-
1
-
-
79959524146
-
A haplotype map of the human genome
-
The International HapMap Consortium
-
The International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437: 1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
2
-
-
84969213492
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
-
The Welcome Trust Case Control Consortium
-
The Welcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447: 661-678.
-
(2007)
Nature
, vol.447
, pp. 661-678
-
-
-
3
-
-
33745240931
-
A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region
-
Smyth DJ, Cooper JD, Bailey R, Field S, Burren O, et al. (2006) A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet 38: 617-619.
-
(2006)
Nat Genet
, vol.38
, pp. 617-619
-
-
Smyth, D.J.1
Cooper, J.D.2
Bailey, R.3
Field, S.4
Burren, O.5
-
4
-
-
34249888775
-
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
-
Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, et al. (2007) Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316: 1331-1336.
-
(2007)
Science
, vol.316
, pp. 1331-1336
-
-
Saxena, R.1
Voight, B.F.2
Lyssenko, V.3
Burtt, N.P.4
de Bakker, P.I.5
-
5
-
-
34249828965
-
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
-
Steinthorsdottir V, Thorleifsson G, Reynisdottir I, Benediktsson R, Jonsdottir T, et al. (2007) A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet 39: 770-775.
-
(2007)
Nat Genet
, vol.39
, pp. 770-775
-
-
Steinthorsdottir, V.1
Thorleifsson, G.2
Reynisdottir, I.3
Benediktsson, R.4
Jonsdottir, T.5
-
6
-
-
34249885875
-
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
-
Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, et al. (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316: 1341-1345.
-
(2007)
Science
, vol.316
, pp. 1341-1345
-
-
Scott, L.J.1
Mohlke, K.L.2
Bonnycastle, L.L.3
Willer, C.J.4
Li, Y.5
-
7
-
-
33847176604
-
A genome-wide association study identifies novel risk loci for type 2 diabetes
-
Sladek R, Rocheleau G, Rung J, Dina C, Shen L, et al. (2007) A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445: 881-885.
-
(2007)
Nature
, vol.445
, pp. 881-885
-
-
Sladek, R.1
Rocheleau, G.2
Rung, J.3
Dina, C.4
Shen, L.5
-
8
-
-
18744407845
-
Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction
-
Ozaki K, Ohnishi Y, Iida A, Sekine A, Yamada R, et al. (2002) Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet 32: 650-654.
-
(2002)
Nat Genet
, vol.32
, pp. 650-654
-
-
Ozaki, K.1
Ohnishi, Y.2
Iida, A.3
Sekine, A.4
Yamada, R.5
-
9
-
-
34250010480
-
A common variant on chromosome 9p21 affects the risk of myocardial infarction
-
Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, et al. (2007) A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 316: 1491-1493.
-
(2007)
Science
, vol.316
, pp. 1491-1493
-
-
Helgadottir, A.1
Thorleifsson, G.2
Manolescu, A.3
Gretarsdottir, S.4
Blondal, T.5
-
10
-
-
34249996115
-
A common allele on chromosome 9 associated with coronary heart disease
-
McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, et al. (2007) A common allele on chromosome 9 associated with coronary heart disease. Science 316: 1488-1491.
-
(2007)
Science
, vol.316
, pp. 1488-1491
-
-
McPherson, R.1
Pertsemlidis, A.2
Kavaslar, N.3
Stewart, A.4
Roberts, R.5
-
11
-
-
34250006413
-
Genome-wide association study identifies novel breast cancer susceptibility loci
-
Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, et al. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447: 1087-1093.
-
(2007)
Nature
, vol.447
, pp. 1087-1093
-
-
Easton, D.F.1
Pooley, K.A.2
Dunning, A.M.3
Pharoah, P.D.4
Thompson, D.5
-
12
-
-
34250001297
-
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
-
Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, et al. (2007) A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39: 870-874.
-
(2007)
Nat Genet
, vol.39
, pp. 870-874
-
-
Hunter, D.J.1
Kraft, P.2
Jacobs, K.B.3
Cox, D.G.4
Yeager, M.5
-
13
-
-
34250002140
-
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
-
Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, et al. (2007) Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 39: 865-869.
-
(2007)
Nat Genet
, vol.39
, pp. 865-869
-
-
Stacey, S.N.1
Manolescu, A.2
Sulem, P.3
Rafnar, T.4
Gudmundsson, J.5
-
14
-
-
34247563453
-
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
-
Gudmundsson J, Sulem P, Manolescu A, Amundadottir LT, Gudbjartsson D, et al. (2007) Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet 39: 631-637.
-
(2007)
Nat Genet
, vol.39
, pp. 631-637
-
-
Gudmundsson, J.1
Sulem, P.2
Manolescu, A.3
Amundadottir, L.T.4
Gudbjartsson, D.5
-
15
-
-
34247548755
-
Genome-wide association study of prostate cancer identifies a second risk locus at 8q24
-
Yeager M, Orr N, Hayes RB, Jacobs KB, Kraft P, et al. (2007) Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet 39: 645-649.
-
(2007)
Nat Genet
, vol.39
, pp. 645-649
-
-
Yeager, M.1
Orr, N.2
Hayes, R.B.3
Jacobs, K.B.4
Kraft, P.5
-
16
-
-
33845340501
-
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
-
Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, et al. (2006) A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314: 1461-1463.
-
(2006)
Science
, vol.314
, pp. 1461-1463
-
-
Duerr, R.H.1
Taylor, K.D.2
Brant, S.R.3
Rioux, J.D.4
Silverberg, M.S.5
-
17
-
-
34247579326
-
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4
-
Libioulle C, Louis E, Hansoul S, Sandor C, Farnir F, et al. (2007) Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet 3: e58.
-
(2007)
PLoS Genet
, vol.3
-
-
Libioulle, C.1
Louis, E.2
Hansoul, S.3
Sandor, C.4
Farnir, F.5
-
18
-
-
34247554965
-
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
-
Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, et al. (2007) Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 39: 596-604.
-
(2007)
Nat Genet
, vol.39
, pp. 596-604
-
-
Rioux, J.D.1
Xavier, R.J.2
Taylor, K.D.3
Silverberg, M.S.4
Goyette, P.5
-
19
-
-
34347324029
-
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
-
van Heel DA, Franke L, Hunt KA, Gwilliam R, Zhernakova A, et al. (2007) A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet 39: 827-829.
-
(2007)
Nat Genet
, vol.39
, pp. 827-829
-
-
van Heel, D.A.1
Franke, L.2
Hunt, K.A.3
Gwilliam, R.4
Zhernakova, A.5
-
20
-
-
34547216747
-
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma
-
Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, et al. (2007) Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 448: 470-473.
-
(2007)
Nature
, vol.448
, pp. 470-473
-
-
Moffatt, M.F.1
Kabesch, M.2
Liang, L.3
Dixon, A.L.4
Strachan, D.5
-
21
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, et al. (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308: 385-389.
-
(2005)
Science
, vol.308
, pp. 385-389
-
-
Klein, R.J.1
Zeiss, C.2
Chew, E.Y.3
Tsai, J.Y.4
Sackler, R.S.5
-
22
-
-
34547497308
-
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
-
Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, et al. (2007) Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 39: 1000-1006.
-
(2007)
Nat Genet
, vol.39
, pp. 1000-1006
-
-
Winkelmann, J.1
Schormair, B.2
Lichtner, P.3
Ripke, S.4
Xiong, L.5
-
23
-
-
34548299105
-
Risk alleles for multiple sclerosis identified by a genomewide study
-
Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, et al. (2007) Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 357: 851-862.
-
(2007)
N Engl J Med
, vol.357
, pp. 851-862
-
-
Hafler, D.A.1
Compston, A.2
Sawcer, S.3
Lander, E.S.4
Daly, M.J.5
-
24
-
-
27644439141
-
Efficiency and power in genetic association studies
-
de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, et al. (2005) Efficiency and power in genetic association studies. Nat Genet 37: 1217-1223.
-
(2005)
Nat Genet
, vol.37
, pp. 1217-1223
-
-
de Bakker, P.I.1
Yelensky, R.2
Pe'er, I.3
Gabriel, S.B.4
Daly, M.J.5
-
25
-
-
33750471977
-
Transferability of tag SNPs in genetic association studies in multiple populations
-
de Bakker PI, Burtt NP, Graham RR, Guiducci C, Yelensky R, et al. (2006) Transferability of tag SNPs in genetic association studies in multiple populations. Nat Genet 38: 1298-1303.
-
(2006)
Nat Genet
, vol.38
, pp. 1298-1303
-
-
de Bakker, P.I.1
Burtt, N.P.2
Graham, R.R.3
Guiducci, C.4
Yelensky, R.5
-
26
-
-
0037047628
-
Recent segmental duplications in the human genome
-
Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, et al. (2002) Recent segmental duplications in the human genome. Science 297: 1003-1007.
-
(2002)
Science
, vol.297
, pp. 1003-1007
-
-
Bailey, J.A.1
Gu, Z.2
Clark, R.A.3
Reinert, K.4
Samonte, R.V.5
-
27
-
-
0037837485
-
Genomewide detection of segmental duplications and potential assembly errors in the human genome sequence
-
Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, et al. (2003) Genomewide 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
-
28
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, et al. (2001) Initial sequencing and analysis of the human genome. Nature 409: 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
-
29
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, et al. (2001) The sequence of the human genome. Science 291: 1304-1351.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
Li, P.W.4
Mural, R.J.5
-
30
-
-
0007758208
-
Polymorphism of DNA sequence adjacent to human beta-globin structural gene: Relationship to sickle mutation
-
Kan YW, Dozy AM (1978) Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A 75: 5631-5635.
-
(1978)
Proc Natl Acad Sci U S A
, vol.75
, pp. 5631-5635
-
-
Kan, Y.W.1
Dozy, A.M.2
-
31
-
-
0023104845
-
Variable number of tandem repeat (VNTR) markers for human gene mapping
-
Nakamura Y, Leppert M, O'Connell P, Wolff R, Holm T, et al. (1987) Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235: 1616-1622.
-
(1987)
Science
, vol.235
, pp. 1616-1622
-
-
Nakamura, Y.1
Leppert, M.2
O'Connell, P.3
Wolff, R.4
Holm, T.5
-
32
-
-
0024514081
-
A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene
-
Litt M, Luty JA (1989) A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet 44: 397-401.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 397-401
-
-
Litt, M.1
Luty, J.A.2
-
33
-
-
0024582686
-
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
-
Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44: 388-396.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 388-396
-
-
Weber, J.L.1
May, P.E.2
-
34
-
-
33748271469
-
An initial map of insertion and deletion (INDEL) variation in the human genome
-
Mills RE, Luttig CT, Larkins CE, Beauchamp A, Tsui C, et al. (2006) An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res 16: 1182-1190.
-
(2006)
Genome Res
, vol.16
, pp. 1182-1190
-
-
Mills, R.E.1
Luttig, C.T.2
Larkins, C.E.3
Beauchamp, A.4
Tsui, C.5
-
35
-
-
0015593369
-
Polymorphism of human Cband heterochromatin. I. Frequency of variants
-
Craig-Holmes AP, Moore FB, Shaw MW (1973) Polymorphism of human Cband heterochromatin. I. Frequency of variants. Am J Hum Genet 25: 181-192.
-
(1973)
Am J Hum Genet
, vol.25
, pp. 181-192
-
-
Craig-Holmes, A.P.1
Moore, F.B.2
Shaw, M.W.3
-
36
-
-
0023224062
-
A candidate for the cystic fibrosis locus isolated by selection for methylationfree islands
-
Estivill X, Farrall M, Scambler PJ, Bell GM, Hawley KM, et al. (1987) A candidate for the cystic fibrosis locus isolated by selection for methylationfree islands. Nature 326: 840-845.
-
(1987)
Nature
, vol.326
, pp. 840-845
-
-
Estivill, X.1
Farrall, M.2
Scambler, P.J.3
Bell, G.M.4
Hawley, K.M.5
-
37
-
-
0039276808
-
Triplicated alpha-globin loci in humans
-
Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, et al. (1980) Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A 77: 518-521.
-
(1980)
Proc Natl Acad Sci U S A
, vol.77
, pp. 518-521
-
-
Goossens, M.1
Dozy, A.M.2
Embury, S.H.3
Zachariades, Z.4
Hadjiminas, M.G.5
-
38
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al. (2004) Detection of large-scale variation in the human genome. Nat Genet 36: 949-951.
-
(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
-
39
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305: 525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
-
40
-
-
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
-
41
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, et al. (2005) Fine-scale structural variation of the human genome. Nat Genet 37: 727-732.
-
(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
-
42
-
-
33846877205
-
Evidence for large inversion polymorphisms in the human genome from HapMap data
-
Bansal V, Bashir A, Bafna V (2007) Evidence for large inversion polymorphisms in the human genome from HapMap data. Genome Res 17: 219-230.
-
(2007)
Genome Res
, vol.17
, pp. 219-230
-
-
Bansal, V.1
Bashir, A.2
Bafna, V.3
-
43
-
-
33846614650
-
A high-resolution map of segmental DNA copy number variation in the mouse genome
-
doi:10.1371/journal.pgen.0030003
-
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. doi:10.1371/journal.pgen.0030003
-
(2007)
PLoS Genet
, vol.3
-
-
Graubert, T.A.1
Cahan, P.2
Edwin, D.3
Selzer, R.R.4
Richmond, T.A.5
-
44
-
-
4444242992
-
Genomic segmental polymorphisms in inbred mouse strains
-
Li J, Jiang T, Mao JH, Balmain A, Peterson L, et al. (2004) Genomic segmental polymorphisms in inbred mouse strains. Nat Genet 36: 952-954.
-
(2004)
Nat Genet
, vol.36
, pp. 952-954
-
-
Li, J.1
Jiang, T.2
Mao, J.H.3
Balmain, A.4
Peterson, L.5
-
45
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, 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
-
46
-
-
33746513094
-
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
-
Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, et al. (2006) Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 79: 275-290.
-
(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
-
47
-
-
33751340401
-
Genome assembly comparison identifies structural variants in the human genome
-
Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, et al. (2006) Genome assembly comparison identifies structural variants in the human genome. Nat Genet 38: 1413-1418.
-
(2006)
Nat Genet
, vol.38
, pp. 1413-1418
-
-
Khaja, R.1
Zhang, J.2
MacDonald, J.R.3
He, Y.4
Joseph-George, A.M.5
-
48
-
-
33846006596
-
A comprehensive analysis of common copy-number variations in the human genome
-
Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, 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
-
49
-
-
33846531959
-
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
-
Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, et al. (2007) Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 16: 1-14.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1-14
-
-
Simon-Sanchez, J.1
Scholz, S.2
Fung, H.C.3
Matarin, M.4
Hernandez, D.5
-
50
-
-
29444450702
-
Common deletions and SNPs are in linkage disequilibrium in the human genome
-
Hinds DA, Kloek AP, Jen M, Chen X, Frazer KA (2006) Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat Genet 38: 82-85.
-
(2006)
Nat Genet
, vol.38
, pp. 82-85
-
-
Hinds, D.A.1
Kloek, A.P.2
Jen, M.3
Chen, X.4
Frazer, K.A.5
-
51
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, 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
-
52
-
-
33750444621
-
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
-
Conrad DF, Jakobsson M, Coop G, Wen X, Wall JD, et al. (2006) A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nat Genet 38: 1251-1260.
-
(2006)
Nat Genet
, vol.38
, pp. 1251-1260
-
-
Conrad, D.F.1
Jakobsson, M.2
Coop, G.3
Wen, X.4
Wall, J.D.5
-
53
-
-
34347348166
-
Challenges and standards in integrating surveys of structural variation
-
Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, et al. (2007) Challenges and standards in integrating surveys of structural variation. Nat Genet 39: S7-S15.
-
(2007)
Nat Genet
, vol.39
-
-
Scherer, S.W.1
Lee, C.2
Birney, E.3
Altshuler, D.M.4
Eichler, E.E.5
-
54
-
-
34248525150
-
Completing the map of human genetic variation
-
Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, et al. (2007) Completing the map of human genetic variation. Nature 447: 161-165.
-
(2007)
Nature
, vol.447
, pp. 161-165
-
-
Eichler, E.E.1
Nickerson, D.A.2
Altshuler, D.3
Bowcock, A.M.4
Brooks, L.D.5
-
55
-
-
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
-
56
-
-
4644290985
-
Alpha-synuclein locus duplication as a cause of familial Parkinson's disease
-
Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, et al. (2004) Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364: 1167-1169.
-
(2004)
Lancet
, vol.364
, pp. 1167-1169
-
-
Chartier-Harlin, M.C.1
Kachergus, J.2
Roumier, C.3
Mouroux, V.4
Douay, X.5
-
57
-
-
0242300619
-
alpha-Synuclein locus triplication causes Parkinson's disease
-
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, et al. (2003) alpha-Synuclein locus triplication causes Parkinson's disease. Science 302: 841.
-
(2003)
Science
, vol.302
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
Singleton, A.4
Hague, S.5
-
58
-
-
33750579333
-
-
Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, et al. (2006) APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain 129: 2977-2983.
-
Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, et al. (2006) APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain 129: 2977-2983.
-
-
-
-
59
-
-
29444442794
-
-
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, et al. (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38: 24-26.
-
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, et al. (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38: 24-26.
-
-
-
-
60
-
-
33749066060
-
Phenotype associated with APP duplication in five families
-
Cabrejo L, Guyant-Marechal L, Laquerriere A, Vercelletto M, De la Fourniere F, et al. (2006) Phenotype associated with APP duplication in five families. Brain 129: 2966-2976.
-
(2006)
Brain
, vol.129
, pp. 2966-2976
-
-
Cabrejo, L.1
Guyant-Marechal, L.2
Laquerriere, A.3
Vercelletto, M.4
De la Fourniere, F.5
-
61
-
-
33751546259
-
Hereditary pancreatitis caused by triplication of the trypsinogen locus
-
Le Marechal C, Masson E, Chen JM, Morel F, Ruszniewski P, et al. (2006) Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet 38: 1372-1374.
-
(2006)
Nat Genet
, vol.38
, pp. 1372-1374
-
-
Le Marechal, C.1
Masson, E.2
Chen, J.M.3
Morel, F.4
Ruszniewski, P.5
-
62
-
-
0032727412
-
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions
-
Lopez Correa C, Brems H, Lazaro C, Estivill X, Clementi M, et al. (1999) Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Hum Mutat 14: 387-393.
-
(1999)
Hum Mutat
, vol.14
, pp. 387-393
-
-
Lopez Correa, C.1
Brems, H.2
Lazaro, C.3
Estivill, X.4
Clementi, M.5
-
63
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, et al. (2005) The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307: 1434-1440.
-
(2005)
Science
, vol.307
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
-
64
-
-
39549091294
-
-
E-pub ahead of print. doi: 10.1136/ard.2007.075028
-
McKinney C, Merriman ME, Chapman PT, Gow PJ, Harrison AA, et al. (2007) Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann Rheum Dis. E-pub ahead of print. doi: 10.1136/ard.2007.075028
-
(2007)
Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann Rheum Dis
-
-
McKinney, C.1
Merriman, M.E.2
Chapman, P.T.3
Gow, P.J.4
Harrison, A.A.5
-
65
-
-
32844460938
-
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
-
Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, et al. (2006) Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439: 851-855.
-
(2006)
Nature
, vol.439
, pp. 851-855
-
-
Aitman, T.J.1
Dong, R.2
Vyse, T.J.3
Norsworthy, P.J.4
Johnson, M.D.5
-
66
-
-
34249815834
-
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
-
Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, et al. (2007) FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 39: 721-723.
-
(2007)
Nat Genet
, vol.39
, pp. 721-723
-
-
Fanciulli, M.1
Norsworthy, P.J.2
Petretto, E.3
Dong, R.4
Harper, L.5
-
67
-
-
1442288762
-
The intricate role of complement component C4 in human systemic lupus erythematosus
-
Yang Y, Chung EK, Zhou B, Lhotta K, Hebert LA, et al. (2004) The intricate role of complement component C4 in human systemic lupus erythematosus. Curr Dir Autoimmun 7: 98-132.
-
(2004)
Curr Dir Autoimmun
, vol.7
, pp. 98-132
-
-
Yang, Y.1
Chung, E.K.2
Zhou, B.3
Lhotta, K.4
Hebert, L.A.5
-
68
-
-
34250841166
-
Gene copynumber 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 EK, Wu YL, Savelli SL, Nagaraja HN, et al. (2007) Gene copynumber 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: 1037-1054.
-
(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
-
69
-
-
0036780616
-
Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex
-
Chung EK, Yang Y, Rennebohm RM, Lokki ML, Higgins GC, et al. (2002) 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 71: 823-837.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 823-837
-
-
Chung, E.K.1
Yang, Y.2
Rennebohm, R.M.3
Lokki, M.L.4
Higgins, G.C.5
-
70
-
-
0036782903
-
Determining the one, two, three, or four long and short loci of human complement C4 in a major histocompatibility complex haplotype encoding C4A or C4B proteins
-
Chung EK, Yang Y, Rupert KL, Jones KN, Rennebohm RM, et al. (2002) Determining the one, two, three, or four long and short loci of human complement C4 in a major histocompatibility complex haplotype encoding C4A or C4B proteins. Am J Hum Genet 71: 810-822.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 810-822
-
-
Chung, E.K.1
Yang, Y.2
Rupert, K.L.3
Jones, K.N.4
Rennebohm, R.M.5
-
71
-
-
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 DE, Schaeffeler E, Schmalzl H, Wehkamp J, 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: 439-448.
-
(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
-
72
-
-
34247367138
-
Increase in GSK3beta gene copy number variation in bipolar disorder
-
Lachman HM, Pedrosa E, Petruolo OA, Cockerham M, Papolos A, et al. (2007) Increase in GSK3beta gene copy number variation in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 144: 259-265.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144
, pp. 259-265
-
-
Lachman, H.M.1
Pedrosa, E.2
Petruolo, O.A.3
Cockerham, M.4
Papolos, A.5
-
73
-
-
34447106707
-
BRIP1 (BACH1) variants and familial breast cancer risk: A case-control study
-
Frank B, Hemminki K, Meindl A, Wappenschmidt B, Sutter C, et al. (2007) BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. BMC Cancer 7: 83.
-
(2007)
BMC Cancer
, vol.7
, pp. 83
-
-
Frank, B.1
Hemminki, K.2
Meindl, A.3
Wappenschmidt, B.4
Sutter, C.5
-
74
-
-
34447569298
-
Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability
-
Beckmann JS, Estivill X, Antonarakis SE (2007) Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet 8: 639-646.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 639-646
-
-
Beckmann, J.S.1
Estivill, X.2
Antonarakis, S.E.3
-
75
-
-
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
-
76
-
-
0037101840
-
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome
-
Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, et al. (2002) Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. Hum Mol Genet 11: 1987-1995.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1987-1995
-
-
Estivill, X.1
Cheung, J.2
Pujana, M.A.3
Nakabayashi, K.4
Scherer, S.W.5
-
77
-
-
34347339520
-
Methods and strategies for analyzing copy number variation using DNA microarrays
-
Carter NP (2007) Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 39: S16-S21.
-
(2007)
Nat Genet
, vol.39
-
-
Carter, N.P.1
-
78
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al. (2007) Strong association of de novo copy number mutations with autism. Science 316: 445-449.
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
-
79
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, et al. (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39: 319-328.
-
(2007)
Nat Genet
, vol.39
, pp. 319-328
-
-
Szatmari, P.1
Paterson, A.D.2
Zwaigenbaum, L.3
Roberts, W.4
Brian, J.5
-
81
-
-
33847390726
-
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
-
doi:10.1093/nar/ gkl1089
-
Armour JA, Palla R, Zeeuwen PL, den Heijer M, Schalkwijk J, et al. (2007) Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res 35: e19. doi:10.1093/nar/ gkl1089
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Armour, J.A.1
Palla, R.2
Zeeuwen, P.L.3
den Heijer, M.4
Schalkwijk, J.5
-
82
-
-
34848916950
-
Gene copy number variation in schizophrenia
-
doi:10.1016/j.schres.2007.07.029
-
Sutrala SR, Goossens D, Williams NM, Heyrman L, Adolfsson R, et al. (2007) Gene copy number variation in schizophrenia. Schizophr Res. doi:10.1016/j.schres.2007.07.029
-
(2007)
Schizophr Res
-
-
Sutrala, S.R.1
Goossens, D.2
Williams, N.M.3
Heyrman, L.4
Adolfsson, R.5
|