-
1
-
-
79953057255
-
Integration of genetic and immunological insights into a model of celiac disease pathogenesis
-
Abadie V., Sollid LM, Barreiro LB, Jabri B. 2011. Integration of genetic and immunological insights into a model of celiac disease pathogenesis. Annu Rev Immunol 29: 493-525.
-
(2011)
Annu Rev Immunol
, vol.29
, pp. 493-525
-
-
Abadie, V.1
Sollid, L.M.2
Barreiro, L.B.3
Jabri, B.4
-
2
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei I.A., Schmidt S, Peshkin L, Ramensky VE, Gerasimova A., Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
3
-
-
65149103048
-
Constructing genomic maps of positive selection in humans:Where dowe go from here?
-
Akey JM. 2009. Constructing genomic maps of positive selection in humans:Where dowe go from here? Genome Res 19: 711-722.
-
(2009)
Genome Res
, vol.19
, pp. 711-722
-
-
Akey, J.M.1
-
4
-
-
77049164783
-
Protection afforded by sickle-cell trait against subtertian malareal infection
-
Allison AC. 1954. Protection afforded by sickle-cell trait against subtertian malareal infection. Br Med J 1: 290-294.
-
(1954)
Br Med J
, vol.1
, pp. 290-294
-
-
Allison, A.C.1
-
5
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
Altshuler D.M., Gibbs RA, Peltonen L, Dermitzakis E, Schaffner S.F., Yu F, Bonnen PE, de Bakker PI, Deloukas P., Gabriel SB, et al. 2010. Integrating common and rare genetic variation in diverse human populations. Nature 467: 52-58.
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
Altshuler, D.M.1
Gibbs, R.A.2
Peltonen, L.3
Dermitzakis, E.4
Schaffner, S.F.5
Yu, F.6
Bonnen, P.E.7
de Bakker, P.I.8
Deloukas, P.9
Gabriel, S.B.10
-
6
-
-
70450228580
-
Targets of balancing selection in the human genome
-
Andres A.M., Hubisz MJ, Indap A, Torgerson DG, Degenhardt J.D., Boyko AR, Gutenkunst RN, White TJ, Bustamante C.D., Clark AG, et al. 2009. Targets of balancing selection in the human genome. Mol Biol Evol 26: 2755-2764.
-
(2009)
Mol Biol Evol
, vol.26
, pp. 2755-2764
-
-
Andres, A.M.1
Hubisz, M.J.2
Indap, A.3
Torgerson, D.G.4
Degenhardt, J.D.5
Boyko, A.R.6
Gutenkunst, R.N.7
White, T.J.8
Bustamante, C.D.9
Clark, A.G.10
-
7
-
-
0036787307
-
Beyond Mendel: An evolving view of human genetic disease transmission
-
Badano J.L., Katsanis N. 2002. Beyond Mendel: An evolving view of human genetic disease transmission. Nat Rev Genet 3: 779-789.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 779-789
-
-
Badano, J.L.1
Katsanis, N.2
-
8
-
-
72849122933
-
From evolutionary genetics to human immunology: How selection shapes host defence genes
-
Barreiro L.B., Quintana-Murci L. 2010. From evolutionary genetics to human immunology: How selection shapes host defence genes. Nat Rev Genet 11: 17-30.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 17-30
-
-
Barreiro, L.B.1
Quintana-Murci, L.2
-
9
-
-
39749136156
-
Natural selection has driven population differentiation in modern humans
-
Barreiro L.B., 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
-
10
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
Bodmer W., Bonilla C. 2008. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40: 695-701.
-
(2008)
Nat Genet
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
11
-
-
78649772960
-
Whole-exome-sequencing-based discovery of human FADD deficiency
-
Bolze A., Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L., Puel A, Bacon CM, Rieux-Laucat F, Pang K., et al. 2010. Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet 87: 873-881.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 873-881
-
-
Bolze, A.1
Byun, M.2
McDonald, D.3
Morgan, N.V.4
Abhyankar, A.5
Premkumar, L.6
Puel, A.7
Bacon, C.M.8
Rieux-Laucat, F.9
Pang, K.10
-
12
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
Botstein D., Risch N. 2003. Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease. Nat Genet 33: 228-237.
-
(2003)
Nat Genet
, vol.33
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
13
-
-
78149325696
-
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
-
Byun M., Abhyankar A, Lelarge V, Plancoulaine S, Palanduz A, Telhan L, Boisson B, Picard C, Dewell S, Zhao C., et al. 2010. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med 207: 2307-2312.
-
(2010)
J Exp Med
, vol.207
, pp. 2307-2312
-
-
Byun, M.1
Abhyankar, A.2
Lelarge, V.3
Plancoulaine, S.4
Palanduz, A.5
Telhan, L.6
Boisson, B.7
Picard, C.8
Dewell, S.9
Zhao, C.10
-
14
-
-
54149112918
-
The signature of long-standing balancing selection at the human defensin β-1 promoter
-
Cagliani R., Fumagalli M, Riva S, Pozzoli U, Comi GP, Menozzi G., Bresolin N, Sironi M. 2008. The signature of long-standing balancing selection at the human defensin β-1 promoter. Genome Biol 9: R143.
-
(2008)
Genome Biol
, vol.9
-
-
Cagliani, R.1
Fumagalli, M.2
Riva, S.3
Pozzoli, U.4
Comi, G.P.5
Menozzi, G.6
Bresolin, N.7
Sironi, M.8
-
15
-
-
52949093871
-
African genetic diversity: Implications for human demographic history, modern human origins, and complex disease mapping
-
Campbell M.C., Tishkoff SA. 2008. African genetic diversity: Implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet 9: 403-433.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 403-433
-
-
Campbell, M.C.1
Tishkoff, S.A.2
-
16
-
-
22944461763
-
Inborn errors of immunity to infection: The rule rather than the exception
-
Casanova J.L., Abel L. 2005. Inborn errors of immunity to infection: The rule rather than the exception. J Exp Med 202: 197-201.
-
(2005)
J Exp Med
, vol.202
, pp. 197-201
-
-
Casanova, J.L.1
Abel, L.2
-
17
-
-
33847209550
-
Human genetics of infectious diseases: A unified theory
-
Casanova J.L., Abel L. 2007. Human genetics of infectious diseases: A unified theory. EMBO J 26: 915-922.
-
(2007)
EMBO J
, vol.26
, pp. 915-922
-
-
Casanova, J.L.1
Abel, L.2
-
18
-
-
0037370384
-
The application of molecular genetic approaches to the study of human evolution
-
Cavalli-Sforza LL, Feldman MW. 2003. The application of molecular genetic approaches to the study of human evolution. Nat Genet 33: 266-275.
-
(2003)
Nat Genet
, vol.33
, pp. 266-275
-
-
Cavalli-Sforza, L.L.1
Feldman, M.W.2
-
19
-
-
37648999313
-
Distinguishing protein-coding and noncoding genes in the human genome
-
Clamp M., Fry B, Kamal M, Xie X, Cuff J, Lin MF, Kellis M, Lindblad-Toh K, Lander ES. 2007. Distinguishing protein-coding and noncoding genes in the human genome. Proc Natl Acad Sci 104: 19428-19433.
-
(2007)
Proc Natl Acad Sci
, vol.104
, pp. 19428-19433
-
-
Clamp, M.1
Fry, B.2
Kamal, M.3
Xie, X.4
Cuff, J.5
Lin, M.F.6
Kellis, M.7
Lindblad-Toh, K.8
Lander, E.S.9
-
20
-
-
29444441336
-
A high-resolution survey of deletion polymorphism in the human genome
-
Conrad D.F., Andrews TD, Carter NP, Hurles ME, Pritchard JK. 2006a. 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
-
21
-
-
33750444621
-
Aworldwide survey of haplotype variation and linkage disequilibrium in the human genome
-
Conrad D.F., Jakobsson M, Coop G, Wen X, Wall JD, Rosenberg N.A., Pritchard JK. 2006b. Aworldwide 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
Rosenberg, N.A.6
Pritchard, J.K.7
-
22
-
-
77956642099
-
Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease
-
Davila S., Wright VJ, Khor CC, Sim KS, Binder A, Breunis W.B., Inwald D, Nadel S, Betts H, de Groot R, et al. 2010. Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. Nat Genet 42: 772-776.
-
(2010)
Nat Genet
, vol.42
, pp. 772-776
-
-
Davila, S.1
Wright, V.J.2
Khor, C.C.3
Sim, K.S.4
Binder, A.5
Breunis, W.B.6
Inwald, D.7
Nadel, S.8
Betts, H.9
de Groot, R.10
-
23
-
-
77249134594
-
Rare variants create synthetic genome-wide associations
-
Dickson S.P., Wang K, Krantz I, Hakonarson H, GoldsteinDB. 2010. Rare variants create synthetic genome-wide associations. PLoS Biol 8: e1000294.
-
(2010)
PLoS Biol
, vol.8
-
-
Dickson, S.P.1
Wang, K.2
Krantz, I.3
Hakonarson, H.4
Goldstein, D.B.5
-
24
-
-
36749047447
-
Statistical evaluation of alternative models of human evolution
-
Fagundes N.J., Ray N, Beaumont M, Neuenschwander S, Salzano F.M., Bonatto SL, Excoffier L. 2007. Statistical evaluation of alternative models of human evolution. Proc Natl Acad Sci 104: 17614-17619.
-
(2007)
Proc Natl Acad Sci
, vol.104
, pp. 17614-17619
-
-
Fagundes, N.J.1
Ray, N.2
Beaumont, M.3
Neuenschwander, S.4
Salzano, F.M.5
Bonatto, S.L.6
Excoffier, L.7
-
25
-
-
34548134145
-
A whole-genome association study of major determinants for host control of HIV-1
-
Fellay J., Shianna KV, Ge D, Colombo S, Ledergerber B, Weale M., Zhang K, Gumbs C, Castagna A, Cossarizza A, et al. 2007. A whole-genome association study of major determinants for host control of HIV-1. Science 317: 944-947.
-
(2007)
Science
, vol.317
, pp. 944-947
-
-
Fellay, J.1
Shianna, K.V.2
Ge, D.3
Colombo, S.4
Ledergerber, B.5
Weale, M.6
Zhang, K.7
Gumbs, C.8
Castagna, A.9
Cossarizza, A.10
-
26
-
-
74249086566
-
Common genetic variation and the control of HIV-1 in humans
-
Fellay J., Ge D, Shianna KV, Colombo S, Ledergerber B, Cirulli E.T., Urban TJ, Zhang K, Gumbs CE, Smith JP, et al. 2009. Common genetic variation and the control of HIV-1 in humans. PLoS Genet 5: e1000791.
-
(2009)
PLoS Genet
, vol.5
-
-
Fellay, J.1
Ge, D.2
Shianna, K.V.3
Colombo, S.4
Ledergerber, B.5
Cirulli, E.T.6
Urban, T.J.7
Zhang, K.8
Gumbs, C.E.9
Smith, J.P.10
-
27
-
-
77949773445
-
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C
-
Fellay J., Thompson AJ, Ge D, Gumbs CE, Urban TJ, Shianna K.V., Little LD, Qiu P, Bertelsen AH, Watson M, et al. 2010. ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature 464: 405-408.
-
(2010)
Nature
, vol.464
, pp. 405-408
-
-
Fellay, J.1
Thompson, A.J.2
Ge, D.3
Gumbs, C.E.4
Urban, T.J.5
Shianna, K.V.6
Little, L.D.7
Qiu, P.8
Bertelsen, A.H.9
Watson, M.10
-
28
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
Frazer K.A., Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs R.A., Belmont JW, Boudreau A, Hardenbol P, Leal S.M., et al. 2007. A second generation human haplotype map of over 3.1 million SNPs. Nature 449: 851-861.
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Frazer, K.A.1
Ballinger, D.G.2
Cox, D.R.3
Hinds, D.A.4
Stuve, L.L.5
Gibbs, R.A.6
Belmont, J.W.7
Boudreau, A.8
Hardenbol, P.9
Leal, S.M.10
-
29
-
-
59949095839
-
Widespread balancing selection and pathogen-driven selection at blood group antigen genes
-
Fumagalli M., Cagliani R, Pozzoli U, Riva S, Comi GP, Menozzi G., Bresolin N, Sironi M. 2009a. Widespread balancing selection and pathogen-driven selection at blood group antigen genes. Genome Res 19: 199-212.
-
(2009)
Genome Res
, vol.19
, pp. 199-212
-
-
Fumagalli, M.1
Cagliani, R.2
Pozzoli, U.3
Riva, S.4
Comi, G.P.5
Menozzi, G.6
Bresolin, N.7
Sironi, M.8
-
30
-
-
67449110978
-
Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions
-
Fumagalli M., Pozzoli U, Cagliani R, Comi GP, Riva S, Clerici M., Bresolin N, Sironi M. 2009b. Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions. J Exp Med 206: 1395-1408.
-
(2009)
J Exp Med
, vol.206
, pp. 1395-1408
-
-
Fumagalli, M.1
Pozzoli, U.2
Cagliani, R.3
Comi, G.P.4
Riva, S.5
Clerici, M.6
Bresolin, N.7
Sironi, M.8
-
31
-
-
70349292099
-
Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance
-
Ge D., Fellay J, Thompson AJ, Simon JS, Shianna KV, Urban T.J., Heinzen EL, Qiu P, Bertelsen AH, Muir AJ, et al. 2009. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature 461: 399-401.
-
(2009)
Nature
, vol.461
, pp. 399-401
-
-
Ge, D.1
Fellay, J.2
Thompson, A.J.3
Simon, J.S.4
Shianna, K.V.5
Urban, T.J.6
Heinzen, E.L.7
Qiu, P.8
Bertelsen, A.H.9
Muir, A.J.10
-
32
-
-
70349973749
-
Characterizing natural variation using next-generation sequencing technologies
-
Gilad Y., Pritchard JK, Thornton K. 2009. Characterizing natural variation using next-generation sequencing technologies. Trends Genet 25: 463-471.
-
(2009)
Trends Genet
, vol.25
, pp. 463-471
-
-
Gilad, Y.1
Pritchard, J.K.2
Thornton, K.3
-
33
-
-
79961091828
-
Demographic history and rare allele sharing among human populations
-
Gravel S., Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark A.G., Yu F, Gibbs RA, Bustamante CD. 2011. Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci 108: 11983-11988.
-
(2011)
Proc Natl Acad Sci
, vol.108
, pp. 11983-11988
-
-
Gravel, S.1
Henn, B.M.2
Gutenkunst, R.N.3
Indap, A.R.4
Marth, G.T.5
Clark, A.G.6
Yu, F.7
Gibbs, R.A.8
Bustamante, C.D.9
-
34
-
-
79955572378
-
Adaptations to climate-mediated selective pressures in humans
-
Hancock A.M., Witonsky DB, Alkorta-Aranburu G, Beall CM, Gebremedhin A, Sukernik R, Utermann G, Pritchard J.K., Coop G, Di Rienzo A. 2011. Adaptations to climate-mediated selective pressures in humans. PLoS Genet 7: e1001375.
-
(2011)
PLoS Genet
, vol.7
-
-
Hancock, A.M.1
Witonsky, D.B.2
Alkorta-Aranburu, G.3
Beall, C.M.4
Gebremedhin, A.5
Sukernik, R.6
Utermann, G.7
Pritchard, J.K.8
Coop, G.9
di Rienzo, A.10
-
35
-
-
33845631591
-
Aspects of genetic susceptibility to human infectious diseases
-
Hill AV. 2006. Aspects of genetic susceptibility to human infectious diseases. Annu Rev Genet 40: 469-486.
-
(2006)
Annu Rev Genet
, vol.40
, pp. 469-486
-
-
Hill, A.V.1
-
36
-
-
0034619822
-
Mitochondrial genome variation and the origin of modern humans
-
Ingman M., Kaessmann H, Paabo S, Gyllensten U. 2000. Mitochondrial genome variation and the origin of modern humans. Nature 408: 708-713.
-
(2000)
Nature
, vol.408
, pp. 708-713
-
-
Ingman, M.1
Kaessmann, H.2
Paabo, S.3
Gyllensten, U.4
-
37
-
-
67349278465
-
Genome-wide and fine-resolution association analysis of malaria in West Africa
-
Jallow M., Teo YY, Small KS, Rockett KA, Deloukas P, Clark T.G., Kivinen K, Bojang KA, Conway DJ, Pinder M, et al. 2009. Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet 41: 657-665.
-
(2009)
Nat Genet
, vol.41
, pp. 657-665
-
-
Jallow, M.1
Teo, Y.Y.2
Small, K.S.3
Rockett, K.A.4
Deloukas, P.5
Clark, T.G.6
Kivinen, K.7
Bojang, K.A.8
Conway, D.J.9
Pinder, M.10
-
38
-
-
67349160018
-
A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians
-
Kamatani Y., Wattanapokayakit S, Ochi H, Kawaguchi T, Takahashi A., Hosono N, Kubo M, Tsunoda T, Kamatani N, Kumada H, et al. 2009. A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians. Nat Genet 41: 591-595.
-
(2009)
Nat Genet
, vol.41
, pp. 591-595
-
-
Kamatani, Y.1
Wattanapokayakit, S.2
Ochi, H.3
Kawaguchi, T.4
Takahashi, A.5
Hosono, N.6
Kubo, M.7
Tsunoda, T.8
Kamatani, N.9
Kumada, H.10
-
39
-
-
84866735000
-
Genome-wide genetic associations with IFNγ response to smallpox vaccine
-
Kennedy R.B., Ovsyannikova IG, Pankratz VS, Haralambieva IH, Vierkant RA, Jacobson RM, Poland GA. 2012a. Genome-wide genetic associations with IFNγ response to smallpox vaccine. Human Genet 131: 1433-1451.
-
(2012)
Human Genet
, vol.131
, pp. 1433-1451
-
-
Kennedy, R.B.1
Ovsyannikova, I.G.2
Pankratz, V.S.3
Haralambieva, I.H.4
Vierkant, R.A.5
Jacobson, R.M.6
Poland, G.A.7
-
40
-
-
84866739066
-
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients
-
Kennedy R.B., Ovsyannikova IG, Shane Pankratz V, Haralambieva IH, Vierkant RA, Poland GA. 2012b. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. Human Genet 131: 1403-1421.
-
(2012)
Human Genet
, vol.131
, pp. 1403-1421
-
-
Kennedy, R.B.1
Ovsyannikova, I.G.2
Shane Pankratz, V.3
Haralambieva, I.H.4
Vierkant, R.A.5
Poland, G.A.6
-
41
-
-
79953825909
-
Revisiting Mendelian disorders through exome sequencing
-
Ku C.S., Naidoo N, Pawitan Y. 2011. Revisiting Mendelian disorders through exome sequencing. Hum Genet 129: 351-370.
-
(2011)
Hum Genet
, vol.129
, pp. 351-370
-
-
Ku, C.S.1
Naidoo, N.2
Pawitan, Y.3
-
42
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander E.S., Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J., Devon K, Dewar K, Doyle M, FitzHugh W, 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
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
FitzHugh, W.10
-
43
-
-
77956419544
-
Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regions
-
Laval G., Patin E, Barreiro LB, Quintana-Murci L. 2010. Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regions. PLoS ONE 5: e10284.
-
(2010)
PLoS ONE
, vol.5
-
-
Laval, G.1
Patin, E.2
Barreiro, L.B.3
Quintana-Murci, L.4
-
44
-
-
39749181521
-
Worldwide human relationships inferred from genome-wide patterns of variation
-
Li J.Z., Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S., Cann HM, Barsh GS, Feldman M, Cavalli-Sforza L.L., et al. 2008. Worldwide human relationships inferred from genome-wide patterns of variation. Science 319: 1100-1104.
-
(2008)
Science
, vol.319
, pp. 1100-1104
-
-
Li, J.Z.1
Absher, D.M.2
Tang, H.3
Southwick, A.M.4
Casto, A.M.5
Ramachandran, S.6
Cann, H.M.7
Barsh, G.S.8
Feldman, M.9
Cavalli-Sforza, L.L.10
-
45
-
-
79961154447
-
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
-
Liu L., Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, et al. 2011. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 208: 1635-1648.
-
(2011)
J Exp Med
, vol.208
, pp. 1635-1648
-
-
Liu, L.1
Okada, S.2
Kong, X.F.3
Kreins, A.Y.4
Cypowyj, S.5
Abhyankar, A.6
Toubiana, J.7
Itan, Y.8
Audry, M.9
Nitschke, P.10
-
46
-
-
39749139577
-
Proportionally more deleterious genetic variation in European than in African populations
-
Lohmueller K.E., Indap AR, Schmidt S, Boyko AR, Hernandez RD, Hubisz MJ, Sninsky JJ, White TJ, Sunyaev S.R., Nielsen R, et al. 2008. Proportionally more deleterious genetic variation in European than in African populations. Nature 451: 994-997.
-
(2008)
Nature
, vol.451
, pp. 994-997
-
-
Lohmueller, K.E.1
Indap, A.R.2
Schmidt, S.3
Boyko, A.R.4
Hernandez, R.D.5
Hubisz, M.J.6
Sninsky, J.J.7
White, T.J.8
Sunyaev, S.R.9
Nielsen, R.10
-
47
-
-
84862880135
-
Genome-wide association studies of tuberculosis in Asians identify distinct at-risk locus for young tuberculosis
-
Mahasirimongkol S., Yanai H, Mushiroda T, Promphittayarat W, Wattanapokayakit S, Phromjai J, Yuliwulandari R, Wichukchinda N, Yowang A, Yamada N, et al. 2012. Genome-wide association studies of tuberculosis in Asians identify distinct at-risk locus for young tuberculosis. J Hum Genet 57: 363-367.
-
(2012)
J Hum Genet
, vol.57
, pp. 363-367
-
-
Mahasirimongkol, S.1
Yanai, H.2
Mushiroda, T.3
Promphittayarat, W.4
Wattanapokayakit, S.5
Phromjai, J.6
Yuliwulandari, R.7
Wichukchinda, N.8
Yowang, A.9
Yamada, N.10
-
48
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio T.A., Collins FS, Cox NJ, GoldsteinDB, Hindorff LA, Hunter D.J., McCarthy MI, Ramos EM, Cardon LR, Chakravarti A., et al. 2009. Finding the missing heritability of complex diseases. Nature 461: 747-753.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
McCarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
-
49
-
-
84855484381
-
Evolutionary genetic dissection of human interferons
-
Manry J., Laval G, Patin E, Fornarino S, Itan Y, Fumagalli M, Sironi M., Tichit M, Bouchier C, Casanova JL, et al. 2011. Evolutionary genetic dissection of human interferons. J Exp Med 208: 2747-2759.
-
(2011)
J Exp Med
, vol.208
, pp. 2747-2759
-
-
Manry, J.1
Laval, G.2
Patin, E.3
Fornarino, S.4
Itan, Y.5
Fumagalli, M.6
Sironi, M.7
Tichit, M.8
Bouchier, C.9
Casanova, J.L.10
-
50
-
-
42349112088
-
Genomewide association studies for complex traits: Consensus, uncertainty and challenges
-
McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J., Ioannidis JP, Hirschhorn JN. 2008. Genomewide association studies for complex traits: Consensus, uncertainty and challenges. Nat Rev Genet 9: 356-369.
-
(2008)
Nat Rev Genet
, vol.9
, pp. 356-369
-
-
McCarthy, M.I.1
Abecasis, G.R.2
Cardon, L.R.3
Goldstein, D.B.4
Little, J.5
Ioannidis, J.P.6
Hirschhorn, J.N.7
-
51
-
-
2142773942
-
The fine-scale structure of recombination rate variation in the human genome
-
McVean GA, Myers SR, Hunt S, Deloukas P, Bentley DR, Donnelly P. 2004. The fine-scale structure of recombination rate variation in the human genome. Science 304: 581-584.
-
(2004)
Science
, vol.304
, pp. 581-584
-
-
McVean, G.A.1
Myers, S.R.2
Hunt, S.3
Deloukas, P.4
Bentley, D.R.5
Donnelly, P.6
-
52
-
-
26844482093
-
A fine-scale map of recombination rates and hotspots across the human genome
-
Myers S., Bottolo L, Freeman C, McVean G, Donnelly P. 2005. A fine-scale map of recombination rates and hotspots across the human genome. Science 310: 321-324.
-
(2005)
Science
, vol.310
, pp. 321-324
-
-
Myers, S.1
Bottolo, L.2
Freeman, C.3
McVean, G.4
Donnelly, P.5
-
53
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng S.B., Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C., Shaffer T, Wong M, Bhattacharjee A, Eichler EE, et al. 2009. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461: 272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
Shaffer, T.7
Wong, M.8
Bhattacharjee, A.9
Eichler, E.E.10
-
54
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng S.B., Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent K.M., Huff CD, Shannon PT, Jabs EW, Nickerson DA, et al. 2010. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42: 30-35.
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
-
55
-
-
35348988170
-
Recent and ongoing selection in the human genome
-
Nielsen R., Hellmann I, Hubisz M, Bustamante C, Clark AG. 2007. Recent and ongoing selection in the human genome. Nat Rev Genet 8: 857-868.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 857-868
-
-
Nielsen, R.1
Hellmann, I.2
Hubisz, M.3
Bustamante, C.4
Clark, A.G.5
-
56
-
-
84862668325
-
Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean
-
Nishida N., Sawai H, Matsuura K, Sugiyama M, Ahn SH, Park J.Y., Hige S, Kang JH, Suzuki K, Kurosaki M, et al. 2012. Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean. PLoS ONE 7: e39175.
-
(2012)
PLoS ONE
, vol.7
-
-
Nishida, N.1
Sawai, H.2
Matsuura, K.3
Sugiyama, M.4
Ahn, S.H.5
Park, J.Y.6
Hige, S.7
Kang, J.H.8
Suzuki, K.9
Kurosaki, M.10
-
57
-
-
84861715100
-
Genome-wide association study of antibody response to smallpox vaccine
-
Ovsyannikova I.G., Kennedy RB, O'Byrne M, Jacobson RM, Pankratz V.S., Poland GA. 2012. Genome-wide association study of antibody response to smallpox vaccine. Vaccine 30: 4182-4189.
-
(2012)
Vaccine
, vol.30
, pp. 4182-4189
-
-
Ovsyannikova, I.G.1
Kennedy, R.B.2
O'Byrne, M.3
Jacobson, R.M.4
Pankratz, V.S.5
Poland, G.A.6
-
58
-
-
65649088588
-
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity
-
Picard C., McCarl CA, Papolos A, Khalil S, Luthy K, Hivroz C., LeDeist F, Rieux-Laucat F, Rechavi G, Rao A, et al. 2009. STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med 360: 1971-1980.
-
(2009)
N Engl J Med
, vol.360
, pp. 1971-1980
-
-
Picard, C.1
McCarl, C.A.2
Papolos, A.3
Khalil, S.4
Luthy, K.5
Hivroz, C.6
LeDeist, F.7
Rieux-Laucat, F.8
Rechavi, G.9
Rao, A.10
-
59
-
-
66049157487
-
Signals of recent positive selection in a worldwide sample of human populations
-
Pickrell J.K., Coop G, Novembre J, Kudaravalli S, Li JZ, Absher D., Srinivasan BS, Barsh GS, Myers RM, Feldman MW, et al. 2009. Signals of recent positive selection in a worldwide sample of human populations. Genome Res 19: 826-837.
-
(2009)
Genome Res
, vol.19
, pp. 826-837
-
-
Pickrell, J.K.1
Coop, G.2
Novembre, J.3
Kudaravalli, S.4
Li, J.Z.5
Absher, D.6
Srinivasan, B.S.7
Barsh, G.S.8
Myers, R.M.9
Feldman, M.W.10
-
60
-
-
80052765014
-
A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region
-
Png E., Thalamuthu A, Ong RT, Snippe H, Boland GJ, Seielstad M. 2011. A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region. Hum Mol Genet 20: 3893-3898.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3893-3898
-
-
Png, E.1
Thalamuthu, A.2
Ong, R.T.3
Snippe, H.4
Boland, G.J.5
Seielstad, M.6
-
61
-
-
84855718039
-
A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians
-
Png E., Alisjahbana B, Sahiratmadja E, Marzuki S, Nelwan R, Balabanova Y., Nikolayevskyy V, Drobniewski F, Nejentsev S, Adnan I, et al. 2012. A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians. BMC Med Genet 13: 5.
-
(2012)
BMC Med Genet
, vol.13
, pp. 5
-
-
Png, E.1
Alisjahbana, B.2
Sahiratmadja, E.3
Marzuki, S.4
Nelwan, R.5
Balabanova, Y.6
Nikolayevskyy, V.7
Drobniewski, F.8
Nejentsev, S.9
Adnan, I.10
-
62
-
-
0036799545
-
The allelic architecture of human disease genes: Common disease-common variant. or not?
-
Pritchard J.K., Cox NJ. 2002. The allelic architecture of human disease genes: Common disease-common variant. or not? Hum Mol Genet 11: 2417-2423.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2417-2423
-
-
Pritchard, J.K.1
Cox, N.J.2
-
63
-
-
20144369614
-
Pathogen-driven selection and worldwide HLA class I diversity
-
Prugnolle F., Manica A, Charpentier M, Guegan JF, Guernier V, Balloux F. 2005. Pathogen-driven selection and worldwide HLA class I diversity. Curr Biol 15: 1022-1027.
-
(2005)
Curr Biol
, vol.15
, pp. 1022-1027
-
-
Prugnolle, F.1
Manica, A.2
Charpentier, M.3
Guegan, J.F.4
Guernier, V.5
Balloux, F.6
-
64
-
-
35548956882
-
Immunology in natura: Clinical, epidemiological and evolutionary genetics of infectious diseases
-
Quintana-Murci L, Alcais A, Abel L, Casanova JL. 2007. Immunology in natura: Clinical, epidemiological and evolutionary genetics of infectious diseases. Nat Immunol 8: 1165-1171.
-
(2007)
Nat Immunol
, vol.8
, pp. 1165-1171
-
-
Quintana-Murci, L.1
Alcais, A.2
Abel, L.3
Casanova, J.L.4
-
65
-
-
77949831342
-
Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: A genome-wide association study
-
Rauch A., Kutalik Z, Descombes P, Cai T, Di Iulio J, Mueller T., Bochud M, Battegay M, Bernasconi E, Borovicka J., et al. 2010. Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: A genome-wide association study. Gastroenterology 138: 1338-1345.
-
(2010)
Gastroenterology
, vol.138
, pp. 1338-1345
-
-
Rauch, A.1
Kutalik, Z.2
Descombes, P.3
Cai, T.4
di Iulio, J.5
Mueller, T.6
Bochud, M.7
Battegay, M.8
Bernasconi, E.9
Borovicka, J.10
-
66
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R., Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W., 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
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
-
67
-
-
0035451780
-
On the allelic spectrum of human disease
-
Reich D.E., Lander ES. 2001. On the allelic spectrum of human disease. Trends Genet 17: 502-510.
-
(2001)
Trends Genet
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
68
-
-
33745121154
-
Positive natural selection in the human lineage
-
Sabeti P.C., Schaffner SF, Fry B, Lohmueller J, Varilly P, Shamovsky O., Palma A, Mikkelsen TS, Altshuler D, Lander ES. 2006. Positive natural selection in the human lineage. Science 312: 1614-1620.
-
(2006)
Science
, vol.312
, pp. 1614-1620
-
-
Sabeti, P.C.1
Schaffner, S.F.2
Fry, B.3
Lohmueller, J.4
Varilly, P.5
Shamovsky, O.6
Palma, A.7
Mikkelsen, T.S.8
Altshuler, D.9
Lander, E.S.10
-
69
-
-
35349012592
-
Genome-wide detection and characterization of positive selection in human populations
-
Sabeti P.C., Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C., Xie X, Byrne EH, McCarroll SA, Gaudet R, et al. 2007. Genome-wide detection and characterization of positive selection in human populations. Nature 449: 913-918.
-
(2007)
Nature
, vol.449
, pp. 913-918
-
-
Sabeti, P.C.1
Varilly, P.2
Fry, B.3
Lohmueller, J.4
Hostetter, E.5
Cotsapas, C.6
Xie, X.7
Byrne, E.H.8
McCarroll, S.A.9
Gaudet, R.10
-
70
-
-
0035865322
-
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
-
Sachidanandam R., Weissman D, Schmidt SC, Kakol JM, Stein L.D., Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey D.L., et al. 2001. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928-933.
-
(2001)
Nature
, vol.409
, pp. 928-933
-
-
Sachidanandam, R.1
Weissman, D.2
Schmidt, S.C.3
Kakol, J.M.4
Stein, L.D.5
Marth, G.6
Sherry, S.7
Mullikin, J.C.8
Mortimore, B.J.9
Willey, D.L.10
-
71
-
-
79952807443
-
Rab GTPases regulating phagosome maturation are differentially recruited tomycobacterial phagosomes
-
Seto S., Tsujimura K, Koide Y. 2011. Rab GTPases regulating phagosome maturation are differentially recruited tomycobacterial phagosomes. Traffic 12: 407-420.
-
(2011)
Traffic
, vol.12
, pp. 407-420
-
-
Seto, S.1
Tsujimura, K.2
Koide, Y.3
-
72
-
-
77952671750
-
The hygiene hypothesis: An evolutionary perspective
-
Sironi M., Clerici M. 2010. The hygiene hypothesis: An evolutionary perspective. Microbes Infect 12: 421-427.
-
(2010)
Microbes Infect
, vol.12
, pp. 421-427
-
-
Sironi, M.1
Clerici, M.2
-
73
-
-
70349548852
-
IL28B is associated with response to chronic hepatitis C interferon-α and ribavirin therapy
-
Suppiah V., Moldovan M, Ahlenstiel G, Berg T, Weltman M, Abate M.L., Bassendine M, Spengler U, Dore GJ, Powell E, et al. 2009. IL28B is associated with response to chronic hepatitis C interferon-α and ribavirin therapy. Nat Genet 41: 1100-1104.
-
(2009)
Nat Genet
, vol.41
, pp. 1100-1104
-
-
Suppiah, V.1
Moldovan, M.2
Ahlenstiel, G.3
Berg, T.4
Weltman, M.5
Abate, M.L.6
Bassendine, M.7
Spengler, U.8
Dore, G.J.9
Powell, E.10
-
74
-
-
70349533037
-
Genome-wide association of IL28B with response to pegylated interferon-α and ribavirin therapy for chronic hepatitis C
-
Tanaka Y., Nishida N, Sugiyama M, Kurosaki M, Matsuura K, Sakamoto N., Nakagawa M, Korenaga M, Hino K, Hige S, et al. 2009. Genome-wide association of IL28B with response to pegylated interferon-α and ribavirin therapy for chronic hepatitis C. Nat Genet 41: 1105-1109.
-
(2009)
Nat Genet
, vol.41
, pp. 1105-1109
-
-
Tanaka, Y.1
Nishida, N.2
Sugiyama, M.3
Kurosaki, M.4
Matsuura, K.5
Sakamoto, N.6
Nakagawa, M.7
Korenaga, M.8
Hino, K.9
Hige, S.10
-
75
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
The 1000 Genomes Project Consortium
-
The 1000 Genomes Project Consortium. 2010. A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
76
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
The ENCODE Project Consortium
-
The ENCODE Project Consortium. 2012. An integrated encyclopedia of DNA elements in the human genome. Nature 489: 57-74.
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
-
77
-
-
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
-
-
-
78
-
-
70349966196
-
Genetic variation in IL28B and spontaneous clearance of hepatitis C virus
-
Thomas D.L., Thio CL, Martin MP, Qi Y, Ge D, O'Huigin C, Kidd J., Kidd K, Khakoo SI, Alexander G, et al. 2009. Genetic variation in IL28B and spontaneous clearance of hepatitis C virus. Nature 461: 798-801.
-
(2009)
Nature
, vol.461
, pp. 798-801
-
-
Thomas, D.L.1
Thio, C.L.2
Martin, M.P.3
Qi, Y.4
Ge, D.5
O'Huigin, C.6
Kidd, J.7
Kidd, K.8
Khakoo, S.I.9
Alexander, G.10
-
79
-
-
0034691122
-
Recent common ancestry of human Y chromosomes: Evidence from DNA sequence data
-
Thomson R., Pritchard JK, Shen P, Oefner PJ, FeldmanMW. 2000. Recent common ancestry of human Y chromosomes: Evidence from DNA sequence data. Proc Natl Acad Sci 97: 7360-7365.
-
(2000)
Proc Natl Acad Sci
, vol.97
, pp. 7360-7365
-
-
Thomson, R.1
Pritchard, J.K.2
Shen, P.3
Oefner, P.J.4
Feldman, M.W.5
-
80
-
-
77956635151
-
Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2
-
Thye T., Vannberg FO, Wong SH, Owusu-Dabo E, Osei I, Gyapong J., Sirugo G, Sisay-Joof F, Enimil A, Chinbuah MA, et al. 2010. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. Nat Genet 42: 739-741.
-
(2010)
Nat Genet
, vol.42
, pp. 739-741
-
-
Thye, T.1
Vannberg, F.O.2
Wong, S.H.3
Owusu-Dabo, E.4
Osei, I.5
Gyapong, J.6
Sirugo, G.7
Sisay-Joof, F.8
Enimil, A.9
Chinbuah, M.A.10
-
81
-
-
84857647593
-
Common variants at 11p13 are associated with susceptibility to tuberculosis
-
Thye T., Owusu-Dabo E, Vannberg FO, van Crevel R, Curtis J, Sahiratmadja E., Balabanova Y, Ehmen C, Muntau B, Ruge G., et al. 2012. Common variants at 11p13 are associated with susceptibility to tuberculosis. Nat Genet 44: 257-259.
-
(2012)
Nat Genet
, vol.44
, pp. 257-259
-
-
Thye, T.1
Owusu-Dabo, E.2
Vannberg, F.O.3
van Crevel, R.4
Curtis, J.5
Sahiratmadja, E.6
Balabanova, Y.7
Ehmen, C.8
Muntau, B.9
Ruge, G.10
-
82
-
-
66249116333
-
The genetic structure and history of Africans and African Americans
-
Tishkoff S.A., Reed FA, Friedlaender FR, Ehret C, Ranciaro A, FromentA, HirboJB, AwomoyiAA, BodoJM, DoumboO, et al. 2009. The genetic structure and history of Africans and African Americans. Science 324: 1035-1044.
-
(2009)
Science
, vol.324
, pp. 1035-1044
-
-
Tishkoff, S.A.1
Reed, F.A.2
Friedlaender, F.R.3
Ehret, C.4
Ranciaro, A.5
Froment, A.6
Hirbo, J.B.7
Awomoyi, A.A.8
Bodo, J.M.9
Doumbo, O.10
-
83
-
-
79951877143
-
Human genetic susceptibility to intracellular pathogens
-
Vannberg F.O., Chapman SJ, Hill AV. 2011. Human genetic susceptibility to intracellular pathogens. Immunol Rev 240: 105-116.
-
(2011)
Immunol Rev
, vol.240
, pp. 105-116
-
-
Vannberg, F.O.1
Chapman, S.J.2
Hill, A.V.3
-
84
-
-
0035895505
-
The sequence of the human genome
-
Venter J.C., Adams MD, Myers EW, Li PW, Mural RJ, Sutton G.G., Smith HO, Yandell M, Evans CA, Holt RA, 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
Sutton, G.G.6
Smith, H.O.7
Yandell, M.8
Evans, C.A.9
Holt, R.A.10
-
85
-
-
29444451610
-
Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes
-
Voight B.F., Adams AM, Frisse LA, Qian Y, Hudson RR, Di Rienzo A. 2005. Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. ProcNatl Acad Sci 102: 18508-18513.
-
(2005)
ProcNatl Acad Sci
, vol.102
, pp. 18508-18513
-
-
Voight, B.F.1
Adams, A.M.2
Frisse, L.A.3
Qian, Y.4
Hudson, R.R.5
di Rienzo, A.6
-
87
-
-
77957654090
-
Leprosy and the adaptation of human toll-like receptor 1
-
Wong S.H., Gochhait S, Malhotra D, Pettersson FH, Teo Y.Y., Khor CC, Rautanen A, Chapman SJ, Mills TC, Srivastava A., et al. 2010a. Leprosy and the adaptation of human toll-like receptor 1. PLoS Pathog 6: e1000979.
-
(2010)
PLoS Pathog
, vol.6
-
-
Wong, S.H.1
Gochhait, S.2
Malhotra, D.3
Pettersson, F.H.4
Teo, Y.Y.5
Khor, C.C.6
Rautanen, A.7
Chapman, S.J.8
Mills, T.C.9
Srivastava, A.10
-
88
-
-
77950972193
-
Genomewide association study of leprosy
-
Wong S.H., Hill AV, Vannberg FO. 2010b. Genomewide association study of leprosy. N Engl J Med 362: 1447-1448.
-
(2010)
N Engl J Med
, vol.362
, pp. 1447-1448
-
-
Wong, S.H.1
Hill, A.V.2
Vannberg, F.O.3
-
89
-
-
79251645624
-
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
-
Worthey E.A., Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith R.L., et al. 2011. Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 13: 255-262.
-
(2011)
Genet Med
, vol.13
, pp. 255-262
-
-
Worthey, E.A.1
Mayer, A.N.2
Syverson, G.D.3
Helbling, D.4
Bonacci, B.B.5
Decker, B.6
Serpe, J.M.7
Dasu, T.8
Tschannen, M.R.9
Veith, R.L.10
-
90
-
-
55149102403
-
Inborn errors of interferon (IFN)-mediated immunity in humans: Insights into the respective roles of IFN-α/β, IFN-γ, and IFN-l in host defense
-
Zhang S.Y., Boisson-Dupuis S, Chapgier A, Yang K, Bustamante J, Puel A, Picard C, Abel L, Jouanguy E, Casanova JL. 2008. Inborn errors of interferon (IFN)-mediated immunity in humans: Insights into the respective roles of IFN-α/β, IFN-γ, and IFN-l in host defense. Immunol Rev 226: 29-40.
-
(2008)
Immunol Rev
, vol.226
, pp. 29-40
-
-
Zhang, S.Y.1
Boisson-Dupuis, S.2
Chapgier, A.3
Yang, K.4
Bustamante, J.5
Puel, A.6
Picard, C.7
Abel, L.8
Jouanguy, E.9
Casanova, J.L.10
-
91
-
-
74049127960
-
Genomewide association study of leprosy
-
Zhang F.R., HuangW, Chen SM, Sun LD, Liu H, Li Y, Cui Y, Yan X.X., Yang HT, Yang RD, et al. 2009. Genomewide association study of leprosy. N Engl J Med 361: 2609-2618.
-
(2009)
N Engl J Med
, vol.361
, pp. 2609-2618
-
-
Zhang, F.R.1
Huang, W.2
Chen, S.M.3
Sun, L.D.4
Liu, H.5
Li, Y.6
Cui, Y.7
Yan, X.X.8
Yang, H.T.9
Yang, R.D.10
-
92
-
-
82255179222
-
Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy
-
Zhang F., Liu H, Chen S, Low H, Sun L, Cui Y, Chu T, Li Y, Fu X., Yu Y, et al. 2011. Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. Nat Genet 43: 1247-1251.
-
(2011)
Nat Genet
, vol.43
, pp. 1247-1251
-
-
Zhang, F.1
Liu, H.2
Chen, S.3
Low, H.4
Sun, L.5
Cui, Y.6
Chu, T.7
Li, Y.8
Fu, X.9
Yu, Y.10
|