-
1
-
-
34548695707
-
Detecting natural selection in high-altitude human populations
-
Beall CM, (2007) Detecting natural selection in high-altitude human populations. Respir Physiol Neurobiol 158: 161-171.
-
(2007)
Respir Physiol Neurobiol
, vol.158
, pp. 161-171
-
-
Beall, C.M.1
-
2
-
-
75849116319
-
Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau
-
Zhao M, Kong QP, Wang HW, Peng MS, Xie XD, et al. (2009) Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau. Proc Natl Acad Sci U S A 106: 21230-21235.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 21230-21235
-
-
Zhao, M.1
Kong, Q.P.2
Wang, H.W.3
Peng, M.S.4
Xie, X.D.5
-
3
-
-
77954157738
-
Nucleotide polymorphism of the TNF gene cluster in six Chinese populations
-
Zhang Y, Zhang F, Lin H, Shi L, Wang P, et al. (2010) Nucleotide polymorphism of the TNF gene cluster in six Chinese populations. J Hum Genet.
-
(2010)
J Hum Genet
-
-
Zhang, Y.1
Zhang, F.2
Lin, H.3
Shi, L.4
Wang, P.5
-
4
-
-
77952833367
-
Genetic structures of the Tibetans and the Deng people in the Himalayas viewed from autosomal STRs
-
Kang L, Li S, Gupta S, Zhang Y, Liu K, et al. (2010) Genetic structures of the Tibetans and the Deng people in the Himalayas viewed from autosomal STRs. J Hum Genet 55: 270-277.
-
(2010)
J Hum Genet
, vol.55
, pp. 270-277
-
-
Kang, L.1
Li, S.2
Gupta, S.3
Zhang, Y.4
Liu, K.5
-
5
-
-
79952229166
-
On the origin of Tibetans and their genetic basis in adapting high-altitude environments
-
Wang B, Zhang YB, Zhang F, Lin H, Wang X, et al. (2011) On the origin of Tibetans and their genetic basis in adapting high-altitude environments. PLoS One 6: e17002.
-
(2011)
PLoS One
, vol.6
-
-
Wang, B.1
Zhang, Y.B.2
Zhang, F.3
Lin, H.4
Wang, X.5
-
6
-
-
79955601775
-
Prevalence and risk factors of chronic kidney disease: a population study in the Tibetan population
-
Chen W, Liu Q, Wang H, Johnson RJ, Dong X, et al. (2011) Prevalence and risk factors of chronic kidney disease: a population study in the Tibetan population. Nephrol Dial Transplant 26: 1592-1599.
-
(2011)
Nephrol Dial Transplant
, vol.26
, pp. 1592-1599
-
-
Chen, W.1
Liu, Q.2
Wang, H.3
Johnson, R.J.4
Dong, X.5
-
7
-
-
77955052954
-
Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau
-
Buroker NE, Ning XH, Zhou ZN, Li K, Cen WJ, et al. (2010) Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau. Clin Chim Acta 411: 1466-1473.
-
(2010)
Clin Chim Acta
, vol.411
, pp. 1466-1473
-
-
Buroker, N.E.1
Ning, X.H.2
Zhou, Z.N.3
Li, K.4
Cen, W.J.5
-
8
-
-
66349111704
-
Genetic insights into the origins of Tibeto-Burman populations in the Himalayas
-
Gayden T, Mirabal S, Cadenas AM, Lacau H, Simms TM, et al. (2009) Genetic insights into the origins of Tibeto-Burman populations in the Himalayas. J Hum Genet 54: 216-223.
-
(2009)
J Hum Genet
, vol.54
, pp. 216-223
-
-
Gayden, T.1
Mirabal, S.2
Cadenas, A.M.3
Lacau, H.4
Simms, T.M.5
-
9
-
-
77954319663
-
Genetic evidence for high-altitude adaptation in Tibet
-
Simonson TS, Yang Y, Huff CD, Yun H, Qin G, et al. (2010) Genetic evidence for high-altitude adaptation in Tibet. Science 329: 72-75.
-
(2010)
Science
, vol.329
, pp. 72-75
-
-
Simonson, T.S.1
Yang, Y.2
Huff, C.D.3
Yun, H.4
Qin, G.5
-
11
-
-
78649264297
-
De novo rates and selection of large copy number variation
-
Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, et al. (2010) De novo rates and selection of large copy number variation. Genome Res 20: 1469-1481.
-
(2010)
Genome Res
, vol.20
, pp. 1469-1481
-
-
Itsara, A.1
Wu, H.2
Smith, J.D.3
Nickerson, D.A.4
Romieu, I.5
-
12
-
-
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
-
13
-
-
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
-
14
-
-
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
-
15
-
-
77950121267
-
Gene copy number variation and common human disease
-
Fanciulli M, Petretto E, Aitman TJ, (2010) Gene copy number variation and common human disease. Clin Genet 77: 201-213.
-
(2010)
Clin Genet
, vol.77
, pp. 201-213
-
-
Fanciulli, M.1
Petretto, E.2
Aitman, T.J.3
-
16
-
-
77957923276
-
Novel association strategy with copy number variation for identifying new risk Loci of human diseases
-
Chen X, Li X, Wang P, Liu Y, Zhang Z, et al. (2010) Novel association strategy with copy number variation for identifying new risk Loci of human diseases. PLoS One 5: e12185.
-
(2010)
PLoS One
, vol.5
-
-
Chen, X.1
Li, X.2
Wang, P.3
Liu, Y.4
Zhang, Z.5
-
17
-
-
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
-
18
-
-
78149450595
-
Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11
-
Roll P, Sanlaville D, Cillario J, Labalme A, Bruneau N, et al. (2010) Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. PLoS One 5: e13750.
-
(2010)
PLoS One
, vol.5
-
-
Roll, P.1
Sanlaville, D.2
Cillario, J.3
Labalme, A.4
Bruneau, N.5
-
19
-
-
67650735159
-
Genomic copy number variation, human health, and disease
-
Wain LV, Armour JA, Tobin MD, (2009) Genomic copy number variation, human health, and disease. Lancet 374: 340-350.
-
(2009)
Lancet
, vol.374
, pp. 340-350
-
-
Wain, L.V.1
Armour, J.A.2
Tobin, M.D.3
-
20
-
-
77951241029
-
Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations
-
Li J, Yang T, Wang L, Yan H, Zhang Y, et al. (2009) Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations. PLoS One 4: e7958.
-
(2009)
PLoS One
, vol.4
-
-
Li, J.1
Yang, T.2
Wang, L.3
Yan, H.4
Zhang, Y.5
-
21
-
-
65449151949
-
Copy number variation in African Americans
-
McElroy JP, Nelson MR, Caillier SJ, Oksenberg JR, (2009) Copy number variation in African Americans. BMC Genet 10: 15.
-
(2009)
BMC Genet
, vol.10
, pp. 15
-
-
McElroy, J.P.1
Nelson, M.R.2
Caillier, S.J.3
Oksenberg, J.R.4
-
22
-
-
77950673469
-
Copy number variations in East-Asian population and their evolutionary and functional implications
-
Yim SH, Kim TM, Hu HJ, Kim JH, Kim BJ, et al. (2010) Copy number variations in East-Asian population and their evolutionary and functional implications. Hum Mol Genet 19: 1001-1008.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1001-1008
-
-
Yim, S.H.1
Kim, T.M.2
Hu, H.J.3
Kim, J.H.4
Kim, B.J.5
-
23
-
-
70349166718
-
A genome-wide survey of copy number variations in Han Chinese residing in Taiwan
-
Lin CH, Lin YC, Wu JY, Pan WH, Chen YT, et al. (2009) A genome-wide survey of copy number variations in Han Chinese residing in Taiwan. Genomics 94: 241-246.
-
(2009)
Genomics
, vol.94
, pp. 241-246
-
-
Lin, C.H.1
Lin, Y.C.2
Wu, J.Y.3
Pan, W.H.4
Chen, Y.T.5
-
24
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, et al. (2008) Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 40: 1166-1174.
-
(2008)
Nat Genet
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
-
25
-
-
59049096815
-
A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan
-
Lin CH, Li LH, Ho SF, Chuang TP, Wu JY, et al. (2008) A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan. BMC Genet 9: 92.
-
(2008)
BMC Genet
, vol.9
, pp. 92
-
-
Lin, C.H.1
Li, L.H.2
Ho, S.F.3
Chuang, T.P.4
Wu, J.Y.5
-
26
-
-
79954492052
-
Performance assessment of copy number microarray platforms using a spike-in experiment
-
Halper-Stromberg E, Frelin L, Ruczinski I, Scharpf R, Jie C, et al. (2011) Performance assessment of copy number microarray platforms using a spike-in experiment. Bioinformatics 27: 1052-1060.
-
(2011)
Bioinformatics
, vol.27
, pp. 1052-1060
-
-
Halper-Stromberg, E.1
Frelin, L.2
Ruczinski, I.3
Scharpf, R.4
Jie, C.5
-
27
-
-
67651015954
-
The role of geography in human adaptation
-
Coop G, Pickrell JK, Novembre J, Kudaravalli S, Li J, et al. (2009) The role of geography in human adaptation. PLoS Genet 5: e1000500.
-
(2009)
PLoS Genet
, vol.5
-
-
Coop, G.1
Pickrell, J.K.2
Novembre, J.3
Kudaravalli, S.4
Li, J.5
-
28
-
-
39749136156
-
Natural selection has driven population differentiation in modern humans
-
Barreiro LB, Laval G, Quach H, Patin E, Quintana-Murci L, (2008) Natural selection has driven population differentiation in modern humans. Nat Genet 40: 340-345.
-
(2008)
Nat Genet
, vol.40
, pp. 340-345
-
-
Barreiro, L.B.1
Laval, G.2
Quach, H.3
Patin, E.4
Quintana-Murci, L.5
-
29
-
-
61449172037
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
-
Huang da 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
-
30
-
-
80051660868
-
Selective genomic copy number imbalances and probability of recurrence in early-stage breast cancer
-
Thompson PA, Brewster AM, Kim-Anh D, Baladandayuthapani V, Broom BM, et al. (2011) Selective genomic copy number imbalances and probability of recurrence in early-stage breast cancer. PLoS One 6: e23543.
-
(2011)
PLoS One
, vol.6
-
-
Thompson, P.A.1
Brewster, A.M.2
Kim-Anh, D.3
Baladandayuthapani, V.4
Broom, B.M.5
-
31
-
-
77951719393
-
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
-
Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, et al. (2010) Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet 42: 400-405.
-
(2010)
Nat Genet
, vol.42
, pp. 400-405
-
-
Park, H.1
Kim, J.I.2
Ju, Y.S.3
Gokcumen, O.4
Mills, R.E.5
-
32
-
-
1642384431
-
High birth weight is associated with human leukocyte antigen (HLA) DRB1*13 in full-term infants
-
Aroviita P, Partanen J, Sistonen P, Teramo K, Kekomaki R, (2004) High birth weight is associated with human leukocyte antigen (HLA) DRB1*13 in full-term infants. Eur J Immunogenet 31: 21-26.
-
(2004)
Eur J Immunogenet
, vol.31
, pp. 21-26
-
-
Aroviita, P.1
Partanen, J.2
Sistonen, P.3
Teramo, K.4
Kekomaki, R.5
-
33
-
-
2442503690
-
A study of HLA-DR and -DQ alleles in 588 patients and 562 controls confirms that HLA-DRB1*03 is associated with recurrent miscarriage
-
Kruse C, Steffensen R, Varming K, Christiansen OB, (2004) A study of HLA-DR and-DQ alleles in 588 patients and 562 controls confirms that HLA-DRB1*03 is associated with recurrent miscarriage. Hum Reprod 19: 1215-1221.
-
(2004)
Hum Reprod
, vol.19
, pp. 1215-1221
-
-
Kruse, C.1
Steffensen, R.2
Varming, K.3
Christiansen, O.B.4
-
34
-
-
0041914418
-
Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility
-
Tse JY, Wong EY, Cheung AN, O WS, Tam PC, et al. (2003) Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility. Biol Reprod 69: 746-751.
-
(2003)
Biol Reprod
, vol.69
, pp. 746-751
-
-
Tse, J.Y.1
Wong, E.Y.2
Cheung, A.N.3
Tam, P.C.4
-
35
-
-
0029088061
-
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene
-
Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10: 383-393.
-
(1995)
Nat Genet
, vol.10
, pp. 383-393
-
-
Reijo, R.1
Lee, T.Y.2
Salo, P.3
Alagappan, R.4
Brown, L.G.5
-
36
-
-
8744291701
-
Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility
-
Machev N, Saut N, Longepied G, Terriou P, Navarro A, et al. (2004) Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J Med Genet 41: 814-825.
-
(2004)
J Med Genet
, vol.41
, pp. 814-825
-
-
Machev, N.1
Saut, N.2
Longepied, G.3
Terriou, P.4
Navarro, A.5
-
37
-
-
62649088108
-
Population analysis of large copy number variants and hotspots of human genetic disease
-
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, et al. (2009) Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84: 148-161.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 148-161
-
-
Itsara, A.1
Cooper, G.M.2
Baker, C.3
Girirajan, S.4
Li, J.5
-
38
-
-
79952126043
-
Copy number variation and selection during reprogramming to pluripotency
-
Hussein SM, Batada NN, Vuoristo S, Ching RW, Autio R, et al. (2011) Copy number variation and selection during reprogramming to pluripotency. Nature 471: 58-62.
-
(2011)
Nature
, vol.471
, pp. 58-62
-
-
Hussein, S.M.1
Batada, N.N.2
Vuoristo, S.3
Ching, R.W.4
Autio, R.5
-
39
-
-
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
-
40
-
-
79958162661
-
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
-
Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, et al. (2011) Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol 29: 512-520.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 512-520
-
-
Pinto, D.1
Darvishi, K.2
Shi, X.3
Rajan, D.4
Rigler, D.5
-
42
-
-
34347354302
-
Mutational and selective effects on copy-number variants in the human genome
-
Cooper GM, Nickerson DA, Eichler EE, (2007) Mutational and selective effects on copy-number variants in the human genome. Nat Genet 39: S22-29.
-
(2007)
Nat Genet
, vol.39
-
-
Cooper, G.M.1
Nickerson, D.A.2
Eichler, E.E.3
-
43
-
-
84864223346
-
Discusses Lhasa urban district rat damage and the measure of science preventing and controlling shallowly
-
Nuosang Cuojia, Zhaduo, Ouzhu B, STAMNES J, (1998) Discusses Lhasa urban district rat damage and the measure of science preventing and controlling shallowly. J Tibet Univ 24: 5-9.
-
(1998)
J Tibet Univ
, vol.24
, pp. 5-9
-
-
Nuosang Cuojia, Z.1
Ouzhu, B.2
Stamnes, J.3
-
44
-
-
33644809878
-
Sunlight, vitamin D, and the innate immune defenses of the human skin
-
Zasloff M, (2005) Sunlight, vitamin D, and the innate immune defenses of the human skin. J Invest Dermatol 125: xvi-xvii.
-
(2005)
J Invest Dermatol
, vol.125
-
-
Zasloff, M.1
-
45
-
-
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
-
46
-
-
23144464901
-
WebGestalt: an integrated system for exploring gene sets in various biological contexts
-
Zhang B, Kirov S, Snoddy J, (2005) WebGestalt: an integrated system for exploring gene sets in various biological contexts. Nucleic Acids Res 33: W741-748.
-
(2005)
Nucleic Acids Res
, vol.33
-
-
Zhang, B.1
Kirov, S.2
Snoddy, J.3
|