-
1
-
-
0345689450
-
Positional identification of microdeletions with genetic markers
-
Amos CI, Shete S, Chen J, Yu RK (2003) Positional identification of microdeletions with genetic markers. Hum Hered 56:107-118
-
(2003)
Hum Hered
, vol.56
, pp. 107-118
-
-
Amos, C.I.1
Shete, S.2
Chen, J.3
Yu, R.K.4
-
2
-
-
0032901048
-
Sequence organization of the class II region of human MHC
-
Beck S, Trowsdale J (1999) Sequence organization of the class II region of human MHC. Immunol Rev 167:201-210
-
(1999)
Immunol Rev
, vol.167
, pp. 201-210
-
-
Beck, S.1
Trowsdale, J.2
-
3
-
-
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(1):75-81
-
(2006)
Nat Genet
, vol.38
, Issue.1
, pp. 75-81
-
-
Conrad, D.F.1
Andrews, T.D.2
Carter, N.P.3
Hurles, M.E.4
Pritchard, J.K.5
-
4
-
-
0032168750
-
New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study
-
Cornelis F, Faure S, Martinez M, Prud'hommer JF, Fritz P, Dib C, Alves H, Barrera P, de Vries N et al (1998) New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci USA 95:10746-10750
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 10746-10750
-
-
Cornelis, F.1
Faure, S.2
Martinez, M.3
Prud'hommer, J.F.4
Fritz, P.5
Dib, C.6
Alves, H.7
Barrera, P.8
de Vries, N.9
-
5
-
-
44349148621
-
Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays
-
Franke L, de Kovel CG, Aulchenko YS, Trynka G, Zhernakova A, Hunt KA, Blauw HM, van den Berg LH, Ophoff R, Deloukas P et al (2008) Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays. Am J Hum Genet 82(6):1316-1333
-
(2008)
Am J Hum Genet
, vol.82
, Issue.6
, pp. 1316-1333
-
-
Franke, L.1
de Kovel, C.G.2
Aulchenko, Y.S.3
Trynka, G.4
Zhernakova, A.5
Hunt, K.A.6
Blauw, H.M.7
van den Berg, L.H.8
Ophoff, R.9
Deloukas, P.10
-
6
-
-
33746741125
-
Copy number variation: New insights in genome diversity
-
Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME et al (2006) Copy number variation: New insights in genome diversity. Genome Res 16:949-961
-
(2006)
Genome Res
, vol.16
, pp. 949-961
-
-
Freeman, J.L.1
Perry, G.H.2
Feuk, L.3
Redon, R.4
McCarroll, S.A.5
Altshuler, D.M.6
Aburatani, H.7
Jones, K.W.8
Tyler-Smith, C.9
Hurles, M.E.10
-
7
-
-
41149141319
-
Probability of detecting disease-associated single nucleotide polymorphisms in case-control genome-wide association studies
-
Gail MH, Pfeiffer RM, Wheeler W, Pee D (2008) Probability of detecting disease-associated single nucleotide polymorphisms in case-control genome-wide association studies. Biostatistics 9:201-215
-
(2008)
Biostatistics
, vol.9
, pp. 201-215
-
-
Gail, M.H.1
Pfeiffer, R.M.2
Wheeler, W.3
Pee, D.4
-
8
-
-
0027359535
-
Disease clusters, exact distributions of maxima, and p-values
-
Grimson RC (1993) Disease clusters, exact distributions of maxima, and p-values. Stat Med 12:1773-1794
-
(1993)
Stat Med
, vol.12
, pp. 1773-1794
-
-
Grimson, R.C.1
-
9
-
-
0034525001
-
A method for detecting current temporal clusters of toxic events through data monitoring by poison control center
-
Grimson RC, Mendelsohn S (2000) A method for detecting current temporal clusters of toxic events through data monitoring by poison control center. J Toxicol Clin Toxicol 38(7):761-765
-
(2000)
J Toxicol Clin Toxicol
, vol.38
, Issue.7
, pp. 761-765
-
-
Grimson, R.C.1
Mendelsohn, S.2
-
10
-
-
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(1):82-85
-
(2006)
Nat Genet
, vol.38
, Issue.1
, pp. 82-85
-
-
Hinds, D.A.1
Kloek, A.P.2
Jen, M.3
Chen, X.4
Frazer, K.A.5
-
11
-
-
37249031330
-
Sequence-level population simulations over large genomic regions
-
Hoggart CJ, Chadeau-Hyam M, Clark TG, Lampariello R, Whittaker JC, De Iorio M, Balding DJ (2007) Sequence-level population simulations over large genomic regions. Genetics 177(3):1725-1731
-
(2007)
Genetics
, vol.177
, Issue.3
, pp. 1725-1731
-
-
Hoggart, C.J.1
Chadeau-Hyam, M.2
Clark, T.G.3
Lampariello, R.4
Whittaker, J.C.5
De Iorio, M.6
Balding, D.J.7
-
12
-
-
0035069106
-
A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases
-
Jawaheer D, Seldin MF, Amos CI, Chen WV, Shigeta R, Monteiro J, Kern M, Criswell LA, Albani S, Nelson JL et al (2001) A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. Am J Hum Genet 68:927-936
-
(2001)
Am J Hum Genet
, vol.68
, pp. 927-936
-
-
Jawaheer, D.1
Seldin, M.F.2
Amos, C.I.3
Chen, W.V.4
Shigeta, R.5
Monteiro, J.6
Kern, M.7
Criswell, L.A.8
Albani, S.9
Nelson, J.L.10
-
13
-
-
0037389679
-
Screening the genome for rheumatoid arthritis susceptibility genes: A replication study and combined analysis of 512 multicase families
-
Jawaheer D, Seldin MF, Amos CI, Chen WV, Shigeta R, Etzel C, Damle A, Xiao X, Chen D, Lum RF et al (2003) Screening the genome for rheumatoid arthritis susceptibility genes: A replication study and combined analysis of 512 multicase families. Arthritis Rheum 48:906-916
-
(2003)
Arthritis Rheum
, vol.48
, pp. 906-916
-
-
Jawaheer, D.1
Seldin, M.F.2
Amos, C.I.3
Chen, W.V.4
Shigeta, R.5
Etzel, C.6
Damle, A.7
Xiao, X.8
Chen, D.9
Lum, R.F.10
-
14
-
-
35348960370
-
Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies
-
Kohler JR, Cutler DJ (2007) Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies. Am J Hum Genet 81(4):684-699
-
(2007)
Am J Hum Genet
, vol.81
, Issue.4
, pp. 684-699
-
-
Kohler, J.R.1
Cutler, D.J.2
-
15
-
-
0035514706
-
Chromosomal microdeletions: Dissecting del22q11 syndrome
-
Lindsay EA (2001) Chromosomal microdeletions: Dissecting del22q11 syndrome. Nat Rev Genet 2(11):858-868
-
(2001)
Nat Rev Genet
, vol.2
, Issue.11
, pp. 858-868
-
-
Lindsay, E.A.1
-
16
-
-
0037168523
-
Genetic variation in the 22q11 locus and susceptibility to schizophrenia
-
Liu H, Abecasis GR, Heath SC, Knowles A, Demars S, Chen YJ, Roos JL, Rapoport JL, Gogos JA, Karayiorgou M (2002) Genetic variation in the 22q11 locus and susceptibility to schizophrenia. Proc Natl Acad Sci USA 99(26):16859-16864
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, Issue.26
, pp. 16859-16864
-
-
Liu, H.1
Abecasis, G.R.2
Heath, S.C.3
Knowles, A.4
Demars, S.5
Chen, Y.J.6
Roos, J.L.7
Rapoport, J.L.8
Gogos, J.A.9
Karayiorgou, M.10
-
17
-
-
0036188754
-
Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom
-
MacKay K, Eyre S, Myerscough A, Milicic A, Barton A, Laval S, Barrett J, Lee D, White S, John S et al (2002) Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom. Arthritis Rheum 46:632-639
-
(2002)
Arthritis Rheum
, vol.46
, pp. 632-639
-
-
MacKay, K.1
Eyre, S.2
Myerscough, A.3
Milicic, A.4
Barton, A.5
Laval, S.6
Barrett, J.7
Lee, D.8
White, S.9
John, S.10
-
18
-
-
29444457877
-
International HapMap Consortium. Common deletion polymorphisms in the human genome
-
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ et al (2006) International HapMap Consortium. Common deletion polymorphisms in the human genome. Nat Genet 38(1):86-92
-
(2006)
Nat Genet
, vol.38
, Issue.1
, pp. 86-92
-
-
McCarroll, S.A.1
Hadnott, T.N.2
Perry, G.H.3
Sabeti, P.C.4
Zody, M.C.5
Barrett, J.C.6
Dallaire, S.7
Gabriel, S.B.8
Lee, C.9
Daly, M.J.10
-
19
-
-
2142773942
-
The fine-scale structure of recombination rate variation in the human genome
-
304
-
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 23;304(5670):581-584
-
(2004)
Science
, vol.23
, Issue.5670
, pp. 581-584
-
-
McVean, G.A.1
Myers, S.R.2
Hunt, S.3
Deloukas, P.4
Bentley, D.R.5
Donnelly, P.6
-
20
-
-
34047228125
-
Forward-time simulations of human populations with complex diseases
-
3
-
Peng B, Amos CI, Kimmel M (2007) Forward-time simulations of human populations with complex diseases. PLoS Genet 23;3(3):e47
-
(2007)
PLoS Genet
, vol.23
, Issue.3
-
-
Peng, B.1
Amos, C.I.2
Kimmel, M.3
-
21
-
-
34548849168
-
TRAF1-C5 as a risk locus for rheumatoid arthritis - A genomewide study
-
Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, Liew A, Khalili H, Chandrasekaran A, Davies LR et al (2007) TRAF1-C5 as a risk locus for rheumatoid arthritis - a genomewide study. N Engl J Med 357:1199-1209
-
(2007)
N Engl J Med
, vol.357
, pp. 1199-1209
-
-
Plenge, R.M.1
Seielstad, M.2
Padyukov, L.3
Lee, A.T.4
Remmers, E.F.5
Ding, B.6
Liew, A.7
Khalili, H.8
Chandrasekaran, A.9
Davies, L.R.10
-
22
-
-
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
-
23
-
-
29444442794
-
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
-
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerrière A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M et al (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38(1):24-26
-
(2006)
Nat Genet
, vol.38
, Issue.1
, pp. 24-26
-
-
Rovelet-Lecrux, A.1
Hannequin, D.2
Raux, G.3
Le Meur, N.4
Laquerrière, A.5
Vital, A.6
Dumanchin, C.7
Feuillette, S.8
Brice, A.9
Vercelletto, M.10
-
24
-
-
27544497650
-
Calibrating a coalescent simulation of human genome sequence variation
-
Schaffner SF, Foo C, Gabriel S, Reich D, Daly MJ, Altshuler D (2005) Calibrating a coalescent simulation of human genome sequence variation. Genome Res 15(11):1576-1583
-
(2005)
Genome Res
, vol.15
, Issue.11
, pp. 1576-1583
-
-
Schaffner, S.F.1
Foo, C.2
Gabriel, S.3
Reich, D.4
Daly, M.J.5
Altshuler, D.6
-
25
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J 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
Walsh, T.6
Yamrom, B.7
Yoon, S.8
Krasnitz, A.9
Kendall, J.10
-
27
-
-
33746954641
-
A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia
-
Shifman S, Levit A, Chen ML, Chen CH, Bronstein M, Weizman A, Yakir B, Navon R, Darvasi A (2006) A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia. Hum Genet 120(2):160-170
-
(2006)
Hum Genet
, vol.120
, Issue.2
, pp. 160-170
-
-
Shifman, S.1
Levit, A.2
Chen, M.L.3
Chen, C.H.4
Bronstein, M.5
Weizman, A.6
Yakir, B.7
Navon, R.8
Darvasi, A.9
-
28
-
-
0022374209
-
Structural organization of the DR subregion of the human major histocompatibility complex
-
Spies T, Sorrentino R, Boss JM, Okada K, Strominger JL (1985) Structural organization of the DR subregion of the human major histocompatibility complex. Proc Natl Acad Sci USA 82:5165-5169
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 5165-5169
-
-
Spies, T.1
Sorrentino, R.2
Boss, J.M.3
Okada, K.4
Strominger, J.L.5
-
29
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE et al (2008) Large recurrent microdeletions associated with schizophrenia. Nature 455:232-236
-
(2008)
Nature
, vol.455
, pp. 232-236
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
Pietiläinen, O.P.4
Ingason, A.5
Steinberg, S.6
Fossdal, R.7
Sigurdsson, E.8
Sigmundsson, T.9
Buizer-Voskamp, J.E.10
-
30
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee 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
Thorne, N.6
Redon, R.7
Bird, C.P.8
de Grassi, A.9
Lee, C.10
-
31
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE (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
Pertz, L.M.6
Haugen, E.7
Hayden, H.8
Albertson, D.9
Pinkel, D.10
Olson, M.V.11
Eichler, E.E.12
-
32
-
-
0033870688
-
When did the human population size start increasing?
-
Wall JD, Przeworski M (2000) When did the human population size start increasing? Genetics 155(4):1865-1874
-
(2000)
Genetics
, vol.155
, Issue.4
, pp. 1865-1874
-
-
Wall, J.D.1
Przeworski, M.2
-
33
-
-
0023140234
-
An approximation for the distribution of the scan statistic
-
Wallenstein S, Neff N (1987) An approximation for the distribution of the scan statistic. Stat Med 6(2):197-207
-
(1987)
Stat Med
, vol.6
, Issue.2
, pp. 197-207
-
-
Wallenstein, S.1
Neff, N.2
-
34
-
-
18744416514
-
Digital karyotyping
-
Wang TL, Maierhofer C, Speicher MR, Lengauer C, Vogelstein B, Kinzler KW, Velculescu VE (2002) Digital karyotyping. Proc Natl Acad Sci USA 99:16156-16161
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 16156-16161
-
-
Wang, T.L.1
Maierhofer, C.2
Speicher, M.R.3
Lengauer, C.4
Vogelstein, B.5
Kinzler, K.W.6
Velculescu, V.E.7
-
35
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T et al (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7):667-675
-
(2008)
N Engl J Med
, vol.358
, Issue.7
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
Arking, D.E.4
Miller, D.T.5
Fossdal, R.6
Saemundsen, E.7
Stefansson, H.8
Ferreira, M.A.9
Green, T.10
-
36
-
-
33846006596
-
A comprehensive analysis of common copy-number variations in the human genome
-
Wong KK, de Leeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, MacAulay C, Ng RT, Brown CJ, Eichler EE et al (2007) A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80(1):91-104
-
(2007)
Am J Hum Genet
, vol.80
, Issue.1
, pp. 91-104
-
-
Wong, K.K.1
de Leeuw, R.J.2
Dosanjh, N.S.3
Kimm, L.R.4
Cheng, Z.5
Horsman, D.E.6
MacAulay, C.7
Ng, R.T.8
Brown, C.J.9
Eichler, E.E.10
-
37
-
-
41149168715
-
Statistical methods for anomalous discrete time series based on minimum cell count
-
Wu CC, Grimson RC, Amos CI, Shete S (2008) Statistical methods for anomalous discrete time series based on minimum cell count. Biom J 50(1):86-96
-
(2008)
Biom J
, vol.50
, Issue.1
, pp. 86-96
-
-
Wu, C.C.1
Grimson, R.C.2
Amos, C.I.3
Shete, S.4
-
38
-
-
18444371140
-
Presence of large deletions in kindreds with autism
-
Yu CE, Dawson G, Munson J, D'Souza I, Osterling J, Estes A, Leutenegger AL, Flodman P, Smith M, Raskind WH et al (2002) Presence of large deletions in kindreds with autism. Am J Hum Genet 71(1):100-115
-
(2002)
Am J Hum Genet
, vol.71
, Issue.1
, pp. 100-115
-
-
Yu, C.E.1
Dawson, G.2
Munson, J.3
D'Souza, I.4
Osterling, J.5
Estes, A.6
Leutenegger, A.L.7
Flodman, P.8
Smith, M.9
Raskind, W.H.10
|