-
1
-
-
52449123090
-
A proline-to-histidine mutation in POU1F1 is associated with production traits in dairy cattle
-
Huang W, Maltecca C, Khatib H, (2008) A proline-to-histidine mutation in POU1F1 is associated with production traits in dairy cattle. Anim Genet 39: 554-557.
-
(2008)
Anim Genet
, vol.39
, pp. 554-557
-
-
Huang, W.1
Maltecca, C.2
Khatib, H.3
-
2
-
-
39049119431
-
Mutations in the STAT5A gene are associated with embryonic survival and milk composition in cattle
-
Khatib H, Monson RL, Schutzkus V, Kohl DM, Rosa GJ, et al. (2008) Mutations in the STAT5A gene are associated with embryonic survival and milk composition in cattle. J Dairy Sci 91: 784-793.
-
(2008)
J Dairy Sci
, vol.91
, pp. 784-793
-
-
Khatib, H.1
Monson, R.L.2
Schutzkus, V.3
Kohl, D.M.4
Rosa, G.J.5
-
3
-
-
78149436393
-
Genome wide association studies for milk production traits in Chinese Holstein population
-
Jiang L, Liu J, Sun D, Ma P, Ding X, et al. (2010) Genome wide association studies for milk production traits in Chinese Holstein population. PLoS One 5: e13661.
-
(2010)
PLoS One
, vol.5
-
-
Jiang, L.1
Liu, J.2
Sun, D.3
Ma, P.4
Ding, X.5
-
4
-
-
4644260752
-
Evidence for multiple alleles at the DGAT1 locus better explains a quantitative trait locus with major effect on milk fat content in cattle
-
Kuhn C, Thaller G, Winter A, Bininda-Emonds OR, Kaupe B, et al. (2004) Evidence for multiple alleles at the DGAT1 locus better explains a quantitative trait locus with major effect on milk fat content in cattle. Genetics 167: 1873-1881.
-
(2004)
Genetics
, vol.167
, pp. 1873-1881
-
-
Kuhn, C.1
Thaller, G.2
Winter, A.3
Bininda-Emonds, O.R.4
Kaupe, B.5
-
5
-
-
33746741125
-
Copy number variation: new insights in genome diversity
-
Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, et al. (2006) Copy number variation: new insights in genome diversity. Genome Res 16: 949-961.
-
(2006)
Genome Res
, vol.16
, pp. 949-961
-
-
Freeman, J.L.1
Perry, G.H.2
Feuk, L.3
Redon, R.4
McCarroll, S.A.5
-
6
-
-
33751349817
-
Accurate and reliable high-throughput detection of copy number variation in the human genome
-
Fiegler H, Redon R, Andrews D, Scott C, Andrews R, et al. (2006) Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res 16: 1566-1574.
-
(2006)
Genome Res
, vol.16
, pp. 1566-1574
-
-
Fiegler, H.1
Redon, R.2
Andrews, D.3
Scott, C.4
Andrews, R.5
-
7
-
-
61849115785
-
Copy number variation in the human genome and its implication in autoimmunity
-
Schaschl H, Aitman TJ, Vyse TJ, (2009) Copy number variation in the human genome and its implication in autoimmunity. Clin Exp Immunol 156: 12-16.
-
(2009)
Clin Exp Immunol
, vol.156
, pp. 12-16
-
-
Schaschl, H.1
Aitman, T.J.2
Vyse, T.J.3
-
8
-
-
3042786485
-
Utility of impedance cardiography to determine cardiac vs. noncardiac cause of dyspnea in the emergency department
-
Springfield CL, Sebat F, Johnson D, Lengle S, Sebat C, (2004) Utility of impedance cardiography to determine cardiac vs. noncardiac cause of dyspnea in the emergency department. Congest Heart Fail 10: 14-16.
-
(2004)
Congest Heart Fail
, vol.10
, pp. 14-16
-
-
Springfield, C.L.1
Sebat, F.2
Johnson, D.3
Lengle, S.4
Sebat, C.5
-
9
-
-
33751345434
-
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays
-
Komura D, Shen F, Ishikawa S, Fitch KR, Chen W, et al. (2006) Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res 16: 1575-1584.
-
(2006)
Genome Res
, vol.16
, pp. 1575-1584
-
-
Komura, D.1
Shen, F.2
Ishikawa, S.3
Fitch, K.R.4
Chen, W.5
-
10
-
-
41149140876
-
The fine-scale and complex architecture of human copy-number variation
-
Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, et al. (2008) The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet 82: 685-695.
-
(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
-
11
-
-
20944442436
-
Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains
-
Adams DJ, Dermitzakis ET, Cox T, Smith J, Davies R, et al. (2005) Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains. Nat Genet 37: 532-536.
-
(2005)
Nat Genet
, vol.37
, pp. 532-536
-
-
Adams, D.J.1
Dermitzakis, E.T.2
Cox, T.3
Smith, J.4
Davies, R.5
-
12
-
-
35348960370
-
Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies
-
Kohler JR, Cutler DJ, (2007) Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies. Am J Hum Genet 81: 684-699.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 684-699
-
-
Kohler, J.R.1
Cutler, D.J.2
-
13
-
-
33846614650
-
A high-resolution map of segmental DNA copy number variation in the mouse genome
-
Graubert TA, Cahan P, Edwin D, Selzer RR, Richmond TA, et al. (2007) A high-resolution map of segmental DNA copy number variation in the mouse genome. PLoS Genet 3: e3.
-
(2007)
PLoS Genet
, vol.3
-
-
Graubert, T.A.1
Cahan, P.2
Edwin, D.3
Selzer, R.R.4
Richmond, T.A.5
-
14
-
-
46249114293
-
Mouse segmental duplication and copy number variation
-
She X, Cheng Z, Zollner S, Church DM, Eichler EE, (2008) Mouse segmental duplication and copy number variation. Nat Genet 40: 909-914.
-
(2008)
Nat Genet
, vol.40
, pp. 909-914
-
-
She, X.1
Cheng, Z.2
Zollner, S.3
Church, D.M.4
Eichler, E.E.5
-
15
-
-
38049055222
-
Genomic copy number and expression variation within the C57BL/6J inbred mouse strain
-
Watkins-Chow DE, Pavan WJ, (2008) Genomic copy number and expression variation within the C57BL/6J inbred mouse strain. Genome Res 18: 60-66.
-
(2008)
Genome Res
, vol.18
, pp. 60-66
-
-
Watkins-Chow, D.E.1
Pavan, W.J.2
-
16
-
-
42649117472
-
Distribution and functional impact of DNA copy number variation in the rat
-
Guryev V, Saar K, Adamovic T, Verheul M, van Heesch SA, et al. (2008) Distribution and functional impact of DNA copy number variation in the rat. Nat Genet 40: 538-545.
-
(2008)
Nat Genet
, vol.40
, pp. 538-545
-
-
Guryev, V.1
Saar, K.2
Adamovic, T.3
Verheul, M.4
van Heesch, S.A.5
-
17
-
-
57749173441
-
Nucleotide and copy-number polymorphism at the odorant receptor genes Or22a and Or22b in Drosophila melanogaster
-
Aguade M, (2009) Nucleotide and copy-number polymorphism at the odorant receptor genes Or22a and Or22b in Drosophila melanogaster. Mol Biol Evol 26: 61-70.
-
(2009)
Mol Biol Evol
, vol.26
, pp. 61-70
-
-
Aguade, M.1
-
18
-
-
46249105777
-
Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster
-
Emerson JJ, Cardoso-Moreira M, Borevitz JO, Long M, (2008) Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster. Science 320: 1629-1631.
-
(2008)
Science
, vol.320
, pp. 1629-1631
-
-
Emerson, J.J.1
Cardoso-Moreira, M.2
Borevitz, J.O.3
Long, M.4
-
19
-
-
61849154119
-
Mapping DNA structural variation in dogs
-
Chen WK, Swartz JD, Rush LJ, Alvarez CE, (2009) Mapping DNA structural variation in dogs. Genome Res 19: 500-509.
-
(2009)
Genome Res
, vol.19
, pp. 500-509
-
-
Chen, W.K.1
Swartz, J.D.2
Rush, L.J.3
Alvarez, C.E.4
-
20
-
-
58049191440
-
A snapshot of CNVs in the pig genome
-
Fadista J, Nygaard M, Holm LE, Thomsen B, Bendixen C, (2008) A snapshot of CNVs in the pig genome. PLoS One 3: e3916.
-
(2008)
PLoS One
, vol.3
-
-
Fadista, J.1
Nygaard, M.2
Holm, L.E.3
Thomsen, B.4
Bendixen, C.5
-
21
-
-
79952112002
-
Copy number variation in the porcine genome inferred from a 60 k SNP BeadChip
-
Ramayo-Caldas Y, Castello A, Pena RN, Alves E, Mercade A, et al. (2010) Copy number variation in the porcine genome inferred from a 60 k SNP BeadChip. BMC Genomics 11: 593.
-
(2010)
BMC Genomics
, vol.11
, pp. 593
-
-
Ramayo-Caldas, Y.1
Castello, A.2
Pena, R.N.3
Alves, E.4
Mercade, A.5
-
22
-
-
77950637626
-
Identification of copy number variations and common deletion polymorphisms in cattle
-
Bae JS, Cheong HS, Kim LH, NamGung S, Park TJ, et al. (2010) Identification of copy number variations and common deletion polymorphisms in cattle. BMC Genomics 11: 232.
-
(2010)
BMC Genomics
, vol.11
, pp. 232
-
-
Bae, J.S.1
Cheong, H.S.2
Kim, L.H.3
NamGung, S.4
Park, T.J.5
-
23
-
-
77951840186
-
Copy number variation in the bovine genome
-
Fadista J, Thomsen B, Holm LE, Bendixen C, (2010) Copy number variation in the bovine genome. BMC Genomics 11: 284.
-
(2010)
BMC Genomics
, vol.11
, pp. 284
-
-
Fadista, J.1
Thomsen, B.2
Holm, L.E.3
Bendixen, C.4
-
24
-
-
79951849727
-
Genomic characteristics of cattle copy number variations
-
Hou Y, Liu GE, Bickhart DM, Cardone MF, Wang K, et al. (2011) Genomic characteristics of cattle copy number variations. BMC Genomics 12: 127.
-
(2011)
BMC Genomics
, vol.12
, pp. 127
-
-
Hou, Y.1
Liu, G.E.2
Bickhart, D.M.3
Cardone, M.F.4
Wang, K.5
-
25
-
-
77951798133
-
Analysis of copy number variations among diverse cattle breeds
-
Liu GE, Hou Y, Zhu B, Cardone MF, Jiang L, et al. (2010) Analysis of copy number variations among diverse cattle breeds. Genome Res 20: 693-703.
-
(2010)
Genome Res
, vol.20
, pp. 693-703
-
-
Liu, G.E.1
Hou, Y.2
Zhu, B.3
Cardone, M.F.4
Jiang, L.5
-
26
-
-
84858442084
-
Genomic regions showing copy number variations associate with resistance or susceptibility to gastrointestinal nematodes in Angus cattle
-
Hou Y, Liu GE, Bickhart DM, Matukumalli LK, Li C, et al. (2011) Genomic regions showing copy number variations associate with resistance or susceptibility to gastrointestinal nematodes in Angus cattle. Funct Integr Genomics 12: 81-92.
-
(2011)
Funct Integr Genomics
, vol.12
, pp. 81-92
-
-
Hou, Y.1
Liu, G.E.2
Bickhart, D.M.3
Matukumalli, L.K.4
Li, C.5
-
28
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
-
29
-
-
67449106767
-
DNA copy number variation and gene expression analyses reveal the implication of specific oncogenes and genes in GBM
-
Margareto J, Leis O, Larrarte E, Pomposo IC, Garibi JM, et al. (2009) DNA copy number variation and gene expression analyses reveal the implication of specific oncogenes and genes in GBM. Cancer Invest 27: 541-548.
-
(2009)
Cancer Invest
, vol.27
, pp. 541-548
-
-
Margareto, J.1
Leis, O.2
Larrarte, E.3
Pomposo, I.C.4
Garibi, J.M.5
-
30
-
-
55949100282
-
Small-scale copy number variation and large-scale changes in gene expression
-
Mileyko Y, Joh RI, Weitz JS, (2008) Small-scale copy number variation and large-scale changes in gene expression. Proc Natl Acad Sci U S A 105: 16659-16664.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 16659-16664
-
-
Mileyko, Y.1
Joh, R.I.2
Weitz, J.S.3
-
31
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, et al. (2007) Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315: 848-853.
-
(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
-
32
-
-
67651219230
-
Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens
-
Wright D, Boije H, Meadows JR, Bed'hom B, Gourichon D, et al. (2009) Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens. PLoS Genet 5: e1000512.
-
(2009)
PLoS Genet
, vol.5
-
-
Wright, D.1
Boije, H.2
Meadows, J.R.3
Bed'hom, B.4
Gourichon, D.5
-
33
-
-
48949085489
-
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sheep
-
Norris BJ, Whan VA, (2008) A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sheep. Genome Res 18: 1282-1293.
-
(2008)
Genome Res
, vol.18
, pp. 1282-1293
-
-
Norris, B.J.1
Whan, V.A.2
-
34
-
-
84868677444
-
Copy number variation in the genomes of domestic animals
-
Clop A, Vidal O, Amills M (2011) Copy number variation in the genomes of domestic animals. Anim Genet.
-
(2011)
Anim Genet.
-
-
Clop, A.1
Vidal, O.2
Amills, M.3
-
35
-
-
43049100493
-
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
-
Cusco I, Corominas R, Bayes M, Flores R, Rivera-Brugues N, et al. (2008) Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Genome Res 18: 683-694.
-
(2008)
Genome Res
, vol.18
, pp. 683-694
-
-
Cusco, I.1
Corominas, R.2
Bayes, M.3
Flores, R.4
Rivera-Brugues, N.5
-
36
-
-
34547730931
-
Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk
-
Frank B, Bermejo JL, Hemminki K, Sutter C, Wappenschmidt B, et al. (2007) Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk. Carcinogenesis 28: 1442-1445.
-
(2007)
Carcinogenesis
, vol.28
, pp. 1442-1445
-
-
Frank, B.1
Bermejo, J.L.2
Hemminki, K.3
Sutter, C.4
Wappenschmidt, B.5
-
37
-
-
35448983964
-
Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)
-
Wang J, Hegele RA, (2007) Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650). Lipids Health Dis 6: 23.
-
(2007)
Lipids Health Dis
, vol.6
, pp. 23
-
-
Wang, J.1
Hegele, R.A.2
-
38
-
-
39549091294
-
Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis
-
McKinney C, Merriman ME, Chapman PT, Gow PJ, Harrison AA, et al. (2008) Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann Rheum Dis 67: 409-413.
-
(2008)
Ann Rheum Dis
, vol.67
, pp. 409-413
-
-
McKinney, C.1
Merriman, M.E.2
Chapman, P.T.3
Gow, P.J.4
Harrison, A.A.5
-
39
-
-
76249088426
-
Copy number variations and cancer
-
Shlien A, Malkin D, (2009) Copy number variations and cancer. Genome Med 1: 62.
-
(2009)
Genome Med
, vol.1
, pp. 62
-
-
Shlien, A.1
Malkin, D.2
-
40
-
-
35748971743
-
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases
-
de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, et al. (2007) Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet 16: 2783-2794.
-
(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
-
41
-
-
33745942916
-
Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH
-
de Bustos C, Diaz de Stahl T, Piotrowski A, Mantripragada KK, Buckley PG, et al. (2006) Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. Genomics 88: 152-162.
-
(2006)
Genomics
, vol.88
, pp. 152-162
-
-
de Bustos, C.1
Diaz de Stahl, T.2
Piotrowski, A.3
Mantripragada, K.K.4
Buckley, P.G.5
-
42
-
-
34047214632
-
Detecting copy number variation in the human genome using comparative genomic hybridization
-
389 passim
-
Tchinda J, Lee C (2006) Detecting copy number variation in the human genome using comparative genomic hybridization. Biotechniques 41: 385, 387, 389 passim.
-
(2006)
Biotechniques
, vol.41
, pp. 385-387
-
-
Tchinda, J.1
Lee, C.2
-
43
-
-
61649106714
-
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
-
Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, et al. (2009) SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat 30: 371-378.
-
(2009)
Hum Mutat
, vol.30
, pp. 371-378
-
-
Kamath, B.M.1
Thiel, B.D.2
Gai, X.3
Conlin, L.K.4
Munoz, P.S.5
-
44
-
-
62549137441
-
CNV discovery using SNP genotyping arrays
-
Yau C, Holmes CC, (2008) CNV discovery using SNP genotyping arrays. Cytogenet Genome Res 123: 307-312.
-
(2008)
Cytogenet Genome Res
, vol.123
, pp. 307-312
-
-
Yau, C.1
Holmes, C.C.2
-
45
-
-
57149102071
-
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
-
Ionita-Laza I, Rogers AJ, Lange C, Raby BA, Lee C, (2009) Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics 93: 22-26.
-
(2009)
Genomics
, vol.93
, pp. 22-26
-
-
Ionita-Laza, I.1
Rogers, A.J.2
Lange, C.3
Raby, B.A.4
Lee, C.5
-
46
-
-
82155192885
-
Hot topic: performance of bovine high-density genotyping platforms in Holsteins and Jerseys
-
Rincon G, Weber KL, Eenennaam AL, Golden BL, Medrano JF, (2012) Hot topic: performance of bovine high-density genotyping platforms in Holsteins and Jerseys. J Dairy Sci 94: 6116-6121.
-
(2012)
J Dairy Sci
, vol.94
, pp. 6116-6121
-
-
Rincon, G.1
Weber, K.L.2
Eenennaam, A.L.3
Golden, B.L.4
Medrano, J.F.5
-
47
-
-
78049412267
-
Diversity of human copy number variation and multicopy genes
-
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, et al. (2010) Diversity of human copy number variation and multicopy genes. Science 330: 641-646.
-
(2010)
Science
, vol.330
, pp. 641-646
-
-
Sudmant, P.H.1
Kitzman, J.O.2
Antonacci, F.3
Alkan, C.4
Malig, M.5
-
48
-
-
84859535421
-
Copy number variation of individual cattle genomes using next-generation sequencing
-
Bickhart DM, Hou Y, Schroeder SG, Alkan C, Cardone MF, et al. (2012) Copy number variation of individual cattle genomes using next-generation sequencing. Genome Res 22: 778-790.
-
(2012)
Genome Res
, vol.22
, pp. 778-790
-
-
Bickhart, D.M.1
Hou, Y.2
Schroeder, S.G.3
Alkan, C.4
Cardone, M.F.5
-
49
-
-
81055149804
-
Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping
-
Zhan B, Fadista J, Thomsen B, Hedegaard J, Panitz F, et al. (2011) Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping. BMC Genomics 12: 557.
-
(2011)
BMC Genomics
, vol.12
, pp. 557
-
-
Zhan, B.1
Fadista, J.2
Thomsen, B.3
Hedegaard, J.4
Panitz, F.5
-
50
-
-
81055149805
-
Whole genome resequencing of black Angus and Holstein cattle for SNP and CNV discovery
-
Stothard P, Choi JW, Basu U, Sumner-Thomson JM, Meng Y, et al. (2011) Whole genome resequencing of black Angus and Holstein cattle for SNP and CNV discovery. BMC Genomics 12: 559.
-
(2011)
BMC Genomics
, vol.12
, pp. 559
-
-
Stothard, P.1
Choi, J.W.2
Basu, U.3
Sumner-Thomson, J.M.4
Meng, Y.5
-
51
-
-
66249129714
-
Bayesian EM algorithm for scoring polymorphic deletions from SNP data and application to a common CNV on 8q24
-
Zollner S, Su G, Stewart WC, Chen Y, McInnis MG, et al. (2009) Bayesian EM algorithm for scoring polymorphic deletions from SNP data and application to a common CNV on 8q24. Genet Epidemiol 33: 357-368.
-
(2009)
Genet Epidemiol
, vol.33
, pp. 357-368
-
-
Zollner, S.1
Su, G.2
Stewart, W.C.3
Chen, Y.4
McInnis, M.G.5
-
52
-
-
67649289900
-
Copy number variation at 1q21.1 associated with neuroblastoma
-
Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, et al. (2009) Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459: 987-991.
-
(2009)
Nature
, vol.459
, pp. 987-991
-
-
Diskin, S.J.1
Hou, C.2
Glessner, J.T.3
Attiyeh, E.F.4
Laudenslager, M.5
-
53
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, et al. (2011) Mapping copy number variation by population-scale genome sequencing. Nature 470: 59-65.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
-
54
-
-
77955163329
-
mrsFAST: a cache-oblivious algorithm for short-read mapping
-
Hach F, Hormozdiari F, Alkan C, Birol I, Eichler EE, et al. (2010) mrsFAST: a cache-oblivious algorithm for short-read mapping. Nat Methods 7: 576-577.
-
(2010)
Nat Methods
, vol.7
, pp. 576-577
-
-
Hach, F.1
Hormozdiari, F.2
Alkan, C.3
Birol, I.4
Eichler, E.E.5
-
55
-
-
35948984173
-
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
Wang K, Li M, Hadley D, Liu R, Glessner J, et al. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17: 1665-1674.
-
(2007)
Genome Res
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
-
56
-
-
38849183559
-
Sparse representation and Bayesian detection of genome copy number alterations from microarray data
-
Pique-Regi R, Monso-Varona J, Ortega A, Seeger RC, Triche TJ, et al. (2008) Sparse representation and Bayesian detection of genome copy number alterations from microarray data. Bioinformatics 24: 309-318.
-
(2008)
Bioinformatics
, vol.24
, pp. 309-318
-
-
Pique-Regi, R.1
Monso-Varona, J.2
Ortega, A.3
Seeger, R.C.4
Triche, T.J.5
-
57
-
-
31044436017
-
Determination of cytochrome P450 2D6 (CYP2D6) gene copy number by real-time quantitative PCR
-
Bodin L, Beaune PH, Loriot MA, (2005) Determination of cytochrome P450 2D6 (CYP2D6) gene copy number by real-time quantitative PCR. J Biomed Biotechnol 2005: 248-253.
-
(2005)
J Biomed Biotechnol
, vol.2005
, pp. 248-253
-
-
Bodin, L.1
Beaune, P.H.2
Loriot, M.A.3
-
58
-
-
77649232260
-
Accurate and objective copy number profiling using real-time quantitative PCR
-
D'Haene B, Vandesompele J, Hellemans J, (2010) Accurate and objective copy number profiling using real-time quantitative PCR. Methods 50: 262-270.
-
(2010)
Methods
, vol.50
, pp. 262-270
-
-
D'Haene, B.1
Vandesompele, J.2
Hellemans, J.3
-
59
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
-
Livak KJ, Schmittgen TD, (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25: 402-408.
-
(2001)
Methods
, vol.25
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
60
-
-
74949088599
-
The role of copy number variation in schizophrenia
-
Kirov G, (2010) The role of copy number variation in schizophrenia. Expert Rev Neurother 10: 25-32.
-
(2010)
Expert Rev Neurother
, vol.10
, pp. 25-32
-
-
Kirov, G.1
-
61
-
-
4644236043
-
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease
-
Ibanez P, Bonnet AM, Debarges B, Lohmann E, Tison F, et al. (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 364: 1169-1171.
-
(2004)
Lancet
, vol.364
, pp. 1169-1171
-
-
Ibanez, P.1
Bonnet, A.M.2
Debarges, B.3
Lohmann, E.4
Tison, F.5
-
62
-
-
75749135275
-
Copy number variation and missense mutations of the agouti signaling protein (ASIP) gene in goat breeds with different coat colors
-
Fontanesi L, Beretti F, Riggio V, Gomez Gonzalez E, Dall'Olio S, et al. (2009) Copy number variation and missense mutations of the agouti signaling protein (ASIP) gene in goat breeds with different coat colors. Cytogenet Genome Res 126: 333-347.
-
(2009)
Cytogenet Genome Res
, vol.126
, pp. 333-347
-
-
Fontanesi, L.1
Beretti, F.2
Riggio, V.3
Gomez Gonzalez, E.4
Dall'Olio, S.5
-
64
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al. (2010) Origins and functional impact of copy number variation in the human genome. Nature 464: 704-712.
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
-
65
-
-
34347353237
-
Copy-number variation and association studies of human disease
-
McCarroll SA, Altshuler DM, (2007) Copy-number variation and association studies of human disease. Nat Genet 39: S37-42.
-
(2007)
Nat Genet
, vol.39
-
-
McCarroll, S.A.1
Altshuler, D.M.2
-
66
-
-
69249100939
-
Copy number variation and susceptibility to human disorders (Review)
-
Shastry BS, (2009) Copy number variation and susceptibility to human disorders (Review). Mol Med Report 2: 143-147.
-
(2009)
Mol Med Report
, vol.2
, pp. 143-147
-
-
Shastry, B.S.1
-
67
-
-
61449172037
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
-
da Huang W, Sherman BT, Lempicki RA, (2009) Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 4: 44-57.
-
(2009)
Nat Protoc
, vol.4
, pp. 44-57
-
-
da Huang, W.1
Sherman, B.T.2
Lempicki, R.A.3
-
68
-
-
0034069495
-
Gene ontology: tool for the unification of biology. The Gene Ontology Consortium
-
Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, et al. (2000) Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet 25: 25-29.
-
(2000)
Nat Genet
, vol.25
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
-
69
-
-
75549090213
-
KEGG for representation and analysis of molecular networks involving diseases and drugs
-
Kanehisa M, Goto S, Furumichi M, Tanabe M, Hirakawa M, (2010) KEGG for representation and analysis of molecular networks involving diseases and drugs. Nucleic Acids Res 38: D355-360.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Kanehisa, M.1
Goto, S.2
Furumichi, M.3
Tanabe, M.4
Hirakawa, M.5
-
70
-
-
29444441336
-
A high-resolution survey of deletion polymorphism in the human genome
-
Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK, (2006) A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 38: 75-81.
-
(2006)
Nat Genet
, vol.38
, pp. 75-81
-
-
Conrad, D.F.1
Andrews, T.D.2
Carter, N.P.3
Hurles, M.E.4
Pritchard, J.K.5
-
71
-
-
38849101781
-
Significant gene content variation characterizes the genomes of inbred mouse strains
-
Cutler G, Marshall LA, Chin N, Baribault H, Kassner PD, (2007) Significant gene content variation characterizes the genomes of inbred mouse strains. Genome Res 17: 1743-1754.
-
(2007)
Genome Res
, vol.17
, pp. 1743-1754
-
-
Cutler, G.1
Marshall, L.A.2
Chin, N.3
Baribault, H.4
Kassner, P.D.5
-
72
-
-
57149089244
-
High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution
-
Hasin Y, Olender T, Khen M, Gonzaga-Jauregui C, Kim PM, et al. (2008) High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution. PLoS Genet 4: e1000249.
-
(2008)
PLoS Genet
, vol.4
-
-
Hasin, Y.1
Olender, T.2
Khen, M.3
Gonzaga-Jauregui, C.4
Kim, P.M.5
-
73
-
-
48349102999
-
Extensive copy-number variation of the human olfactory receptor gene family
-
Young JM, Endicott RM, Parghi SS, Walker M, Kidd JM, et al. (2008) Extensive copy-number variation of the human olfactory receptor gene family. Am J Hum Genet 83: 228-242.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 228-242
-
-
Young, J.M.1
Endicott, R.M.2
Parghi, S.S.3
Walker, M.4
Kidd, J.M.5
-
74
-
-
77949517864
-
Notch2 signaling sensitizes endothelial cells to apoptosis by negatively regulating the key protective molecule survivin
-
Quillard T, Devalliere J, Chatelais M, Coulon F, Seveno C, et al. (2009) Notch2 signaling sensitizes endothelial cells to apoptosis by negatively regulating the key protective molecule survivin. PLoS One 4: e8244.
-
(2009)
PLoS One
, vol.4
-
-
Quillard, T.1
Devalliere, J.2
Chatelais, M.3
Coulon, F.4
Seveno, C.5
-
75
-
-
70349230969
-
Notch2 signaling promotes biliary epithelial cell fate specification and tubulogenesis during bile duct development in mice
-
Tchorz JS, Kinter J, Muller M, Tornillo L, Heim MH, et al. (2009) Notch2 signaling promotes biliary epithelial cell fate specification and tubulogenesis during bile duct development in mice. Hepatology 50: 871-879.
-
(2009)
Hepatology
, vol.50
, pp. 871-879
-
-
Tchorz, J.S.1
Kinter, J.2
Muller, M.3
Tornillo, L.4
Heim, M.H.5
|