-
1
-
-
34447569298
-
Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability
-
Beckmann, J.S., Estivill, X., and Antonarakis, S.E. (2007) Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet 8, 639-46.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 639-646
-
-
Beckmann, J.S.1
Estivill, X.2
Antonarakis, S.E.3
-
2
-
-
34347361618
-
Copy number variations and clinical cytogenetic diagnosis of constitutional disor ders
-
Lee, C., Iafrate, A.J., and Brothman, A.R. (2007) Copy number variations and clinical cytogenetic diagnosis of constitutional disor ders. Nat Genet 39, S48-54.
-
(2007)
Nat Genet
, vol.39
-
-
Lee, C.1
Iafrate, A.J.2
Brothman, A.R.3
-
3
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd, J.M., Cooper, G.M., Donahue, W.F., Hayden, H.S., Sampas, N., Graves, T., et al. (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 453, 56-64.
-
(2008)
Nature
, vol.453
, pp. 56-64
-
-
Kidd, J.M.1
Cooper, G.M.2
Donahue, W.F.3
Hayden, H.S.4
Sampas, N.5
Graves, T.6
-
4
-
-
33847258335
-
Pharmacogenetics of cancer chemotherapy
-
Abraham, J., Earl, H.M., Pharoah, P.D., and Caldas, C. (2006) Pharmacogenetics of cancer chemotherapy. Biochim Biophys Acta 1766, 168-83.
-
(2006)
Biochim Biophys Acta
, vol.1766
, pp. 168-183
-
-
Abraham, J.1
Earl, H.M.2
Pharoah, P.D.3
Caldas, C.4
-
5
-
-
15444377414
-
Applications of whole-genome high-density SNP genotyping
-
Craig, D. W., and Stephan, D. A. (2005) Applications of whole-genome high-density SNP genotyping. Expert Rev Mol Diagn 5, 159-70.
-
(2005)
Expert Rev Mol Diagn
, vol.5
, pp. 159-170
-
-
Craig, D.W.1
Stephan, D.A.2
-
6
-
-
36148934874
-
SNPs in disease gene mapping, medicinal drug development and evolution
-
Shastry, B.S. (2007) SNPs in disease gene mapping, medicinal drug development and evolution. J Hum Genet 52, 871-80.
-
(2007)
J Hum Genet
, vol.52
, pp. 871-880
-
-
Shastry, B.S.1
-
7
-
-
57149099396
-
Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history
-
Kim, P.M., Lam, H.Y., Urban, A.E., Korbel, J.O., Affourtit, J., Grubert, F., et al. (2008) Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history. Genome Res 18, 1865-74.
-
(2008)
Genome Res
, vol.18
, pp. 1865-1874
-
-
Kim, P.M.1
Lam, H.Y.2
Urban, A.E.3
Korbel, J.O.4
Affourtit, J.5
Grubert, F.6
-
8
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon, R., Ishikawa, S., Fitch, K.R., Feuk, L., Perry, G.H., Andrews, T.D., et al. (2006) Global variation in copy number in the human genome. Nature 444, 444-54.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
-
9
-
-
33846006596
-
A comprehensive analysis of common copy-number variations in the human genome
-
Wong, K.K., deLeeuw, R.J., Dosanjh, N.S., Kimm, L.R., Cheng, Z., Horsman, D.E., et al. (2007) A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80, 91-104.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 91-104
-
-
Wong, K.K.1
Deleeuw, R.J.2
Dosanjh, N.S.3
Kimm, L.R.4
Cheng, Z.5
Horsman, D.E.6
-
10
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305, 525-8.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
-
11
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp, A.J., Locke, D.P., McGrath, S.D., Cheng, Z., Bailey, J.A., Vallente, R.U., et al. (2005) Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 77, 78-88.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 78-88
-
-
Sharp, A.J.1
Locke, D.P.2
McGrath, S.D.3
Cheng, Z.4
Bailey, J.A.5
Vallente, R.U.6
-
12
-
-
0034028921
-
Structure of chromosomal duplicons and their role in mediating human genomic disorders
-
Ji, Y., Eichler, E.E., Schwartz, S., and Nicholls, R.D. (2000) Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 10, 597-610.
-
(2000)
Genome Res
, vol.10
, pp. 597-610
-
-
Ji, Y.1
Eichler, E.E.2
Schwartz, S.3
Nicholls, R.D.4
-
13
-
-
33751320069
-
Human genomics: In search of normality
-
Shianna, K.V., and Willard, H.F. (2006) Human genomics: in search of normality. Nature 444, 428-9.
-
(2006)
Nature
, vol.444
, pp. 428-429
-
-
Shianna, K.V.1
Willard, H.F.2
-
14
-
-
59749098567
-
Emerging themes and new challenges in defning the role of structural variation in human disease
-
Sharp, A.J. (2009) Emerging themes and new challenges in defning the role of structural variation in human disease. Hum Mutat 30, 135-44.
-
(2009)
Hum Mutat
, vol.30
, pp. 135-144
-
-
Sharp, A.J.1
-
15
-
-
33645124027
-
Bias of selection on human copy-number variants
-
Nguyen, D.Q., Webber, C., and Ponting, C.P. (2006) Bias of selection on human copy-number variants. PLoS Genet 2, e20.
-
(2006)
PLoS Genet
, vol.2
-
-
Nguyen, D.Q.1
Webber, C.2
Ponting, C.P.3
-
16
-
-
31144469134
-
Structural variation in the human genome
-
Feuk, L., Carson, A.R., and Scherer, S.W. (2006) Structural variation in the human genome. Nat Rev Genet 7, 85-97.
-
(2006)
Nat Rev Genet
, vol.7
, pp. 85-97
-
-
Feuk, L.1
Carson, A.R.2
Scherer, S.W.3
-
17
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
Stranger, B. E., Forrest, M. S., Dunning, M., Ingle, C. E., Beazley, C., Thorne, N., et al. (2007) Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315, 848-53.
-
(2007)
Science
, vol.315
, pp. 848-853
-
-
Stranger, B.E.1
Forrest, M.S.2
Dunning, M.3
Ingle, C.E.4
Beazley, C.5
Thorne, N.6
-
18
-
-
57149102071
-
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
-
Ionita-Laza, I., Rogers, A.J., Lange, C., Raby, B.A., and Lee, C. (2008) Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics 93, 22-6.
-
(2008)
Genomics
, vol.93
, pp. 22-26
-
-
Ionita-Laza, I.1
Rogers, A.J.2
Lange, C.3
Raby, B.A.4
Lee, C.5
-
19
-
-
0028951010
-
Numbers and ratios of visual pigment genes for normal red-green color vision
-
Neitz, M., and Neitz, J. (1995) Numbers and ratios of visual pigment genes for normal red-green color vision. Science 267, 1013-6.
-
(1995)
Science
, vol.267
, pp. 1013-1016
-
-
Neitz, M.1
Neitz, J.2
-
20
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun, E., Sharp, A.J., Bailey, J.A., Kaul, R., Morrison, V.A., Pertz, L.M., et al. (2005) Fine-scale structural variation of the human genome. Nat Genet 37, 727-32.
-
(2005)
Nat Genet
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
Sharp, A.J.2
Bailey, J.A.3
Kaul, R.4
Morrison, V.A.5
Pertz, L.M.6
-
21
-
-
0028905919
-
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
-
Rodrigues, N.R., Owen, N., Talbot, K., Ignatius, J., Dubowitz, V., and Davies, K.E. (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4, 631-4.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 631-634
-
-
Rodrigues, N.R.1
Owen, N.2
Talbot, K.3
Ignatius, J.4
Dubowitz, V.5
Davies, K.E.6
-
22
-
-
20044377204
-
The infuence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
Gonzalez, E., Kulkarni, H., Bolivar, H., Mangano, A., Sanchez, R., Catano, G., et al. (2005) The infuence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307, 1434-40.
-
(2005)
Science
, vol.307
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
Catano, G.6
-
23
-
-
25444432040
-
Diagnostic genome profling in mental retardation
-
de Vries, B.B., Pfundt, R., Leisink, M., Koolen, D.A., Vissers, L.E., Janssen, I.M., et al. (2005) Diagnostic genome profling in mental retardation. Am J Hum Genet 77, 606-16.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 606-616
-
-
De Vries, B.B.1
Pfundt, R.2
Leisink, M.3
Koolen, D.A.4
Vissers, L.E.5
Janssen, I.M.6
-
24
-
-
0028785098
-
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
-
Hahnen, E., Forkert, R., Marke, C., Rudnik-Schoneborn, S., Schonling, J., Zerres, K., and Wirth, B. (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4, 1927-33.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1927-1933
-
-
Hahnen, E.1
Forkert, R.2
Marke, C.3
Rudnik-Schoneborn, S.4
Schonling, J.5
Zerres, K.6
Wirth, B.7
-
25
-
-
29244439913
-
Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy
-
Chen, W.J., Wu, Z.Y., Wang, N., Lin, M.T., and Mu-rong, S.X. (2005) Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22, 559-602.
-
(2005)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.22
, pp. 559-602
-
-
Chen, W.J.1
Wu, Z.Y.2
Wang, N.3
Lin, M.T.4
Mu-Rong, S.X.5
-
26
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
Feldkotter, M., Schwarzer, V., Wirth, R., Wienker, T.F., and Wirth, B. (2002) Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70, 358-68.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
27
-
-
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
-
Yang, Y., Chung, E.K., Wu, Y.L., Savelli, S.L., Nagaraja, H.N., Zhou, B., et al. (2007) 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 80, 1037-54.
-
(2007)
Am J Hum Genet
, vol.80
, 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
-
28
-
-
36148976077
-
Infuence of cytochrome P450 polymorphisms on drug therapies: Pharmacogenetic, pharma-coepigenetic and clinical aspects
-
Ingelman-Sundberg, M., Sim, S.C., Gomez, A., and Rodriguez-Antona, C. (2007) Infuence of cytochrome P450 polymorphisms on drug therapies: pharmacogenetic, pharma-coepigenetic and clinical aspects. Pharmacol Ther 116, 496-526.
-
(2007)
Pharmacol Ther
, vol.116
, pp. 496-526
-
-
Ingelman-Sundberg, M.1
Sim, S.C.2
Gomez, A.3
Rodriguez-Antona, C.4
-
29
-
-
33847018803
-
Pharmacogenetic screening of the gene deletion and duplications of CYP2D6
-
Meijerman, I., Sanderson, L.M., Smits, P.H., Beijnen, J.H., and Schellens, J.H. (2007) Pharmacogenetic screening of the gene deletion and duplications of CYP2D6. Drug Metab Rev 39, 45-60.
-
(2007)
Drug Metab Rev
, vol.39
, pp. 45-60
-
-
Meijerman, I.1
Sanderson, L.M.2
Smits, P.H.3
Beijnen, J.H.4
Schellens, J.H.5
-
30
-
-
34547756934
-
Copy-number variations and human disease
-
Hegele, R.A. (2007) Copy-number variations and human disease. Am J Hum Genet 81, 414-5.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 414-415
-
-
Hegele, R.A.1
-
31
-
-
0039276808
-
Triplicated alpha-globin loci in humans
-
Goossens, M., Dozy, A.M., Embury, S.H., Zachariades, Z., Hadjiminas, M.G., Stama-toyannopoulos, G., and Kan, Y.W. (1980) Triplicated alpha-globin loci in humans. Proc Natl Acad Sci USA 77, 518-21.
-
(1980)
Proc Natl Acad Sci USA
, vol.77
, pp. 518-521
-
-
Goossens, M.1
Dozy, A.M.2
Embury, S.H.3
Zachariades, Z.4
Hadjiminas, M.G.5
Stama-Toyannopoulos, G.6
Kan, Y.W.7
-
32
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate, A.J., Feuk, L., Rivera, M.N., Listewnik, M.L., Donahoe, P.K., Qi, Y., et al. (2004) Detection of large-scale variation in the human genome. Nat Genet 36, 949-51.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
-
33
-
-
34247124695
-
Resolving the resolution of array CGH
-
Coe, B.P., Ylstra, B., Carvalho, B., Meijer, G.A., Macaulay, C., and Lam, W.L. (2007) Resolving the resolution of array CGH. Genomics 89, 647-53.
-
(2007)
Genomics
, vol.89
, pp. 647-653
-
-
Coe, B.P.1
Ylstra, B.2
Carvalho, B.3
Meijer, G.A.4
MacAulay, C.5
Lam, W.L.6
-
34
-
-
34247168476
-
What a difference copy number variation makes
-
Kehrer-Sawatzki, H. (2007) What a difference copy number variation makes. Bioessays 29, 311-3.
-
(2007)
Bioessays
, vol.29
, pp. 311-313
-
-
Kehrer-Sawatzki, H.1
-
35
-
-
33746513094
-
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
-
Locke, D.P., Sharp, A.J., McCarroll, S.A., McGrath, S.D., Newman, T.L., Cheng, Z., et al. (2006) Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 79, 275-90.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 275-290
-
-
Locke, D.P.1
Sharp, A.J.2
McCarroll, S.A.3
McGrath, S.D.4
Newman, T.L.5
Cheng, Z.6
-
36
-
-
35348897165
-
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
-
Hoyer, J., Dreweke, A., Becker, C., Gohring, I., Thiel, C.T., Peippo, M.M., et al. (2007) Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet 44, 629-36.
-
(2007)
J Med Genet
, vol.44
, pp. 629-636
-
-
Hoyer, J.1
Dreweke, A.2
Becker, C.3
Gohring, I.4
Thiel, C.T.5
Peippo, M.M.6
-
37
-
-
34848904050
-
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation
-
Wagenstaller, J., Spranger, S., Lorenz-Depiereux, B., Kazmierczak, B., Nathrath, M., Wahl, D., et al. (2007) Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet 81, 768-79.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 768-779
-
-
Wagenstaller, J.1
Spranger, S.2
Lorenz-Depiereux, B.3
Kazmierczak, B.4
Nathrath, M.5
Wahl, D.6
-
38
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., et al. (2007) Strong association of de novo copy number mutations with autism. Science 316, 445-9.
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
Walsh, T.6
-
39
-
-
35748971743
-
Array CGH analysis of copy number variation identifes 1284 new genes variant in healthy white males: Implications for association studies of complex diseases
-
de Smith, A.J., Tsalenko, A., Sampas, N., Scheffer, A., Yamada, N. A., Tsang, P., Ben-Dor, A., Yakhini, Z., Ellis, R.J., Bruhn, L., Laderman, S., Froguel, P., and Blakemore, A.I. (2007) Array CGH analysis of copy number variation identifes 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet 16, 2783-94.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2783-2794
-
-
De Smith, A.J.1
Tsalenko, A.2
Sampas, N.3
Scheffer, A.4
Yamada, N.A.5
Tsang, P.6
Ben-Dor, A.7
Yakhini, Z.8
Ellis, R.J.9
Bruhn, L.10
Laderman, S.11
Froguel, P.12
Blakemore, A.I.13
-
40
-
-
19944376457
-
Global identifcation of human transcribed sequences with genome tiling arrays
-
Bertone, P., Stolc, V., Royce, T.E., Rozowsky, J.S., Urban, A.E., Zhu, X., et al. (2004) Global identifcation of human transcribed sequences with genome tiling arrays. Science 306, 2242-6.
-
(2004)
Science
, vol.306
, pp. 2242-2246
-
-
Bertone, P.1
Stolc, V.2
Royce, T.E.3
Rozowsky, J.S.4
Urban, A.E.5
Zhu, X.6
-
41
-
-
34250332235
-
Mapping of transcription factor binding regions in mammalian cells by ChIP: Comparison of array-and sequencing-based technologies
-
Euskirchen, G.M., Rozowsky, J.S., Wei, C.L., Lee, W.H., Zhang, Z.D., Hartman, S., et al. (2007) Mapping of transcription factor binding regions in mammalian cells by ChIP: comparison of array-and sequencing-based technologies. Genome Res 17, 898-909.
-
(2007)
Genome Res
, vol.17
, pp. 898-909
-
-
Euskirchen, G.M.1
Rozowsky, J.S.2
Wei, C.L.3
Lee, W.H.4
Zhang, Z.D.5
Hartman, S.6
-
42
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
McCarroll, S.A., Hadnott, T.N., Perry, G.H., Sabeti, P.C., Zody, M.C., Barrett, J.C., et al. (2006) Common deletion polymorphisms in the human genome. Nat Genet 38, 86-92.
-
(2006)
Nat Genet
, vol.38
, pp. 86-92
-
-
McCarroll, S.A.1
Hadnott, T.N.2
Perry, G.H.3
Sabeti, P.C.4
Zody, M.C.5
Barrett, J.C.6
-
43
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel, J.O., Urban, A.E., Affourtit, J.P., Godwin, B., Grubert, F., Simons, J.F., et al. (2007) Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420-6.
-
(2007)
Science
, vol.318
, pp. 420-426
-
-
Korbel, J.O.1
Urban, A.E.2
Affourtit, J.P.3
Godwin, B.4
Grubert, F.5
Simons, J.F.6
-
44
-
-
44349191457
-
Identifcation of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
-
Campbell, P.J., Stephens, P.J., Pleasance, E.D., O'Meara, S., Li, H., Santarius, T., et al. (2008) Identifcation of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 40, 722-9.
-
(2008)
Nat Genet
, vol.40
, pp. 722-729
-
-
Campbell, P.J.1
Stephens, P.J.2
Pleasance, E.D.3
O'Meara, S.4
Li, H.5
Santarius, T.6
-
45
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler, D.A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., et al. (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature 452, 872-6.
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
McGuire, A.6
-
46
-
-
7244247384
-
Shotgun sequence assembly and recent segmental duplications within the human genome
-
She, X., Jiang, Z., Clark, R.A., Liu, G., Cheng, Z., Tuzun, E., et al. (2004) Shotgun sequence assembly and recent segmental duplications within the human genome. Nature 431, 927-30.
-
(2004)
Nature
, vol.431
, pp. 927-930
-
-
She, X.1
Jiang, Z.2
Clark, R.A.3
Liu, G.4
Cheng, Z.5
Tuzun, E.6
-
47
-
-
0037837485
-
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
-
Cheung, J., Estivill, X., Khaja, R., MacDonald, J.R., Lau, K., Tsui, L.C., and Scherer, S.W. (2003) Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol 4, R25.
-
(2003)
Genome Biol
, vol.4
-
-
Cheung, J.1
Estivill, X.2
Khaja, R.3
MacDonald, J.R.4
Lau, K.5
Tsui, L.C.6
Scherer, S.W.7
-
48
-
-
41149140876
-
The fne-scale and complex architecture of human copy-number variation
-
Perry, G.H., Ben-Dor, A., Tsalenko, A., Sampas, N., Rodriguez-Revenga, L., Tran, C.W., et al. (2008) The fne-scale and complex architecture of human copy-number variation. Am J Hum Genet 82, 685-95.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 685-695
-
-
Perry, G.H.1
Ben-Dor, A.2
Tsalenko, A.3
Sampas, N.4
Rodriguez-Revenga, L.5
Tran, C.W.6
-
49
-
-
0026879614
-
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
-
Patel, P.I., Roa, B.B., Welcher, A.A., Schoener-Scott, R., Trask, B. J., Pentao, L., et al. (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1, 159-65.
-
(1992)
Nat Genet
, vol.1
, pp. 159-165
-
-
Patel, P.I.1
Roa, B.B.2
Welcher, A.A.3
Schoener-Scott, R.4
Trask, B.J.5
Pentao, L.6
-
50
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Szatmari, P., Paterson, A.D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X.Q., et al. (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39, 319-28.
-
(2007)
Nat Genet
, vol.39
, pp. 319-328
-
-
Szatmari, P.1
Paterson, A.D.2
Zwaigenbaum, L.3
Roberts, W.4
Brian, J.5
Liu, X.Q.6
-
51
-
-
34147169956
-
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
-
Potocki, L., Bi, W., Treadwell-Deering, D., Carvalho, C.M., Eifert, A., Friedman, E.M., et al. (2007) Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80, 633-49.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 633-649
-
-
Potocki, L.1
Bi, W.2
Treadwell-Deering, D.3
Carvalho, C.M.4
Eifert, A.5
Friedman, E.M.6
-
52
-
-
0842326677
-
Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia
-
Liu, H., Heath, S.C., Sobin, C., Roos, J.L., Galke, B.L., Blundell, M.L., et al. (2002) Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Proc Natl Acad Sci USA 99, 3717-22.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 3717-3722
-
-
Liu, H.1
Heath, S.C.2
Sobin, C.3
Roos, J.L.4
Galke, B.L.5
Blundell, M.L.6
-
53
-
-
33748558056
-
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
-
Fellermann, K., Stange, D.E., Schaeffeler, E., Schmalzl, H., Wehkamp, J., Bevins, C.L., et al. (2006) 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 79, 439-48.
-
(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
|