-
1
-
-
17344372511
-
A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus
-
Concannon P, Gogolin-Ewens KJ, Hinds DA, Wapelhorst B, Morrison VA, Stirling B, Mitra M, Farmer J, Williams SR, Cox NJ, Bell GI, Risch N, Spielman RS: A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nat Genet 1998; 19: 292-296.
-
(1998)
Nat Genet
, vol.19
, pp. 292-296
-
-
Concannon, P.1
Gogolin-Ewens, K.J.2
Hinds, D.A.3
Wapelhorst, B.4
Morrison, V.A.5
Stirling, B.6
Mitra, M.7
Farmer, J.8
Williams, S.R.9
Cox, N.J.10
Bell, G.I.11
Risch, N.12
Spielman, R.S.13
-
2
-
-
0020956352
-
The affected sib method. II. The intermediate model
-
Louis EJ, Thomson G, Payami H: The affected sib method. II. The intermediate model. Ann Hum Genet 1983; 47: 225-243.
-
(1983)
Ann Hum Genet
, vol.47
, pp. 225-243
-
-
Louis, E.J.1
Thomson, G.2
Payami, H.3
-
3
-
-
0021861415
-
The affected sib method. I. Statistical features of the affected sibpair method
-
Motro U, Thomson G: The affected sib method. I. Statistical features of the affected sibpair method. Genetics 1985; 110: 525-538.
-
(1985)
Genetics
, vol.110
, pp. 525-538
-
-
Motro, U.1
Thomson, G.2
-
4
-
-
0004287575
-
The genetic analysis of HLA and disease association
-
Dausset J, Svejgaard A (eds)
-
Thomson G, Bodmer W: The genetic analysis of HLA and disease association; in Dausset J, Svejgaard A (eds): HLA and Disease. Baltimore, Williams and Wilkins, 1977, pp 84-93.
-
(1977)
HLA and Disease. Baltimore, Williams and Wilkins
, pp. 84-93
-
-
Thomson, G.1
Bodmer, W.2
-
6
-
-
0021343570
-
A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus
-
Bell GI, Horita S, Karam JH: A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 1984; 33: 176-183.
-
(1984)
Diabetes
, vol.33
, pp. 176-183
-
-
Bell, G.I.1
Horita, S.2
Karam, J.H.3
-
7
-
-
0035978651
-
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
-
Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G: Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001; 411: 599-603.
-
(2001)
Nature
, vol.411
, pp. 599-603
-
-
Hugot, J.P.1
Chamaillard, M.2
Zouali, H.3
Lesage, S.4
Cezard, J.P.5
Belaiche, J.6
Almer, S.7
Tysk, C.8
O'Morain, C.A.9
Gassull, M.10
Binder, V.11
Finkel, Y.12
Cortot, A.13
Modigliani, R.14
Laurent-Puig, P.15
Gower-Rousseau, C.16
MacRy, J.17
Colombel, J.F.18
Sahbatou, M.19
Thomas, G.20
more..
-
8
-
-
0029741063
-
The future of genetic studies of complex human diseases
-
Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517.
-
(1996)
Science
, vol.273
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
-
9
-
-
33746331248
-
The international HapMap consortium: The international HapMap project
-
The International HapMap Consortium: The International HapMap Project. Nature 2003; 426: 789-796.
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
10
-
-
34447577485
-
The international HapMap consortium: A haplotype map of the human genome
-
The International HapMap Consortium: A haplotype map of the human genome. Nature 2005; 437: 1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
11
-
-
41549105745
-
The international HapMap consortium: A second generation human haplotype map of over 3.1 million SNPs
-
The International HapMap Consortium: A second generation human haplotype map of over 3.1 million SNPs. Nature 2007; 449: 851-861.
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
-
12
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM: Finding the missing heritability of complex diseases. Nature 2009; 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
Cho, J.H.11
Guttmacher, A.E.12
Kong, A.13
Kruglyak, L.14
Mardis, E.15
Rotimi, C.N.16
Slatkin, M.17
Valle, D.18
Whittemore, A.S.19
Boehnke, M.20
Clark, A.G.21
Eichler, E.E.22
Gibson, G.23
Haines, J.L.24
MacKay, T.F.25
McCarroll, S.A.26
Visscher, P.M.27
more..
-
13
-
-
76649136928
-
An evaluation of statistical approaches to rare variant analysis in genetic association studies
-
Morris AP, Zeggini E: An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol 2010; 34: 188-193.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 188-193
-
-
Morris, A.P.1
Zeggini, E.2
-
14
-
-
78349264203
-
A covering method for detecting genetic associations between rare variants and common phenotypes
-
Bhatia G, Bansal V, Harismendy O, Schork NJ, Topol EJ, Frazer K, Bafna V: A covering method for detecting genetic associations between rare variants and common phenotypes. PLoS Comput Biol 2010; 6:e1000954.
-
(2010)
PLoS Comput Biol
, vol.6
-
-
Bhatia, G.1
Bansal, V.2
Harismendy, O.3
Schork, N.J.4
Topol, E.J.5
Frazer, K.6
Bafna, V.7
-
15
-
-
77951028197
-
A data-adaptive sum test for disease association with multiple common or rare variants
-
Han F, Pan W: A data-adaptive sum test for disease association with multiple common or rare variants. Hum Hered 2010; 70: 42-54.
-
(2010)
Hum Hered
, vol.70
, pp. 42-54
-
-
Han, F.1
Pan, W.2
-
16
-
-
79952253512
-
A new testing strategy to identify rare variants with either risk or protective effect on disease
-
Ionita-Laza I, Buxbaum JD, Laird NM, Lange C: A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet 2011; 7:e1001289.
-
(2011)
PLoS Genet
, vol.7
-
-
Ionita-Laza, I.1
Buxbaum, J.D.2
Laird, N.M.3
Lange, C.4
-
18
-
-
78649717215
-
An evolutionary framework for association testing in resequencing studies
-
King CR, Rathouz PJ, Nicolae DL: An evolutionary framework for association testing in resequencing studies. PLoS Genet 2010; 6: e1001202.
-
(2010)
PLoS Genet
, vol.6
-
-
King, C.R.1
Rathouz, P.J.2
Nicolae, D.L.3
-
19
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
-
Li B, Leal SM: Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 2008; 83: 311-321.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
20
-
-
78449245227
-
A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions
-
Liu DJ, Leal SM: A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions. PLoS Genet 2010; 6:e1001156.
-
(2010)
PLoS Genet
, vol.6
-
-
Liu, D.J.1
Leal, S.M.2
-
21
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
Madsen BE, Browning SR: A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 2009; 5:e1000384.
-
(2009)
PLoS Genet
, vol.5
-
-
Madsen, B.E.1
Browning, S.R.2
-
22
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, Kathiresan S, Purcell SM, Roeder K, Daly MJ: Testing for an unusual distribution of rare variants. PLoS Genet 2011; 7:e1001322.
-
(2011)
PLoS Genet
, vol.7
-
-
Neale, B.M.1
Rivas, M.A.2
Voight, B.F.3
Altshuler, D.4
Devlin, B.5
Orho-Melander, M.6
Kathiresan, S.7
Purcell, S.M.8
Roeder, K.9
Daly, M.J.10
-
23
-
-
77953121877
-
Pooled association tests for rare variants in exon-resequencing studies
-
Price AL, Kryukov GV, De Bakker PIW, Purcell SM, Staples J, Wei LJ, Sunyaev SR: Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet 2010; 86: 832-838.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 832-838
-
-
Price, A.L.1
Kryukov, G.V.2
De Bakker, P.I.W.3
Purcell, S.M.4
Staples, J.5
Wei, L.J.6
Sunyaev, S.R.7
-
24
-
-
80051499915
-
Rare-variant association testing for sequencing data with the sequence kernel association test
-
Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X: Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet 2011; 89: 82-93.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 82-93
-
-
Wu, M.C.1
Lee, S.2
Cai, T.3
Li, Y.4
Boehnke, M.5
Lin, X.6
-
25
-
-
82455194217
-
Identity-bydescent filtering as a tool for the identification of disease alleles in exome sequence data from distant relatives
-
Akula N, Detera-Wadleigh S, Shugart YY, Nalls M, Steele J, McMahon FJ: Identity-bydescent filtering as a tool for the identification of disease alleles in exome sequence data from distant relatives. BMC Proc 2011; 5(suppl 9):S76.
-
(2011)
BMC Proc
, vol.5
, Issue.SUPPL. 9
-
-
Akula, N.1
Detera-Wadleigh, S.2
Shugart, Y.Y.3
Nalls, M.4
Steele, J.5
McMahon, F.J.6
-
26
-
-
82455170451
-
Using linkage analysis of large pedigrees to guide association analyses
-
Choi SH, Liu C, Dupuis J, Logue MW, Jun G: Using linkage analysis of large pedigrees to guide association analyses. BMC Proc 2011; 5(suppl 9):S79.
-
(2011)
BMC Proc
, vol.5
, Issue.SUPPL. 9
-
-
Choi, S.H.1
Liu, C.2
Dupuis, J.3
Logue, M.W.4
Jun, G.5
-
27
-
-
81255175654
-
Study designs for identification of rare disease variants in complex diseases: The utility of family-based designs
-
Ionita-Laza I, Ottman R: Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs. Genetics 2011; 189: 1061-1068.
-
(2011)
Genetics
, vol.189
, pp. 1061-1068
-
-
Ionita-Laza, I.1
Ottman, R.2
-
28
-
-
80051827842
-
Optimum designs for nextgeneration sequencing to discover rare variants for common complex disease
-
Shi G, Rao DC: Optimum designs for nextgeneration sequencing to discover rare variants for common complex disease. Genet Epidemiol 2011; 35: 572-579.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 572-579
-
-
Shi, G.1
Rao, D.C.2
-
29
-
-
82455170454
-
Enriching rare variants using family-specific linkage information
-
Shi G, Simino J, Rao DC: Enriching rare variants using family-specific linkage information. BMC Proc 2011; 5(suppl 9):S82.
-
(2011)
BMC Proc
, vol.5
, Issue.SUPPL. 9
-
-
Shi, G.1
Simino, J.2
Rao, D.C.3
-
30
-
-
82455194220
-
A novel method to detect rare variants using both family and unrelated case-control data
-
Feng T, Elston R, Zhu X: A novel method to detect rare variants using both family and unrelated case-control data. BMC Proc 2011; 5(suppl 9):S80.
-
(2011)
BMC Proc
, vol.5
, Issue.SUPPL. 9
-
-
Feng, T.1
Elston, R.2
Zhu, X.3
-
31
-
-
76649122154
-
Detecting rare variants for complex traits using family and unrelated data
-
Zhu X, Feng T, Li Y, Lu Q, Elston RC: Detecting rare variants for complex traits using family and unrelated data. Genet Epidemiol 2010; 34: 171-187.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 171-187
-
-
Zhu, X.1
Feng, T.2
Li, Y.3
Lu, Q.4
Elston, R.C.5
-
32
-
-
0000803318
-
Construction of multilocus genetic linkage maps in humans
-
Lander ES, Green P: Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci USA 1987; 84: 2363-2367.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 2363-2367
-
-
Lander, E.S.1
Green, P.2
-
33
-
-
80051816176
-
Identity by descent estimation with dense genome-wide genotype data
-
Han L, Abney M: Identity by descent estimation with dense genome-wide genotype data. Genet Epidemiol 2011; 35: 557-567.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 557-567
-
-
Han, L.1
Abney, M.2
-
34
-
-
0000937686
-
Tests for linear trends in proportions and frequencies
-
Armitage P: Tests for linear trends in proportions and frequencies. Biometrics 1955; 11: 375-386.
-
(1955)
Biometrics
, vol.11
, pp. 375-386
-
-
Armitage, P.1
-
35
-
-
0031466983
-
From genotypes to genes: Doubling the sample size
-
Sasieni PD: From genotypes to genes: doubling the sample size. Biometrics 1997; 53: 1253-1261.
-
(1997)
Biometrics
, vol.53
, pp. 1253-1261
-
-
Sasieni, P.D.1
-
36
-
-
84876498603
-
Use of association and linkage information for the study of multifactorial disease
-
Pawlowitzki IH, Edwards JH, Thompson EA (eds). San Diego, Academic Press
-
Clerget-Darpoux F: Use of association and linkage information for the study of multifactorial disease; in Pawlowitzki IH, Edwards JH, Thompson EA (eds): Genetic Mapping of Disease Genes. San Diego, Academic Press, 1997, pp 179-187.
-
(1997)
Genetic Mapping of Disease Genes
, pp. 179-187
-
-
Clerget-Darpoux, F.1
-
37
-
-
84876484891
-
A note on the relative power of association studies and linkage analysis in the genetic analysis of disease
-
in Pawlowitzki IH, Edwards JH, Thompson EA (eds). San Diego, Academic Press
-
Muller-Myhsok B: A note on the relative power of association studies and linkage analysis in the genetic analysis of disease; in Pawlowitzki IH, Edwards JH, Thompson EA (eds): Genetic Mapping of Disease Genes. San Diego, Academic Press, 1997, pp 173-178.
-
(1997)
Genetic Mapping of Disease Genes
, pp. 173-178
-
-
Muller-Myhsok, B.1
-
38
-
-
20244385126
-
New classification of HLA-DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility
-
Tezenas du Montcel S, Michou L, Petit-Teixeira E, Osorio J, Lemaire I, Lasbleiz S, Pierlot C, Quillet P, Bardin T, Prum B, Cornelis F, Clerget-Darpoux F: New classification of HLA-DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility. Arthritis Rheum 2005; 52: 1063-1068.
-
(2005)
Arthritis Rheum
, vol.52
, pp. 1063-1068
-
-
Tezenas Du Montcel, S.1
Michou, L.2
Petit-Teixeira, E.3
Osorio, J.4
Lemaire, I.5
Lasbleiz, S.6
Pierlot, C.7
Quillet, P.8
Bardin, T.9
Prum, B.10
Cornelis, F.11
Clerget-Darpoux, F.12
-
39
-
-
38049088242
-
Modeling the effect of PTPN22 in rheumatoid arthritis
-
Bourgey M, Perdry H, Clerget-Darpoux F: Modeling the effect of PTPN22 in rheumatoid arthritis. BMC Proc 2007; 1(suppl 1):S37.
-
(2007)
BMC Proc
, vol.1
, Issue.SUPPL. 1
-
-
Bourgey, M.1
Perdry, H.2
Clerget-Darpoux, F.3
-
40
-
-
84857194909
-
Determination of the real effect of genes identified in GWAS: The example of IL2RA in multiple sclerosis
-
Babron MC, Perdry H, Handel AE, Ramagopalan SV, Damotte V, Fontaine B, Muller- Myhsok B, Ebers GC, Clerget-Darpoux F: Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis. Eur J Hum Genet 2011; 20: 321-325.
-
(2011)
Eur J Hum Genet
, vol.20
, pp. 321-325
-
-
Babron, M.C.1
Perdry, H.2
Handel, A.E.3
Ramagopalan, S.V.4
Damotte, V.5
Fontaine, B.6
Muller-Myhsok, B.7
Ebers, G.C.8
Clerget-Darpoux, F.9
-
41
-
-
0023811493
-
A new method to test genetic models in HLA associated diseases: The MASC method
-
Clerget-Darpoux F, Babron MC, Prum B, Lathrop GM, Deschamps I, Hors J: A new method to test genetic models in HLA associated diseases: the MASC method. Ann Hum Genet 1988; 52: 247-258.
-
(1988)
Ann Hum Genet
, vol.52
, pp. 247-258
-
-
Clerget-Darpoux, F.1
Babron, M.C.2
Prum, B.3
Lathrop, G.M.4
Deschamps, I.5
Hors, J.6
-
42
-
-
0025019555
-
Linkage strategies for genetically complex traits. I. Multilocus models
-
Risch N: Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 1990; 46: 222-228.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 222-228
-
-
Risch, N.1
-
43
-
-
0036201577
-
CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease
-
EPWG-IBD Group EPIMAD Group GETAID Group
-
Lesage S, Zouali H, Cezard JP, Colombel JF, Belaiche J, Almer S, Tysk C, O'Morain C, Gassull M, Binder V, Finkel Y, Modigliani R, Gower-Rousseau C, Macry J, Merlin F, Chamaillard M, Jannot AS, Thomas G, Hugot JP; EPWG-IBD Group, EPIMAD Group, and GETAID Group: CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002; 70: 845-857.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 845-857
-
-
Lesage, S.1
Zouali, H.2
Cezard, J.P.3
Colombel, J.F.4
Belaiche, J.5
Almer, S.6
Tysk, C.7
O'Morain, C.8
Gassull, M.9
Binder, V.10
Finkel, Y.11
Modigliani, R.12
Gower-Rousseau, C.13
MacRy, J.14
Merlin, F.15
Chamaillard, M.16
Jannot, A.S.17
Thomas, G.18
Hugot, J.P.19
-
44
-
-
84864931903
-
Exome sequencing identifies FUS mutations as a cause of essential tremor
-
Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Riviere JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupre N, Bernard G, Chouinard S, Dion PA, Rouleau GA: Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet 2012; 91: 313-319.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 313-319
-
-
Merner, N.D.1
Girard, S.L.2
Catoire, H.3
Bourassa, C.V.4
Belzil, V.V.5
Riviere, J.B.6
Hince, P.7
Levert, A.8
Dionne-Laporte, A.9
Spiegelman, D.10
Noreau, A.11
Diab, S.12
Szuto, A.13
Fournier, H.14
Raelson, J.15
Belouchi, M.16
Panisset, M.17
Cossette, P.18
Dupre, N.19
Bernard, G.20
Chouinard, S.21
Dion, P.A.22
Rouleau, G.A.23
more..
-
45
-
-
84869480730
-
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort
-
Ribeiro LA, Roessler E, Hu P, Pineda-Alvarez DE, Zhou N, Jones S, Abd Chandrasekharappa M, Richieri-Costa A, Muenke M: Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. Birth Defects Res A Clin Mol Teratol 2012; 94: 912-917.
-
(2012)
Birth Defects Res A Clin Mol Teratol
, vol.94
, pp. 912-917
-
-
Ribeiro, L.A.1
Roessler, E.2
Hu, P.3
Pineda-Alvarez, D.E.4
Zhou, N.5
Jones, S.6
Abd Chandrasekharappa, M.7
Richieri-Costa, A.8
Muenke, M.9
-
46
-
-
0004012196
-
-
Boca Raton, CRC Press
-
Gelman A, Carlin JB, Stern HS, Rubin DB: Bayesian Data Analysis. Boca Raton, CRC Press, 2004.
-
(2004)
Bayesian Data Analysis
-
-
Gelman, A.1
Carlin, J.B.2
Stern, H.S.3
Rubin, D.B.4
|