-
1
-
-
58149328823
-
Extending genome-wide association studies to copy-number variation
-
McCarroll S A. Extending genome-wide association studies to copy-number variation. Hum Mol Genet, 2008, 17 (R2):R135-142
-
(2008)
Hum. Mol. Genet.
, vol.17
, Issue.R2
-
-
McCarroll, S.A.1
-
2
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate A J, Feuk L, Rivera M N, et al. Detection of large-scale variation in the human genome. Nat Genet, 2004, 36(9):949-951
-
(2004)
Nat. Genet.
, vol.36
, Issue.9
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
-
3
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science, 2004, 305(5683):525-528
-
(2004)
Science
, vol.305
, Issue.5683
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
-
4
-
-
33751329250
-
Global variation in copy number in the human genome
-
DOI 10.1038/nature05329, PII NATURE05329
-
Redon R, Ishikawa S, Fitch K R, et al. Global variation in copy number in the human genome. Nature, 2006, 444(7118):444-454 (Pubitemid 44809057)
-
(2006)
Nature
, vol.444
, Issue.7118
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
Gonzalez, J.R.14
Gratacos, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
MacDonald, J.R.19
Marshall, C.R.20
Mei, R.21
Montgomery, L.22
Nishimura, K.23
Okamura, K.24
Shen, F.25
Somerville, M.J.26
Tchinda, J.27
Valsesia, A.28
Woodwark, C.29
Yang, F.30
Zhang, J.31
Zerjal, T.32
Zhang, J.33
Armengol, L.34
Conrad, D.F.35
Estivill, X.36
Tyler-Smith, C.37
Carter, N.P.38
Aburatani, H.39
Lee, C.40
Jones, K.W.41
Scherer, S.W.42
Hurles, M.E.43
more..
-
5
-
-
57149102071
-
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
-
Ionita-Laza I, Rogers A J, Lange C, et al. Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics, 2009, 93(1):22-26
-
(2009)
Genomics
, vol.93
, Issue.1
, pp. 22-26
-
-
Ionita-Laza, I.1
Rogers, A.J.2
Lange, C.3
-
6
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll S A, Kuruvilla F G, Kom J M, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet, 2008, 40(10):1166-1174
-
(2008)
Nat. Genet.
, vol.40
, Issue.10
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Kom, J.M.3
-
7
-
-
31144469134
-
Structural variation in the human genome
-
Feuk L, Carson A R, Scherer S W. Structural variation in the human genome. Nat Rev Genet, 2006, 7(2):85-97
-
(2006)
Nat. Rev. Genet.
, vol.7
, Issue.2
, pp. 85-97
-
-
Feuk, L.1
Carson, A.R.2
Scherer, S.W.3
-
8
-
-
35948991932
-
Copy number variants and common disorders: Filling the gaps and exploring complexity in genome-wide association studies
-
Estivill X, Armengol L. Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. PLoS Genet, 2007, 3(10):1787-1799
-
(2007)
PLoS Genet.
, vol.3
, Issue.10
, pp. 1787-1799
-
-
Estivill, X.1
Armengol, L.2
-
9
-
-
46249093584
-
Strong association of de novo copy number mutations with sporadic schizophrenia
-
Xu B, Roos J L, Levy S, et al. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet, 2008, 40(7):880-885
-
(2008)
Nat. Genet.
, vol.40
, Issue.7
, pp. 880-885
-
-
Xu, B.1
Roos, J.L.2
Levy, S.3
-
10
-
-
34447569298
-
Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability
-
Beckmann J S, Estivill X, Antonarakis S E. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet, 2007, 8(8):639-646
-
(2007)
Nat. Rev. Genet.
, vol.8
, Issue.8
, pp. 639-646
-
-
Beckmann, J.S.1
Estivill, X.2
Antonarakis, S.E.3
-
11
-
-
34347339520
-
Methods and strategies for analyzing copy number variation using DNA microarrays
-
Carter N P. Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet, 2007, 39(7 Suppl):S16-21
-
(2007)
Nat. Genet.
, vol.39
, Issue.7 SUPPL.
-
-
Carter, N.P.1
-
12
-
-
57149123783
-
Genome-wide copy-numbervariation study identified a susceptibility gene, UGT2B17, for osteoporosis
-
Yang T L, Chen X D, Guo Y, et al. Genome-wide copy-numbervariation study identified a susceptibility gene, UGT2B17, for osteoporosis. Am J Hum Genet, 2008, 83(6):663-674
-
(2008)
Am. J. Hum. Genet.
, vol.83
, Issue.6
, pp. 663-674
-
-
Yang, T.L.1
Chen, X.D.2
Guo, Y.3
-
13
-
-
38449122025
-
Copy-number variation in control population cohorts
-
Pinto D, Marshall C, Feuk L, et al. Copy-number variation in control population cohorts. Hum Mol Genet, 2007, 16(2):R168-173
-
(2007)
Hum. Mol. Genet.
, vol.16
, Issue.2
-
-
Pinto, D.1
Marshall, C.2
Feuk, L.3
-
14
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature, 2008, 455(7210):232-236
-
(2008)
Nature
, vol.455
, Issue.7210
, pp. 232-236
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
-
15
-
-
34347349069
-
Genomic rearrangements and sporadic disease
-
Lupski J R. Genomic rearrangements and sporadic disease. Nat Genet, 2007, 39(7 Suppl):S43-47
-
(2007)
Nat. Genet.
, vol.39
, Issue.7 SUPPL.
-
-
Lupski, J.R.1
-
16
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science, 2007, 316(5823):445-449
-
(2007)
Science
, vol.316
, Issue.5823
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
-
17
-
-
39049163023
-
Association between microdeletion and microduplication at 16pl 1.2 and autism
-
Weiss L A, Shen Y, Korn J M, et al. Association between microdeletion and microduplication at 16pl 1.2 and autism. N Engl J Med, 2008, 358(7):667-675
-
(2008)
N. Engl. J. Med.
, vol.358
, Issue.7
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
-
18
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
International Schizophrenia Consortium
-
The International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature, 2008, 455(7210):237-241
-
(2008)
Nature
, vol.455
, Issue.7210
, pp. 237-241
-
-
-
19
-
-
47649090861
-
Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population
-
Bae J S, Cheong H S, Kim J O, et al. Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population. Biochem Biophys Res Commun, 2008, 373(4):593-596
-
(2008)
Biochem. Biophys. Res. Commun.
, vol.373
, Issue.4
, pp. 593-596
-
-
Bae, J.S.1
Cheong, H.S.2
Kim, J.O.3
-
20
-
-
53049109352
-
Recurrent CNVs disrupt three candidate genes in schizophrenia patients
-
Vrijenhoek T, Buizer-Voskamp J E, van der Stelt I, et al. Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet, 2008, 83(4):504-510
-
(2008)
Am. J. Hum. Genet.
, vol.83
, Issue.4
, pp. 504-510
-
-
Vrijenhoek, T.1
Buizer-Voskamp, J.E.2
Van Der Stelt, I.3
|