.M.7
Gough, S.C.L.8
de Smith, A.9
Blakemore, A.I.F.10
-
6
-
-
0042387792
-
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster
-
10.1086/378157, 1180683, 12916016
-
Hollox EJ, Armour JAL, Barber JCK. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 2003, 73(3):591-600. 10.1086/378157, 1180683, 12916016.
-
(2003)
Am J Hum Genet
, vol.73
, Issue.3
, pp. 591-600
-
-
Hollox, E.J.1
Armour, J.A.L.2
Barber, J.C.K.3
-
7
-
-
29144457296
-
Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23
-
10.1016/j.ygeno.2005.06.003, 16039093
-
Linzmeier RM, Ganz T. Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23. Genomics 2005, 86(4):423-430. 10.1016/j.ygeno.2005.06.003, 16039093.
-
(2005)
Genomics
, vol.86
, Issue.4
, pp. 423-430
-
-
Linzmeier, R.M.1
Ganz, T.2
-
8
-
-
25444457773
-
Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence
-
10.1186/1471-2164-5-92, 544879, 15588320
-
Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, et al. Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence. BMC Genomics 2004, 5(1):92. 10.1186/1471-2164-5-92, 544879, 15588320.
-
(2004)
BMC Genomics
, vol.5
, Issue.1
, pp. 92
-
-
Taudien, S.1
Galgoczy, P.2
Huse, K.3
Reichwald, K.4
Schilhabel, M.5
Szafranski, K.6
Shimizu, A.7
Asakawa, S.8
Frankish, A.9
Loncarevic, I.F.10
-
9
-
-
41849143395
-
CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1-infected individuals
-
10.1038/nm1741, 2630879, 18376407
-
Ahuja SK, Kulkarni H, Catano G, Agan BK, Camargo JF, He W, O'Connell RJ, Marconi VC, Delmar J, Eron J, et al. CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1-infected individuals. Nat Med 2008, 14(4):413-420. 10.1038/nm1741, 2630879, 18376407.
-
(2008)
Nat Med
, vol.14
, Issue.4
, pp. 413-420
-
-
Ahuja, S.K.1
Kulkarni, H.2
Catano, G.3
Agan, B.K.4
Camargo, J.F.5
He, W.6
O'Connell, R.J.7
Marconi, V.C.8
Delmar, J.9
Eron, J.10
-
10
-
-
56649118860
-
Role of CCL3L1-CCR5 genotypes in the epidemic spread of HIV-1 and evaluation of vaccine efficacy
-
10.1371/journal.pone.0003671, 2576446, 18989363
-
Kulkarni H, Marconi VC, Agan BK, McArthur C, Crawford G, Clark RA, Dolan MJ, Ahuja SK. Role of CCL3L1-CCR5 genotypes in the epidemic spread of HIV-1 and evaluation of vaccine efficacy. PLoS ONE 2008, 3(11):e3671. 10.1371/journal.pone.0003671, 2576446, 18989363.
-
(2008)
PLoS ONE
, vol.3
, Issue.11
-
-
Kulkarni, H.1
Marconi, V.C.2
Agan, B.K.3
McArthur, C.4
Crawford, G.5
Clark, R.A.6
Dolan, M.J.7
Ahuja, S.K.8
-
11
-
-
59249095595
-
Combinatorial content of CCL3L and CCL4L gene copy numbers influence HIV-AIDS susceptibility in Ukrainian children
-
2929972, 19279442
-
Shostakovich-Koretskaya L, Catano G, Chykarenko ZA, He W, Gornalusse G, Mummidi S, Sanchez R, Dolan MJ, Ahuja SS, Clark RA, et al. Combinatorial content of CCL3L and CCL4L gene copy numbers influence HIV-AIDS susceptibility in Ukrainian children. AIDS 2009, 23(6):679-688. 2929972, 19279442.
-
(2009)
AIDS
, vol.23
, Issue.6
, pp. 679-688
-
-
Shostakovich-Koretskaya, L.1
Catano, G.2
Chykarenko, Z.A.3
He, W.4
Gornalusse, G.5
Mummidi, S.6
Sanchez, R.7
Dolan, M.J.8
Ahuja, S.S.9
Clark, R.A.10
-
12
-
-
33748558056
-
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
-
10.1086/505915, 1559531, 16909382
-
Fellermann K, Stange DE, Schaeffeler E, Schmalzl H, Wehkamp J, Bevins CL, Reinisch W, Teml A, Schwab M, Lichter P, et al. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 2006, 79:439-448. 10.1086/505915, 1559531, 16909382.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 439-448
-
-
Fellermann, K.1
Stange, D.E.2
Schaeffeler, E.3
Schmalzl, H.4
Wehkamp, J.5
Bevins, C.L.6
Reinisch, W.7
Teml, A.8
Schwab, M.9
Lichter, P.10
-
13
-
-
37549033125
-
Psoriasis is associated with increased [beta]-defensin genomic copy number
-
10.1038/ng.2007.48, 2447885, 18059266
-
Hollox EJ, Huffmeier U, Zeeuwen PLJM, Palla R, Lascorz J, Rodijk-Olthuis D, van de Kerkhof PCM, Traupe H, de Jongh G, Heijer M, et al. Psoriasis is associated with increased [beta]-defensin genomic copy number. Nat Genet 2008, 40(1):23-25. 10.1038/ng.2007.48, 2447885, 18059266.
-
(2008)
Nat Genet
, vol.40
, Issue.1
, pp. 23-25
-
-
Hollox, E.J.1
Huffmeier, U.2
Zeeuwen, P.L.J.M.3
Palla, R.4
Lascorz, J.5
Rodijk-Olthuis, D.6
van de Kerkhof, P.C.M.7
Traupe, H.8
de Jongh, G.9
Heijer, M.10
-
14
-
-
78649479154
-
Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease
-
10.1093/hmg/ddq411, 2989891, 20858604
-
Aldhous MC, Abu Bakar S, Prescott NJ, Palla R, Soo K, Mansfield JC, Mathew CG, Satsangi J, Armour JAL. Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease. Hum Mol Genet 2010, 19(24):4930-4938. 10.1093/hmg/ddq411, 2989891, 20858604.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.24
, pp. 4930-4938
-
-
Aldhous, M.C.1
Abu Bakar, S.2
Prescott, N.J.3
Palla, R.4
Soo, K.5
Mansfield, J.C.6
Mathew, C.G.7
Satsangi, J.8
Armour, J.A.L.9
-
15
-
-
76349096044
-
Association of higher DEFB4 genomic copy number with Crohn's disease
-
10.1038/ajg.2009.582, 19809410
-
Bentley R, Pearson J, Gearry R, Barclay M, McKinney C, Merriman T, Roberts R. Association of higher DEFB4 genomic copy number with Crohn's disease. Am J Gastroenterol 2010, 105:354-359. 10.1038/ajg.2009.582, 19809410.
-
(2010)
Am J Gastroenterol
, vol.105
, pp. 354-359
-
-
Bentley, R.1
Pearson, J.2
Gearry, R.3
Barclay, M.4
McKinney, C.5
Merriman, T.6
Roberts, R.7
-
16
-
-
84871618643
-
Correlating multiallelic copy number polymorphisms with disease susceptibility
-
10.1002/humu.22172, 22837109
-
Cantsilieris S, White SJ. Correlating multiallelic copy number polymorphisms with disease susceptibility. Hum Mutat 2013, 34(1):1-13. 10.1002/humu.22172, 22837109.
-
(2013)
Hum Mutat
, vol.34
, Issue.1
, pp. 1-13
-
-
Cantsilieris, S.1
White, S.J.2
-
17
-
-
70350482745
-
CCL3L1 and HIV/AIDS susceptibility
-
10.1038/nm1009-1112, 19812561
-
Bhattacharya T, Stanton J, Kim E-Y, Kunstman KJ, Phair JP, Jacobson LP, Wolinsky SM. CCL3L1 and HIV/AIDS susceptibility. Nat Med 2009, 15(10):1112-1115. 10.1038/nm1009-1112, 19812561.
-
(2009)
Nat Med
, vol.15
, Issue.10
, pp. 1112-1115
-
-
Bhattacharya, T.1
Stanton, J.2
Kim, E.-Y.3
Kunstman, K.J.4
Phair, J.P.5
Jacobson, L.P.6
Wolinsky, S.M.7
-
18
-
-
80051788075
-
Accuracy and differential bias in copy number measurement of CCL3L1
-
10.1186/1471-2164-12-418, 3166952, 21851606
-
Carpenter D, Walker S, Prescott N, Schwalkwijk J, Armour JAL. Accuracy and differential bias in copy number measurement of CCL3L1. BMC Genomics 2011, 12:418. 10.1186/1471-2164-12-418, 3166952, 21851606.
-
(2011)
BMC Genomics
, vol.12
, pp. 418
-
-
Carpenter, D.1
Walker, S.2
Prescott, N.3
Schwalkwijk, J.4
Armour, J.A.L.5
-
19
-
-
70350455320
-
Experimental aspects of copy number variant assays at CCL3L1
-
10.1038/nm1009-1115, 2873561, 19812562
-
Field SF, Howson JMM, Maier LM, Walker S, Walker NM, Smyth DJ, Armour JAL, Clayton DG, Todd JA. Experimental aspects of copy number variant assays at CCL3L1. Nat Med 2009, 15:1115-1117. 10.1038/nm1009-1115, 2873561, 19812562.
-
(2009)
Nat Med
, vol.15
, pp. 1115-1117
-
-
Field, S.F.1
Howson, J.M.M.2
Maier, L.M.3
Walker, S.4
Walker, N.M.5
Smyth, D.J.6
Armour, J.A.L.7
Clayton, D.G.8
Todd, J.A.9
-
20
-
-
70350439651
-
Reply to: " CCL3L1 and HIV/AIDS susceptibility" and " Experimental aspects of copy number variant assays at CCL3L1"
-
10.1038/nm1009-1117, 19812563
-
He W, Kulkarni H, Castiblanco J, Shimizu C, Aluyen U, Maldonado R, Carrillo A, Griffin M, Lipsitt A, Beachy L, et al. Reply to: " CCL3L1 and HIV/AIDS susceptibility" and " Experimental aspects of copy number variant assays at CCL3L1". Nat Med 2009, 15(10):1117-1120. 10.1038/nm1009-1117, 19812563.
-
(2009)
Nat Med
, vol.15
, Issue.10
, pp. 1117-1120
-
-
He, W.1
Kulkarni, H.2
Castiblanco, J.3
Shimizu, C.4
Aluyen, U.5
Maldonado, R.6
Carrillo, A.7
Griffin, M.8
Lipsitt, A.9
Beachy, L.10
-
21
-
-
70350501376
-
CCL3L1 and HIV/AIDS susceptibility
-
10.1038/nm1009-1110, 2821825, 19812560
-
Urban TJ, Weintrob AC, Fellay J, Colombo S, Shianna KV, Gumbs C, Rotger M, Pelak K, Dang KK, Detels R, et al. CCL3L1 and HIV/AIDS susceptibility. Nat Med 2009, 15:1110-1112. 10.1038/nm1009-1110, 2821825, 19812560.
-
(2009)
Nat Med
, vol.15
, pp. 1110-1112
-
-
Urban, T.J.1
Weintrob, A.C.2
Fellay, J.3
Colombo, S.4
Shianna, K.V.5
Gumbs, C.6
Rotger, M.7
Pelak, K.8
Dang, K.K.9
Detels, R.10
-
22
-
-
70350450781
-
Gene copy number: learning to count past two
-
10.1038/nm1009-1127, 19812568
-
Shrestha S, Tang J, Kaslow RA. Gene copy number: learning to count past two. Nat Med 2009, 15(10):1127-1129. 10.1038/nm1009-1127, 19812568.
-
(2009)
Nat Med
, vol.15
, Issue.10
, pp. 1127-1129
-
-
Shrestha, S.1
Tang, J.2
Kaslow, R.A.3
-
23
-
-
84865614936
-
A mechanistic basis for amplification differences between samples and between genome regions
-
10.1186/1471-2164-13-455, 3469336, 22950736
-
Veal C, Freeman P, Jacobs K, Lancaster O, Jamain S, Leboyer M, Albanes D, Vaghela R, Gut I, Chanock S, et al. A mechanistic basis for amplification differences between samples and between genome regions. BMC Genomics 2012, 13(1):455. 10.1186/1471-2164-13-455, 3469336, 22950736.
-
(2012)
BMC Genomics
, vol.13
, Issue.1
, pp. 455
-
-
Veal, C.1
Freeman, P.2
Jacobs, K.3
Lancaster, O.4
Jamain, S.5
Leboyer, M.6
Albanes, D.7
Vaghela, R.8
Gut, I.9
Chanock, S.10
-
24
-
-
33847390726
-
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
-
10.1093/nar/gkl1089, 1807953, 17175532
-
Armour JAL, Palla R, Zeeuwen PLJM, den Heijer M, Schalkwijk J, Hollox EJ. Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res 2007, 35(3):e19. 10.1093/nar/gkl1089, 1807953, 17175532.
-
(2007)
Nucleic Acids Res
, vol.35
, Issue.3
-
-
Armour, J.A.L.1
Palla, R.2
Zeeuwen, P.L.J.M.3
den Heijer, M.4
Schalkwijk, J.5
Hollox, E.J.6
-
25
-
-
80051788075
-
Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders
-
10.1186/1471-2164-12-418, 3166952, 21851606
-
Carpenter D, Walker S, Prescott N, Schalkwijk J, Armour JAL. Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders. BMC Genomics 2011, 12(1):418. 10.1186/1471-2164-12-418, 3166952, 21851606.
-
(2011)
BMC Genomics
, vol.12
, Issue.1
, pp. 418
-
-
Carpenter, D.1
Walker, S.2
Prescott, N.3
Schalkwijk, J.4
Armour, J.A.L.5
-
26
-
-
57049140413
-
Multiplex paralogue ratio tests for accurate measurement of multiallelic CNVs
-
10.1016/j.ygeno.2008.09.004, 18848619
-
Walker S, Janyakhantikul S, Armour JAL. Multiplex paralogue ratio tests for accurate measurement of multiallelic CNVs. Genomics 2009, 93(1):98-103. 10.1016/j.ygeno.2008.09.004, 18848619.
-
(2009)
Genomics
, vol.93
, Issue.1
, pp. 98-103
-
-
Walker, S.1
Janyakhantikul, S.2
Armour, J.A.L.3
-
27
-
-
79952048505
-
Determination of beta-defensin genomic copy number in different populations: a comparison of three methods
-
10.1371/journal.pone.0016768, 3043064, 21364933
-
Fode P, Jespersgaard C, Hardwick RJ, Bogle H, Theisen M, Dodoo D, Lenicek M, Vitek L, Vieira A, Freitas J, et al. Determination of beta-defensin genomic copy number in different populations: a comparison of three methods. PLoS ONE 2011, 6(2):e16768. 10.1371/journal.pone.0016768, 3043064, 21364933.
-
(2011)
PLoS ONE
, vol.6
, Issue.2
-
-
Fode, P.1
Jespersgaard, C.2
Hardwick, R.J.3
Bogle, H.4
Theisen, M.5
Dodoo, D.6
Lenicek, M.7
Vitek, L.8
Vieira, A.9
Freitas, J.10
-
28
-
-
61649092570
-
An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus
-
10.1002/humu.20911, 3600569, 19143032
-
Hollox EJ, Detering J-C, Dehnugara T. An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus. Hum Mutat 2009, 30(3):477-484. 10.1002/humu.20911, 3600569, 19143032.
-
(2009)
Hum Mutat
, vol.30
, Issue.3
, pp. 477-484
-
-
Hollox, E.J.1
Detering, J.-C.2
Dehnugara, T.3
-
29
-
-
58849117701
-
Allelic crossover between distinct genomic locations generates copy number diversity in human beta-defensins
-
10.1073/pnas.0809073106, 2630076, 19131514
-
Abu Bakar S, Hollox EJ, Armour JAL. Allelic crossover between distinct genomic locations generates copy number diversity in human beta-defensins. Proc Natl Acad Sci U S A 2009, 106:853-858. 10.1073/pnas.0809073106, 2630076, 19131514.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 853-858
-
-
Abu Bakar, S.1
Hollox, E.J.2
Armour, J.A.L.3
-
30
-
-
26444577882
-
Copy number polymorphism and expression level variation of the human α-defensin genes DEFA1 and DEFA3
-
10.1093/hmg/ddi209, 15944200
-
Aldred PMR, Hollox EJ, Armour JAL. Copy number polymorphism and expression level variation of the human α-defensin genes DEFA1 and DEFA3. Hum Mol Genet 2005, 14(14):2045-2052. 10.1093/hmg/ddi209, 15944200.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.14
, pp. 2045-2052
-
-
Aldred, P.M.R.1
Hollox, E.J.2
Armour, J.A.L.3
-
31
-
-
0029616710
-
Inheritance of unequal numbers of the genes encoding the human neutrophil defensins HP-1 and HP-3
-
10.1074/jbc.270.51.30371, 8530462
-
Mars WM, Patmasiriwat P, Maity T, Huff V, Weil MM, Saunders GF. Inheritance of unequal numbers of the genes encoding the human neutrophil defensins HP-1 and HP-3. J Biol Chem 1995, 270(51):30371-30376. 10.1074/jbc.270.51.30371, 8530462.
-
(1995)
J Biol Chem
, vol.270
, Issue.51
, pp. 30371-30376
-
-
Mars, W.M.1
Patmasiriwat, P.2
Maity, T.3
Huff, V.4
Weil, M.M.5
Saunders, G.F.6
-
32
-
-
0026609053
-
Characterization of defensin precursors in mature human neutrophils
-
Harwig SS, Park AS, Lehrer RI. Characterization of defensin precursors in mature human neutrophils. Blood 1992, 79:1532-1537.
-
(1992)
Blood
, vol.79
, pp. 1532-1537
-
-
Harwig, S.S.1
Park, A.S.2
Lehrer, R.I.3
-
33
-
-
0023098960
-
Extracellular release of antimicrobial defensins by human polymorphonuclear leukocytes
-
260375, 3643886
-
Ganz T. Extracellular release of antimicrobial defensins by human polymorphonuclear leukocytes. Infect Immun 1987, 55(3):568-571. 260375, 3643886.
-
(1987)
Infect Immun
, vol.55
, Issue.3
, pp. 568-571
-
-
Ganz, T.1
-
34
-
-
77950405093
-
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
-
10.1038/nature08979, 2892339, 20360734, Wellcome Trust Case Control Consortium
-
Wellcome Trust Case Control Consortium Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010, 464:713-720. 10.1038/nature08979, 2892339, 20360734, Wellcome Trust Case Control Consortium.
-
(2010)
Nature
, vol.464
, pp. 713-720
-
-
-
35
-
-
84969213492
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
-
10.1038/nature05911, 2719288, 17554300, Wellcome Trust Case Control Consortium
-
Wellcome Trust Case Control Consortium Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447:661-678. 10.1038/nature05911, 2719288, 17554300, Wellcome Trust Case Control Consortium.
-
(2007)
Nature
, vol.447
, pp. 661-678
-
-
-
36
-
-
74249086566
-
Common genetic variation and the control of HIV-1 in humans
-
10.1371/journal.pgen.1000791, 2791220, 20041166
-
Fellay J, Ge D, Shianna KV, Colombo S, Ledergerber B, Cirulli ET, Urban TJ, Zhang K, Gumbs CE, Smith JP, et al. Common genetic variation and the control of HIV-1 in humans. PLoS Genet 2009, 5(12):e1000791. 10.1371/journal.pgen.1000791, 2791220, 20041166.
-
(2009)
PLoS Genet
, vol.5
, Issue.12
-
-
Fellay, J.1
Ge, D.2
Shianna, K.V.3
Colombo, S.4
Ledergerber, B.5
Cirulli, E.T.6
Urban, T.J.7
Zhang, K.8
Gumbs, C.E.9
Smith, J.P.10
-
37
-
-
67349252610
-
A common variant on chromosome 11q13 is associated with atopic dermatitis
-
10.1038/ng.347, 19349984
-
Esparza-Gordillo J, Weidinger S, Folster-Holst R, Bauerfeind A, Ruschendorf F, Patone G, Rohde K, Marenholz I, Schulz F, Kerscher T, et al. A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet 2009, 41(5):596-601. 10.1038/ng.347, 19349984.
-
(2009)
Nat Genet
, vol.41
, Issue.5
, pp. 596-601
-
-
Esparza-Gordillo, J.1
Weidinger, S.2
Folster-Holst, R.3
Bauerfeind, A.4
Ruschendorf, F.5
Patone, G.6
Rohde, K.7
Marenholz, I.8
Schulz, F.9
Kerscher, T.10
-
38
-
-
77950243833
-
Multiple common variants for celiac disease influencing immune gene expression
-
10.1038/ng.543, 2847618, 20190752
-
Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GAR, Adany R, Aromaa A, et al. Multiple common variants for celiac disease influencing immune gene expression. Nat Genet 2010, 42(4):295-302. 10.1038/ng.543, 2847618, 20190752.
-
(2010)
Nat Genet
, vol.42
, Issue.4
, pp. 295-302
-
-
Dubois, P.C.A.1
Trynka, G.2
Franke, L.3
Hunt, K.A.4
Romanos, J.5
Curtotti, A.6
Zhernakova, A.7
Heap, G.A.R.8
Adany, R.9
Aromaa, A.10
-
39
-
-
48349136889
-
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
-
10.1038/ng.175, 2574810, 18587394
-
Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmada MM, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008, 40(8):955-962. 10.1038/ng.175, 2574810, 18587394.
-
(2008)
Nat Genet
, vol.40
, Issue.8
, pp. 955-962
-
-
Barrett, J.C.1
Hansoul, S.2
Nicolae, D.L.3
Cho, J.H.4
Duerr, R.H.5
Rioux, J.D.6
Brant, S.R.7
Silverberg, M.S.8
Taylor, K.D.9
Barmada, M.M.10
-
40
-
-
52949091918
-
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
-
10.1038/ng.203, 2770437, 18758464
-
Kugathasan S, Baldassano RN, Bradfield JP, Sleiman PMA, Imielinski M, Guthery SL, Cucchiara S, Kim CE, Frackelton EC, Annaiah K, et al. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet 2008, 40(10):1211-1215. 10.1038/ng.203, 2770437, 18758464.
-
(2008)
Nat Genet
, vol.40
, Issue.10
, pp. 1211-1215
-
-
Kugathasan, S.1
Baldassano, R.N.2
Bradfield, J.P.3
Sleiman, P.M.A.4
Imielinski, M.5
Guthery, S.L.6
Cucchiara, S.7
Kim, C.E.8
Frackelton, E.C.9
Annaiah, K.10
-
41
-
-
34547621758
-
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
-
10.1038/nature06010, 17632545
-
Hakonarson H, Grant SFA, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, et al. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 2007, 448(7153):591-594. 10.1038/nature06010, 17632545.
-
(2007)
Nature
, vol.448
, Issue.7153
, pp. 591-594
-
-
Hakonarson, H.1
Grant, S.F.A.2
Bradfield, J.P.3
Marchand, L.4
Kim, C.E.5
Glessner, J.T.6
Grabs, R.7
Casalunovo, T.8
Taback, S.P.9
Frackelton, E.C.10
-
42
-
-
79957588506
-
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
-
10.1038/ng.838, 3296486, 21602797
-
Wright FA, Strug LJ, Doshi VK, Commander CW, Blackman SM, Sun L, Berthiaume Y, Cutler D, Cojocaru A, Collaco JM, et al. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet 2011, 43(6):539-546. 10.1038/ng.838, 3296486, 21602797.
-
(2011)
Nat Genet
, vol.43
, Issue.6
, pp. 539-546
-
-
Wright, F.A.1
Strug, L.J.2
Doshi, V.K.3
Commander, C.W.4
Blackman, S.M.5
Sun, L.6
Berthiaume, Y.7
Cutler, D.8
Cojocaru, A.9
Collaco, J.M.10
-
43
-
-
34548299105
-
Risk alleles for multiple sclerosis identified by a genomewide study
-
International Multiple Sclerosis Genetics Consortium
-
Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, et al. International Multiple Sclerosis Genetics Consortium Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 2007, 357(9):851-862. International Multiple Sclerosis Genetics Consortium.
-
(2007)
N Engl J Med
, vol.357
, Issue.9
, pp. 851-862
-
-
Hafler, D.A.1
Compston, A.2
Sawcer, S.3
Lander, E.S.4
Daly, M.J.5
De Jager, P.L.6
de Bakker, P.I.7
Gabriel, S.B.8
Mirel, D.B.9
-
44
-
-
45749143210
-
Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene
-
10.1093/hmg/ddn091, 2900900, 18364390
-
Capon F, Bijlmakers M-J, Wolf N, Quaranta M, Huffmeier U, Allen M, Timms K, Abkevich V, Gutin A, Smith R, et al. Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene. Hum Mol Genet 2008, 17:1938-1945. 10.1093/hmg/ddn091, 2900900, 18364390.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1938-1945
-
-
Capon, F.1
Bijlmakers, M.-J.2
Wolf, N.3
Quaranta, M.4
Huffmeier, U.5
Allen, M.6
Timms, K.7
Abkevich, V.8
Gutin, A.9
Smith, R.10
-
45
-
-
43249083380
-
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci
-
10.1371/journal.pgen.1000041, 2274885, 18369459
-
Liu Y, Helms C, Liao W, Zaba LC, Duan S, Gardner J, Wise C, Miner A, Malloy MJ, Pullinger CR, et al. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet 2008, 4(4):e1000041. 10.1371/journal.pgen.1000041, 2274885, 18369459.
-
(2008)
PLoS Genet
, vol.4
, Issue.4
-
-
Liu, Y.1
Helms, C.2
Liao, W.3
Zaba, L.C.4
Duan, S.5
Gardner, J.6
Wise, C.7
Miner, A.8
Malloy, M.J.9
Pullinger, C.R.10
-
46
-
-
59149087627
-
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study
-
10.1038/ng.275, 2652837, 19122664
-
Silverberg MS, Cho JH, Rioux JD, McGovern DPB, Wu J, Annese V, Achkar J-P, Goyette P, Scott R, Xu W, et al. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. Nat Genet 2009, 41(2):216-220. 10.1038/ng.275, 2652837, 19122664.
-
(2009)
Nat Genet
, vol.41
, Issue.2
, pp. 216-220
-
-
Silverberg, M.S.1
Cho, J.H.2
Rioux, J.D.3
McGovern, D.P.B.4
Wu, J.5
Annese, V.6
Achkar, J.-P.7
Goyette, P.8
Scott, R.9
Xu, W.10
-
47
-
-
84856137706
-
Alpha-defensin DEFA1A3 gene copy number elevation in Danish Crohn's disease patients
-
10.1007/s10620-011-1794-8, 21701837
-
Jespersgaard C, Fode P, Dybdahl M, Vind I, Nielsen OH, Csillag C, Munkholm P, Vainer B, Riis L, Elkjaer M, et al. Alpha-defensin DEFA1A3 gene copy number elevation in Danish Crohn's disease patients. Dig Dis Sci 2011, 56:3517-3524. 10.1007/s10620-011-1794-8, 21701837.
-
(2011)
Dig Dis Sci
, vol.56
, pp. 3517-3524
-
-
Jespersgaard, C.1
Fode, P.2
Dybdahl, M.3
Vind, I.4
Nielsen, O.H.5
Csillag, C.6
Munkholm, P.7
Vainer, B.8
Riis, L.9
Elkjaer, M.10
-
48
-
-
77949709988
-
Increased α-defensins 1-3 production by dendritic cells in HIV-infected individuals is associated with slower disease progression
-
10.1371/journal.pone.0009436, 2828484, 20195543
-
Rodríguez-García M, Climent N, Oliva H, Casanova V, Franco R, Leon A, Gatell JM, García F, Gallart T. Increased α-defensins 1-3 production by dendritic cells in HIV-infected individuals is associated with slower disease progression. PLoS ONE 2010, 5(2):e9436. 10.1371/journal.pone.0009436, 2828484, 20195543.
-
(2010)
PLoS ONE
, vol.5
, Issue.2
-
-
Rodríguez-García, M.1
Climent, N.2
Oliva, H.3
Casanova, V.4
Franco, R.5
Leon, A.6
Gatell, J.M.7
García, F.8
Gallart, T.9
-
49
-
-
77952974727
-
Increased genomic copy number of DEFA1/DEFA3 is associated with susceptibility to severe sepsis in Chinese Han population
-
10.1097/ALN.0b013e3181d968eb, 20502117
-
Chen QX, Hakimi M, Wu SJ, Jin Y, Cheng BL, Wang HH, Xie GH, Ganz T, Linzmeier RM, Fang X. Increased genomic copy number of DEFA1/DEFA3 is associated with susceptibility to severe sepsis in Chinese Han population. Anesthesiology 2010, 112:1428-1434. 10.1097/ALN.0b013e3181d968eb, 20502117.
-
(2010)
Anesthesiology
, vol.112
, pp. 1428-1434
-
-
Chen, Q.X.1
Hakimi, M.2
Wu, S.J.3
Jin, Y.4
Cheng, B.L.5
Wang, H.H.6
Xie, G.H.7
Ganz, T.8
Linzmeier, R.M.9
Fang, X.10
-
50
-
-
34250841166
-
Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans
-
10.1086/518257, 1867093, 17503323
-
Yang Y, Chung EK, Wu YL, Savelli SL, Nagaraja HN, Zhou B, Hebert M, Jones KN, Shu Y, Kitzmiller K, et al. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet 2007, 80(6):1037-1054. 10.1086/518257, 1867093, 17503323.
-
(2007)
Am J Hum Genet
, vol.80
, Issue.6
, pp. 1037-1054
-
-
Yang, Y.1
Chung, E.K.2
Wu, Y.L.3
Savelli, S.L.4
Nagaraja, H.N.5
Zhou, B.6
Hebert, M.7
Jones, K.N.8
Shu, Y.9
Kitzmiller, K.10
-
51
-
-
0036780616
-
Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex
-
10.1086/342777, 378539, 12226794
-
Chung EK, Yang Y, Rennebohm RM, Lokki M-L, Higgins GC, Jones KN, Zhou B, Blanchong CA, Yu CY. Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex. Am J Hum Genet 2002, 71(4):823-837. 10.1086/342777, 378539, 12226794.
-
(2002)
Am J Hum Genet
, vol.71
, Issue.4
, pp. 823-837
-
-
Chung, E.K.1
Yang, Y.2
Rennebohm, R.M.3
Lokki, M.-L.4
Higgins, G.C.5
Jones, K.N.6
Zhou, B.7
Blanchong, C.A.8
Yu, C.Y.9
-
52
-
-
65049091086
-
Accurate determination of copy number variations (CNVs): application to the α- and β-defensin CNVs
-
10.1016/j.jim.2009.03.002, 19298822
-
Nuytten H, Wlodarska I, Nackaerts K, Vermeire S, Vermeesch J, Cassiman J-J, Cuppens H. Accurate determination of copy number variations (CNVs): application to the α- and β-defensin CNVs. J Immunol Methods 2009, 344(1):35-44. 10.1016/j.jim.2009.03.002, 19298822.
-
(2009)
J Immunol Methods
, vol.344
, Issue.1
, pp. 35-44
-
-
Nuytten, H.1
Wlodarska, I.2
Nackaerts, K.3
Vermeire, S.4
Vermeesch, J.5
Cassiman, J.-J.6
Cuppens, H.7
-
53
-
-
84873750665
-
Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients
-
10.1016/j.gene.2013.01.011, 23333728
-
Cheng F-J, Zhou X-J, Zhao Y-F, Zhao M-H, Zhang H. Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients. Gene 2013, 517(2):158-163. 10.1016/j.gene.2013.01.011, 23333728.
-
(2013)
Gene
, vol.517
, Issue.2
, pp. 158-163
-
-
Cheng, F.-J.1
Zhou, X.-J.2
Zhao, Y.-F.3
Zhao, M.-H.4
Zhang, H.5
-
54
-
-
78049412267
-
Diversity of human copy number variation and multicopy genes
-
10.1126/science.1197005, 3020103, 21030649
-
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, Eichler EE, et al. Diversity of human copy number variation and multicopy genes. Science 2010, 330(6004):641-646. 10.1126/science.1197005, 3020103, 21030649.
-
(2010)
Science
, vol.330
, Issue.6004
, pp. 641-646
-
-
Sudmant, P.H.1
Kitzman, J.O.2
Antonacci, F.3
Alkan, C.4
Malig, M.5
Tsalenko, A.6
Sampas, N.7
Bruhn, L.8
Shendure, J.9
Eichler, E.E.10
-
55
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
10.1126/science.1181498, 19892942
-
Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 2010, 327(5961):78-81. 10.1126/science.1181498, 19892942.
-
(2010)
Science
, vol.327
, Issue.5961
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
Halpern, A.L.4
Burns, N.L.5
Kermani, B.G.6
Carnevali, P.7
Nazarenko, I.8
Nilsen, G.B.9
Yeung, G.10
-
56
-
-
79952474641
-
Population-genetic properties of differentiated human copy-number polymorphisms
-
10.1016/j.ajhg.2011.02.004, 3059424, 21397061
-
Campbell C, Sampas N, Tsalenko A, Sudmant P, Kidd J, Malig M, Vu T, Vives L, Tsang P, Bruhn L, et al. Population-genetic properties of differentiated human copy-number polymorphisms. Am J Hum Genet 2011, 88(3):317-332. 10.1016/j.ajhg.2011.02.004, 3059424, 21397061.
-
(2011)
Am J Hum Genet
, vol.88
, Issue.3
, pp. 317-332
-
-
Campbell, C.1
Sampas, N.2
Tsalenko, A.3
Sudmant, P.4
Kidd, J.5
Malig, M.6
Vu, T.7
Vives, L.8
Tsang, P.9
Bruhn, L.10
-
57
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
10.1038/nature08516, 3330748, 19812545
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, et al. Origins and functional impact of copy number variation in the human genome. Nature 2010, 464(7289):704-712. 10.1038/nature08516, 3330748, 19812545.
-
(2010)
Nature
, vol.464
, Issue.7289
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
-
58
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
10.1038/nature09708, 3077050, 21293372
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, et al. Mapping copy number variation by population-scale genome sequencing. Nature 2011, 470(7332):59-65. 10.1038/nature09708, 3077050, 21293372.
-
(2011)
Nature
, vol.470
, Issue.7332
, 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
-
59
-
-
84864609288
-
Copy number variation detection and genotyping from exome sequence data
-
10.1101/gr.138115.112, 3409265, 22585873, NHLBI Exome Sequencing Project N
-
Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, Quinlan AR, Nickerson DA, Eichler EE. NHLBI Exome Sequencing Project N Copy number variation detection and genotyping from exome sequence data. Genome Res 2012, 22:1525-1532. 10.1101/gr.138115.112, 3409265, 22585873, NHLBI Exome Sequencing Project N.
-
(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
|