-
1
-
-
27244437783
-
Handling marker-marker linkage disequilibrium: Pedigree analysis with clustered markers
-
Abecasis, G.R. and Wigginton, J.E. 2005. Handling marker-marker linkage disequilibrium: Pedigree analysis with clustered markers. Am. J. Hum. Genet. 77:754-767.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 754-767
-
-
Abecasis, G.R.1
Wigginton, J.E.2
-
2
-
-
9144264420
-
High accuracy genotyping directly from genomic DNA using a rolling circle amplification based assay
-
Alsmadi, O.A., Bornarth, C.J., Song, W., Wisniewski, M., Du, J., Brockman, J.P., Faruqi, A.F., Hosono, S., Sun, Z., Du, Y., Wu, X., Egholm, M., Abarzua, P., Lasken, R.S., and Driscoll, M.D. 2003. High accuracy genotyping directly from genomic DNA using a rolling circle amplification based assay. BMC Genomics 4:21.
-
(2003)
BMC Genomics
, vol.4
, pp. 21
-
-
Alsmadi, O.A.1
Bornarth, C.J.2
Song, W.3
Wisniewski, M.4
Du, J.5
Brockman, J.P.6
Faruqi, A.F.7
Hosono, S.8
Sun, Z.9
Du, Y.10
Wu, X.11
Egholm, M.12
Abarzua, P.13
Lasken, R.S.14
Driscoll, M.D.15
-
3
-
-
0034727107
-
An SNP map of the human genome generated by reduced representation shotgun sequencing
-
Altshuler, D., Pollara, V.J., Cowles, C.R., Van Etten, W.J., Baldwin, J., Linton, L., and Lander, E.S. 2000. An SNP map of the human genome generated by reduced representation shotgun sequencing. Nature 407:513-516.
-
(2000)
Nature
, vol.407
, pp. 513-516
-
-
Altshuler, D.1
Pollara, V.J.2
Cowles, C.R.3
Van Etten, W.J.4
Baldwin, J.5
Linton, L.6
Lander, E.S.7
-
4
-
-
70949106022
-
Haploview: Visualization and analysis of SNP genotype data
-
pdb.ip71
-
Barrett, J.C. 2009. Haploview: Visualization and analysis of SNP genotype data. CSH Protoc. 2009:pdb.ip71.
-
(2009)
CSH Protoc
, pp. 2009
-
-
Barrett, J.C.1
-
5
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
Barrett, J.C., Fry, B., Maller, J., and Daly, M.J. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics21:263-265.
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
6
-
-
0026518648
-
Survey of human and rat microsatellites
-
Beckmann, J. and Weber, J. 1992. Survey of human and rat microsatellites. Genomics 12:627-631.
-
(1992)
Genomics
, vol.12
, pp. 627-631
-
-
Beckmann, J.1
Weber, J.2
-
7
-
-
73349138875
-
Exome sequencing makes medical genomics a reality
-
Biesecker, L.G. 2010. Exome sequencing makes medical genomics a reality. Nat. Genet. 42:13-14.
-
(2010)
Nat. Genet.
, vol.42
, pp. 13-14
-
-
Biesecker, L.G.1
-
8
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
Botstein, D. and Risch, N. 2003. Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease. Nat. Genet. 33:228.
-
(2003)
Nat. Genet.
, vol.33
, pp. 228
-
-
Botstein, D.1
Risch, N.2
-
9
-
-
0019302053
-
Construction of a genetic linkage map in man using restriction fragment length polymorphisms
-
Botstein, D., White, R.L., Skolnick, M., and Davis, R.W. 1980. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32:314-331.
-
(1980)
Am. J. Hum. Genet.
, vol.32
, pp. 314-331
-
-
Botstein, D.1
White, R.L.2
Skolnick, M.3
Davis, R.W.4
-
10
-
-
0033018816
-
Reliable identification of large numbers of candidate SNPs from public EST data
-
Buetow, K.H., Edmonson, M.N., and Cassidy, A.B. 1999. Reliable identification of large numbers of candidate SNPs from public EST data. Nat. Genet. 21:323.
-
(1999)
Nat. Genet.
, vol.21
, pp. 323
-
-
Buetow, K.H.1
Edmonson, M.N.2
Cassidy, A.B.3
-
11
-
-
18144445946
-
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
-
Buckley, P.G., Mantripragada, K.K., Benetkiewicz, M., Tapia-Paez, I., Diaz, D.S., Rosenquist, M., Ali, H., Jarbo, C., De Bustos, C., Hirvela, C., Sinder, W.B., Fransson, I., Thyr, C., Johnsson, B.I., Bruder, C.E., Menzel, U., Hergersberg, M., Mandahl, N., Blennow, E., Wedell, A., Beare, D.M., Collins, J.E., Dunham, I., Albertson, D., Pinkel, D., Bastian, B.C., Faruqi, A.F., Lasken, R.S., Ichimura, K., Collins, V.P., and Dumanski, J.P. 2002. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum. Mol. Genet. 11:3221-3229.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 3221-3229
-
-
Buckley, P.G.1
Mantripragada, K.K.2
Benetkiewicz, M.3
Tapia-Paez, I.4
Diaz, D.S.5
Rosenquist, M.6
Ali, H.7
Jarbo, C.8
De Bustos, C.9
Hirvela, C.10
Sinder, W.B.11
Fransson, I.12
Thyr, C.13
Johnsson, B.I.14
Bruder, C.E.15
Menzel, U.16
Hergersberg, M.17
Mandahl, N.18
Blennow, E.19
Wedell, A.20
Beare, D.M.21
Collins, J.E.22
Dunham, I.23
Albertson, D.24
Pinkel, D.25
Bastian, B.C.26
Faruqi, A.F.27
Lasken, R.S.28
Ichimura, K.29
Collins, V.P.30
Dumanski, J.P.31
more..
-
12
-
-
16844364521
-
Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci
-
Buckley, P.G., Jarbo, C., Menzel, U., Mathiesen, T., Scott, C., Gregory, S.G., Langford, C.F., and Dumanski,J.P. 2005. Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci. Cancer Res. 65:2653-2661.
-
(2005)
Cancer Res
, vol.65
, pp. 2653-2661
-
-
Buckley, P.G.1
Jarbo, C.2
Menzel, U.3
Mathiesen, T.4
Scott, C.5
Gregory, S.G.6
Langford, C.F.7
Dumanski, J.P.8
-
13
-
-
33644904034
-
Genetics and genomics of core short tandem repeat loci used in human identity testing
-
Butler, J.M. 2006. Genetics and genomics of core short tandem repeat loci used in human identity testing. J. Forensic Sci. 51:253-265.
-
(2006)
J. Forensic Sci.
, vol.51
, pp. 253-265
-
-
Butler, J.M.1
-
14
-
-
0036218046
-
Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays
-
Cai, W.W., Mao, J.H., Chow, C.W., Damani, S., Balmain, A., and Bradley, A. 2002. Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays. Nat. Biotechnol. 20:393-396.
-
(2002)
Nat. Biotechnol.
, vol.20
, pp. 393-396
-
-
Cai, W.W.1
Mao, J.H.2
Chow, C.W.3
Damani, S.4
Balmain, A.5
Bradley, A.6
-
15
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
Cargill, M., Altshuler, D., Ireland, J., Sklar, P., and Ardlie, K. 1999. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 22:2-31.
-
(1999)
Nat. Genet.
, vol.22
, pp. 2-31
-
-
Cargill, M.1
Altshuler, D.2
Ireland, J.3
Sklar, P.4
Ardlie, K.5
-
16
-
-
0346373654
-
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium
-
Carlson, C.S., Eberle, M.A., Rieder, M.J., Yi, Q., and Kruglyak, L. 2004. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am. J. Hum. Genet. 74:106.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 106
-
-
Carlson, C.S.1
Eberle, M.A.2
Rieder, M.J.3
Yi, Q.4
Kruglyak, L.5
-
17
-
-
84984932946
-
Population genetics-making sense out of sequence
-
Chakravarti, A. 1999. Population genetics-making sense out of sequence. Nat. Genet. 21:56.
-
(1999)
Nat. Genet.
, vol.21
, pp. 56
-
-
Chakravarti, A.1
-
18
-
-
0035937259
-
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation
-
Chasman, D. and Adams, R.M. 2001. Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation. J. Mol. Biol. 307:683-706.
-
(2001)
J. Mol. Biol.
, vol.307
, pp. 683-706
-
-
Chasman, D.1
Adams, R.M.2
-
19
-
-
0030688004
-
Variations on a theme: Cataloging human DNA sequence variation
-
Collins, F.S., Guyer, M.S., and Charkravarti, A. 1997. Variations on a theme: Cataloging human DNA sequence variation. Science 278:1580.
-
(1997)
Science
, vol.278
, pp. 1580
-
-
Collins, F.S.1
Guyer, M.S.2
Charkravarti, A.3
-
20
-
-
0032429154
-
A DNA polymorphism discovery resource for research on human genetic variation
-
Collins, F.S., Brooks, L.D., and Chakravarti, A. 1998. A DNA polymorphism discovery resource for research on human genetic variation. Genome Res. 8:1229-1231.
-
(1998)
Genome Res
, vol.8
, pp. 1229-1231
-
-
Collins, F.S.1
Brooks, L.D.2
Chakravarti, A.3
-
21
-
-
1842435261
-
Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations
-
Crawford, D.C., Carlson, C.S., Rieder, M.J., Carrington, D.P., and Yi, Q. 2004. Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am. J. Hum. Genet. 74:610.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 610
-
-
Crawford, D.C.1
Carlson, C.S.2
Rieder, M.J.3
Carrington, D.P.4
Yi, Q.5
-
22
-
-
25844484059
-
The patterns of natural variation in human genes
-
Crawford, D.C., Akey, D.T., and Nickerson, D.A. 2005. The patterns of natural variation in human genes. Ann. Rev. Genom. Hum. Genet. 6:287-312.
-
(2005)
Ann. Rev. Genom. Hum. Genet.
, vol.6
, pp. 287-312
-
-
Crawford, D.C.1
Akey, D.T.2
Nickerson, D.A.3
-
23
-
-
17744396306
-
A SNP resource for human chromosome 22: Extracting dense clusters of SNPs from the genomic sequence
-
Dawson, E., Chen, Y., Hunt, S., Smink, L.J., Hunt, A., Rice, K., Livingston, S., Bumpstead, S., Bruskiewich, R., Sham, P., Ganske, R., Adams, M., Kawasaki, K., Shimizu, N., Minoshima, S., Roe, B., Bentley, D., and Dunham, I. 2001. A SNP resource for human chromosome 22: Extracting dense clusters of SNPs from the genomic sequence. Genome Res. 11:170-178.
-
(2001)
Genome Res
, vol.11
, pp. 170-178
-
-
Dawson, E.1
Chen, Y.2
Hunt, S.3
Smink, L.J.4
Hunt, A.5
Rice, K.6
Livingston, S.7
Bumpstead, S.8
Bruskiewich, R.9
Sham, P.10
Ganske, R.11
Adams, M.12
Kawasaki, K.13
Shimizu, N.14
Minoshima, S.15
Roe, B.16
Bentley, D.17
Dunham, I.18
-
24
-
-
0034830935
-
Rapid amplification of plasmid and phage DNA using Phi 29 DNA polymerase and multiply-primed rolling circle amplification
-
Dean, F.B., Nelson, J.R., Giesler, T.L., and Lasken, R.S. 2001. Rapid amplification of plasmid and phage DNA using Phi 29 DNA polymerase and multiply-primed rolling circle amplification. Genome Res. 11:1095-1099.
-
(2001)
Genome Res
, vol.11
, pp. 1095-1099
-
-
Dean, F.B.1
Nelson, J.R.2
Giesler, T.L.3
Lasken, R.S.4
-
25
-
-
68349093751
-
Selection and evaluation of Tag-SNPs using Tagger and HapMap
-
pdb.ip67
-
De Bakker, P.I. 2009. Selection and evaluation of Tag-SNPs using Tagger and HapMap. CSH Pro-toc. 2009:pdb.ip67.
-
(2009)
CSH Protoc
, pp. 2009
-
-
De Bakker, P.I.1
-
26
-
-
27644439141
-
Efficiency and power in genetic association studies
-
De Bakker, P.I., Yelensky, R., Pe'er, I., Gabriel, S.B., Daly, M.J., Altshuler, D. 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
Altshuler, D.6
-
27
-
-
0029945859
-
Reusing the same blood-stained punch for sequential DNA amplifications and typing
-
Del Rio, S., Marino, M., and Belgrader, P. 1996. Reusing the same blood-stained punch for sequential DNA amplifications and typing. Biotechniques 20:970-974.
-
(1996)
Biotechniques
, vol.20
, pp. 970-974
-
-
Del Rio, S.1
Marino, M.2
Belgrader, P.3
-
28
-
-
0035104666
-
A cSNP map and database for human chromosome 21
-
Deutsch, S., Iseli, C., Bucher, P., Antonarakis, S.E., and Scott, H.S. 2001. A cSNP map and database for human chromosome 21. Genome Res. 11:300-307.
-
(2001)
Genome Res
, vol.11
, pp. 300-307
-
-
Deutsch, S.1
Iseli, C.2
Bucher, P.3
Antonarakis, S.E.4
Scott, H.S.5
-
29
-
-
0023663060
-
A genetic linkage map of the human genome
-
Donis-Keller, H., Green, P., Helms, C., Cartinhour, S., Weiffenbach, B., Stephens, K., Keith, T., Bowden, D., Smith, D., Lander, E., Botstein, D., Akots, G., Rediker, S., Gravius, T., Brown, V., Rising, M., Parker, C., Powers, J., Watt, D., Kauffman, E., Bricker, A., Phipps, P., Muller-Kahle, H., Fulton, T., Ng, S., Schumm, J., Braman, J., Knowlton, R., Barker, D., Crooks, S., Lincoln, S., Daly, M., and Abrahamson, J. 1987. A genetic linkage map of the human genome. Cell 51:319-337.
-
(1987)
Cell
, vol.51
, pp. 319-337
-
-
Donis-Keller, H.1
Green, P.2
Helms, C.3
Cartinhour, S.4
Weiffenbach, B.5
Stephens, K.6
Keith, T.7
Bowden, D.8
Smith, D.9
Lander, E.10
Botstein, D.11
Akots, G.12
Rediker, S.13
Gravius, T.14
Brown, V.15
Rising, M.16
Parker, C.17
Powers, J.18
Watt, D.19
Kauffman, E.20
Bricker, A.21
Phipps, P.22
Muller-Kahle, H.23
Fulton, T.24
Ng, S.25
Schumm, J.26
Braman, J.27
Knowlton, R.28
Barker, D.29
Crooks, S.30
Lincoln, S.31
Daly, M.32
Abrahamson, J.33
more..
-
30
-
-
0025939939
-
DNA typing and genetic mapping with trimeric and tetrameric tandem repeats
-
Edwards, A., Civitello, A., Hammond, H.A., and Caskey, C.T. 1991. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am. J. Hum. Genet. 49:746-756.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 746-756
-
-
Edwards, A.1
Civitello, A.2
Hammond, H.A.3
Caskey, C.T.4
-
31
-
-
4544335122
-
Guidelines for genotyping in genome-wide linkage studies: Single-Nucleotide-Polymorphism maps versus microsatellite maps
-
Evans, D.M. and Cardon, L.R. 2004. Guidelines for genotyping in genome-wide linkage studies: Single-Nucleotide-Polymorphism maps versus microsatellite maps. Am. J. Hum. Genet. 75:687-692.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 687-692
-
-
Evans, D.M.1
Cardon, L.R.2
-
32
-
-
33746266617
-
Highly parallel genomic assays
-
Fan, J.B., Chee, M.S., and Gunderson, K.L. 2006. Highly parallel genomic assays. Nat. Rev. Genet. 7:632-644.
-
(2006)
Nat. Rev. Genet.
, vol.7
, pp. 632-644
-
-
Fan, J.B.1
Chee, M.S.2
Gunderson, K.L.3
-
33
-
-
0024309572
-
Physical mapping of a translocation breakpoint in neurofibro-matosis
-
Fountain, J., Wallace, M., Bruce, M., Seizinger, B., Menon, A., Gusela, J., Michels, J., Schmidt, M., Dewald, G., and Collins, F. 1989. Physical mapping of a translocation breakpoint in neurofibro-matosis. Science 244:1085-1087.
-
(1989)
Science
, vol.244
, pp. 1085-1087
-
-
Fountain, J.1
Wallace, M.2
Bruce, M.3
Seizinger, B.4
Menon, A.5
Gusela, J.6
Michels, J.7
Schmidt, M.8
Dewald, G.9
Collins, F.10
-
34
-
-
0021839541
-
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne Muscular Dystrophy, Chronic Granulomatous Disease, Retinitis Pigmentosa, and Mcleod Syndrome
-
Francke, U., Ochs, H., De Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R., Hofker, M., van Ommen, G.-J., Pearson, P., and Wedgwood, R. 1985. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne Muscular Dystrophy, Chronic Granulomatous Disease, Retinitis Pigmentosa, and Mcleod Syndrome. Am. J. Hum. Genet. 37:250-267.
-
(1985)
Am. J. Hum. Genet.
, vol.37
, pp. 250-267
-
-
Francke, U.1
Ochs, H.2
De Martinville, B.3
Giacalone, J.4
Lindgren, V.5
Disteche, C.6
Pagon, R.7
Hofker, M.8
van Ommen, G.-J.9
Pearson, P.10
Wedgwood, R.11
-
35
-
-
0036128504
-
Characteristics of genetic markers and maps for cost-effective genome screens using diallelic markers
-
Goddard, K.A. and Wijsman, E.M. 2002. Characteristics of genetic markers and maps for cost-effective genome screens using diallelic markers. Genet. Epidemiol. 22:205-220.
-
(2002)
Genet. Epidemiol.
, vol.22
, pp. 205-220
-
-
Goddard, K.A.1
Wijsman, E.M.2
-
36
-
-
18144425478
-
A genome-wide scalable SNP genotyping assay using microarray technology
-
Gunderson, K.L., Steemers, F.J., Lee, G., Mendoza, L.G., and Chee, M.S. 2005. A genome-wide scalable SNP genotyping assay using microarray technology. Nat. Genet. 37:549-554.
-
(2005)
Nat. Genet.
, vol.37
, pp. 549-554
-
-
Gunderson, K.L.1
Steemers, F.J.2
Lee, G.3
Mendoza, L.G.4
Chee, M.S.5
-
37
-
-
33747829927
-
Whole-genome genotyping
-
Gunderson, K.L., Steemers, F.J., Ren, H., Ng, P., Zhou, L., Tsan, C., Chang, W., Bullis, D., Musmacker, J., King, C., Lebruska, L.L., Barker, D., Oliphant, A., Kuhn, K.M., Shen, R. 2006. Whole-genome genotyping. Methods Enzymol. 410:359-376.
-
(2006)
Methods Enzymol
, vol.410
, pp. 359-376
-
-
Gunderson, K.L.1
Steemers, F.J.2
Ren, H.3
Ng, P.4
Zhou, L.5
Tsan, C.6
Chang, W.7
Bullis, D.8
Musmacker, J.9
King, C.10
Lebruska, L.L.11
Barker, D.12
Oliphant, A.13
Kuhn, K.M.14
Shen, R.15
-
38
-
-
0036956227
-
Gene-based SNP discovery as part of the Japanese Millennium Genome Project: Identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism
-
Haga, H., Yamada, R., Ohnishi, Y., Nakamura, Y., and Tanaka, T. 2002. Gene-based SNP discovery as part of the Japanese Millennium Genome Project: Identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism. J. Hum. Genet. 47:605.
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 605
-
-
Haga, H.1
Yamada, R.2
Ohnishi, Y.3
Nakamura, Y.4
Tanaka, T.5
-
39
-
-
20244388812
-
Complement factor H variant increases the risk of age-related macular degeneration
-
Haines, J.L., Hauser, M.A., Schmidt, S., Scott, W.K., Olson, L.M., Gallins, P., Spencer, K.L., Kwan, S.Y., Noureddine, M., Gilbert, J.R., Schnetz-Boutaud, N., Agarwal, A., Postel, E.A., and Pericak-Vance, M.A. 2005. Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419-421.
-
(2005)
Science
, vol.308
, pp. 419-421
-
-
Haines, J.L.1
Hauser, M.A.2
Schmidt, S.3
Scott, W.K.4
Olson, L.M.5
Gallins, P.6
Spencer, K.L.7
Kwan, S.Y.8
Noureddine, M.9
Gilbert, J.R.10
Schnetz-Boutaud, N.11
Agarwal, A.12
Postel, E.A.13
Pericak-Vance, M.A.14
-
40
-
-
0025613812
-
Linkage of early-onset familial breast cancer to chromosome 17q21
-
Hall, J.M., Lee, M.K., Newman, B., Morrow, J.E., Anderson, L.A., Huey, B., King, M.C. 1990. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684-1689.
-
(1990)
Science
, vol.250
, pp. 1684-1689
-
-
Hall, J.M.1
Lee, M.K.2
Newman, B.3
Morrow, J.E.4
Anderson, L.A.5
Huey, B.6
King, M.C.7
-
41
-
-
0032990407
-
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
-
Halushka, M.K., Fan, J.B., Bentley, K., Hsie, L., and Shen, N. 1999. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat. Genet. 22:239.
-
(1999)
Nat. Genet.
, vol.22
, pp. 239
-
-
Halushka, M.K.1
Fan, J.B.2
Bentley, K.3
Hsie, L.4
Shen, N.5
-
42
-
-
0033824231
-
Identification of a single nucleotide polymorphism in the MxA gene promoter (G/T at nt -88) correlated with the response of hepatitis C patients to interferon
-
Hijikata, M., Ohta, Y., and Mishiro, S. 2000. Identification of a single nucleotide polymorphism in the MxA gene promoter (G/T at nt -88) correlated with the response of hepatitis C patients to interferon. Intervirology 43:124-127.
-
(2000)
Intervirology
, vol.43
, pp. 124-127
-
-
Hijikata, M.1
Ohta, Y.2
Mishiro, S.3
-
43
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff, L.A., Sethupathy, P., Junkins, HA., Ramos, E.M., Mehta, J.P., Collins, F.S., and Manolio, T.A. 2009. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. PNAS 106:9362-9367.
-
(2009)
PNAS
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
Ramos, E.M.4
Mehta, J.P.5
Collins, F.S.6
Manolio, T.A.7
-
44
-
-
58049217860
-
-
National Human Genome Research Institute [serial online]. [cited 2010 Apr. 22]. Available from
-
Hindorff, L.A., Junkins, H.A., Mehta, J.P., and Manolio, T.A. A Catalog of Published Genome-Wide Association Studies. National Human Genome Research Institute [serial online] 2010; [cited 2010 Apr. 22]. Available from http://www.genome.gov/gwastudies.
-
(2010)
A Catalog of Published Genome-Wide Association Studies
-
-
Hindorff, L.A.1
Junkins, H.A.2
Mehta, J.P.3
Manolio, T.A.4
-
45
-
-
18344392245
-
Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas
-
Hodgson, G., Hager, J.H., Volik, S., Hariono, S., Wernick, M., Moore, D., Nowak, N., Albertson, D.G., Pinkel, D., Collins, C., Hanahan, D., and Gray, J.W. 2001. Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas. Nat. Genet. 29:459-464.
-
(2001)
Nat. Genet.
, vol.29
, pp. 459-464
-
-
Hodgson, G.1
Hager, J.H.2
Volik, S.3
Hariono, S.4
Wernick, M.5
Moore, D.6
Nowak, N.7
Albertson, D.G.8
Pinkel, D.9
Collins, C.10
Hanahan, D.11
Gray, J.W.12
-
46
-
-
33745686140
-
Efficient selection of tagging single-nucleotide polymorphisms in multiple populations
-
Howie, B.N., Carlson, C.S., Rieder, M.J., and Nickerson, D.A. 2006. Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Hum. Genet. 120:58-68.
-
(2006)
Hum. Genet.
, vol.120
, pp. 58-68
-
-
Howie, B.N.1
Carlson, C.S.2
Rieder, M.J.3
Nickerson, D.A.4
-
47
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate, A.J., Feuk, L., Rivera, M.N., Listewnik, M.L., Donahoe, P.K., Qi, Y., Scherer, S.W., and Lee, C. 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
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
48
-
-
79959503826
-
The International HapMap Project
-
International HapMap Consortium
-
International HapMap Consortium. 2003. The International HapMap Project. Nature 426:789-796.
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
49
-
-
79959524146
-
A hap-lotype map of the human genome
-
International HapMap Consortium
-
International HapMap Consortium. 2005. A hap-lotype map of the human genome. Nature 437:1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
50
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
International HapMap Consortium
-
International HapMap Consortium, Frazer, K.A., Ballinger, D.G., Cox, D.R., Hinds, D.A., Stuve, L.L., Gibbs, R.A., Belmont, J.W., Boudreau, A., Hardenbol, P., Leal, S.M., Pasternak, S., Wheeler, D.A., Willis, T.D., Yu, F., Yang, H., Zeng, C., Gao, Y., Hu, H., Hu, W., Li, C., Lin, W., Liu, S., Pan, H., Tang, X., Wang, J., Wang, W., Yu, J., Zhang, B., Zhang, Q., Zhao, H., Zhao, H., Zhou, J., Gabriel, S.B., Barry, R., Blumenstiel, B., Camargo, A., Defelice, M., Faggart, M., Goyette, M., Gupta, S., Moore, J., Nguyen, H., Onofrio, R.C., Parkin, M., Roy, J., Stahl, E., Winchester, E., Ziaugra, L., Altshuler, D., Shen, Y., Yao, Z., Huang, W., Chu, X., He, Y., Jin, L., Liu, Y., Shen, Y., Sun, W., Wang, H., Wang, Y., Wang, Y., Xiong, X., Xu, L., Waye, M.M., Tsui, S.K., Xue, H., Wong, J.T., Galver, L.M., Fan, J.B., Gunderson, K., Murray, S.S., Oliphant, A.R., Chee, M.S., Montpetit, A., Chagnon, F., Ferretti, V., Leboeuf, M., Olivier, J.F., Phillips, M.S., Roumy, S., Sallée, C., Verner, A., Hudson, T.J., Kwok, P.Y., Cai, D., Koboldt, D.C., Miller, R.D., Pawlikowska, L., Taillon-Miller, P., Xiao, M., Tsui, L.C., Mak, W., Song, Y.Q., Tam, P.K., Nakamura, Y., Kawaguchi, T., Kitamoto, T., Morizono, T., Nagashima, A., Ohnishi, Y., Sekine, A., Tanaka, T., Tsunoda, T., Deloukas, P., Bird, C.P., Delgado, M., Dermitzakis, E.T., Gwilliam, R., Hunt, S., Morrison, J., Powell, D., Stranger, B.E., Whittaker, P., Bentley, D.R., Daly, M.J., de Bakker, P.I., Barrett, J., Chretien, Y.R., Maller, J., McCarroll, S., Patterson, N., Pe'er, I., Price, A., Purcell, S., Richter, D.J., Sabeti, P., Saxena, R., Schaffner, S.F., Sham, P.C., Varilly, P., Altshuler, D., Stein, L.D., Krishnan, L., Smith, A.V., Tello-Ruiz, M.K., Thorisson, G.A., Chakravarti, A., Chen, P.E., Cutler, D.J., Kashuk, C.S., Lin, S., Abecasis, G.R., Guan, W., Li, Y., Munro, H.M., Qin, Z.S., Thomas, D.J., McVean, G., Auton, A., Bottolo, L., Cardin, N., Eyheramendy, S., Freeman, C., Marchini, J., Myers, S., Spencer, C., Stephens, M., Donnelly, P., Cardon, L.R., Clarke, G., Evans, D.M., Morris, A.P., Weir, B.S., Tsunoda, T., Mullikin, J.C., Sherry, S.T., Feolo, M., Skol, A., Zhang, H., Zeng, C., Zhao, H., Matsuda, I., Fukushima, Y., Macer, D.R., Suda, E., Rotimi, C.N., Adebamowo, C.A., Ajayi, I., Aniagwu, T., Marshall, P.A., Nkwodimmah, C., Royal, C.D., Leppert, M.F., Dixon, M., Peiffer, A., Qiu, R., Kent, A., Kato, K., Niikawa, N., Adewole, I.F., Knoppers, B.M., Foster, M.W., Clayton, E.W., Watkin, J., Gibbs, R.A., Belmont, J.W., Muzny, D., Nazareth, L., Sodergren, E., Weinstock, G.M., Wheeler, D.A., Yakub, I., Gabriel, S.B., Onofrio, R.C., Richter, D.J., Ziaugra, L., Birren, B.W., Daly, M.J., Altshuler, D., Wilson, R.K., Fulton, L.L., Rogers, J., Burton, J., Carter, N.P., Clee, C.M., Griffiths, M., Jones, M.C., McLay, K., Plumb, R.W., Ross, M.T., Sims, S.K., Willey, D.L., Chen, Z., Han, H., Kang, L., Godbout, M., Wallenburg, J.C., L'Archevêque, P., Bellemare, G., Saeki, K., Wang, H., An, D., Fu, H., Li, Q., Wang, Z., Wang, R., Holden, A.L., Brooks, L.D., McEwen, J.E., Guyer, M.S., Wang, V.O., Peterson, J.L., Shi, M., Spiegel, J., Sung, L.M., Zacharia, L.F., Collins, F.S., Kennedy, K., Jamieson, R., and Stewart, J. 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
Pasternak, S.11
Wheeler, D.A.12
Willis, T.D.13
Yu, F.14
Yang, H.15
Zeng, C.16
Gao, Y.17
Hu, H.18
Hu, W.19
Li, C.20
Lin, W.21
Liu, S.22
Pan, H.23
Tang, X.24
Wang, J.25
Wang, W.26
Yu, J.27
Zhang, B.28
Zhang, Q.29
Zhao, H.30
Zhao, H.31
Zhou, J.32
Gabriel, S.B.33
Barry, R.34
Blumenstiel, B.35
Camargo, A.36
Defelice, M.37
Faggart, M.38
Goyette, M.39
Gupta, S.40
Moore, J.41
Nguyen, H.42
Onofrio, R.C.43
Parkin, M.44
Roy, J.45
Stahl, E.46
Winchester, E.47
Ziaugra, L.48
Altshuler, D.49
Shen, Y.50
Yao, Z.51
Huang, W.52
Chu, X.53
He, Y.54
Jin, L.55
Liu, Y.56
Shen, Y.57
Sun, W.58
Wang, H.59
Wang, Y.60
Wang, Y.61
Xiong, X.62
Xu, L.63
Waye, M.M.64
Tsui, S.K.65
Xue, H.66
Wong, J.T.67
Galver, L.M.68
Fan, J.B.69
Gunderson, K.70
Murray, S.S.71
Oliphant, A.R.72
Chee, M.S.73
Montpetit, A.74
Chagnon, F.75
Ferretti, V.76
Leboeuf, M.77
Olivier, J.F.78
Phillips, M.S.79
Roumy, S.80
Sallée, C.81
Verner, A.82
Hudson, T.J.83
Kwok, P.Y.84
Cai, D.85
Koboldt, D.C.86
Miller, R.D.87
Pawlikowska, L.88
Taillon-Miller, P.89
Xiao, M.90
Tsui, L.C.91
Mak, W.92
Song, Y.Q.93
Tam, P.K.94
Nakamura, Y.95
Kawaguchi, T.96
Kitamoto, T.97
Morizono, T.98
Nagashima, A.99
Ohnishi, Y.100
Sekine, A.101
Tanaka, T.102
Tsunoda, T.103
Deloukas, P.104
Bird, C.P.105
Delgado, M.106
Dermitzakis, E.T.107
Gwilliam, R.108
Hunt, S.109
Morrison, J.110
Powell, D.111
Stranger, B.E.112
Whittaker, P.113
Bentley, D.R.114
Daly, M.J.115
de Bakker, P.I.116
Barrett, J.117
Chretien, Y.R.118
Maller, J.119
McCarroll, S.120
Patterson, N.121
Pe'er, I.122
Price, A.123
Purcell, S.124
Richter, D.J.125
Sabeti, P.126
Saxena, R.127
Schaffner, S.F.128
Sham, P.C.129
Varilly, P.130
Altshuler, D.131
Stein, L.D.132
Krishnan, L.133
Smith, A.V.134
Tello-Ruiz, M.K.135
Thorisson, G.A.136
Chakravarti, A.137
Chen, P.E.138
Cutler, D.J.139
Kashuk, C.S.140
Lin, S.141
Abecasis, G.R.142
Guan, W.143
Li, Y.144
Munro, H.M.145
Qin, Z.S.146
Thomas, D.J.147
McVean, G.148
Auton, A.149
Bottolo, L.150
Cardin, N.151
Eyheramendy, S.152
Freeman, C.153
Marchini, J.154
Myers, S.155
Spencer, C.156
Stephens, M.157
Donnelly, P.158
Cardon, L.R.159
Clarke, G.160
Evans, D.M.161
Morris, A.P.162
Weir, B.S.163
Tsunoda, T.164
Mullikin, J.C.165
Sherry, S.T.166
Feolo, M.167
Skol, A.168
Zhang, H.169
Zeng, C.170
Zhao, H.171
Matsuda, I.172
Fukushima, Y.173
Macer, D.R.174
Suda, E.175
Rotimi, C.N.176
Adebamowo, C.A.177
Ajayi, I.178
Aniagwu, T.179
Marshall, P.A.180
Nkwodimmah, C.181
Royal, C.D.182
Leppert, M.F.183
Dixon, M.184
Peiffer, A.185
Qiu, R.186
Kent, A.187
Kato, K.188
Niikawa, N.189
Adewole, I.F.190
Knoppers, B.M.191
Foster, M.W.192
Clayton, E.W.193
Watkin, J.194
Gibbs, R.A.195
Belmont, J.W.196
Muzny, D.197
Nazareth, L.198
Sodergren, E.199
Weinstock, G.M.200
Wheeler, D.A.201
Yakub, I.202
Gabriel, S.B.203
Onofrio, R.C.204
Richter, D.J.205
Ziaugra, L.206
Birren, B.W.207
Daly, M.J.208
Altshuler, D.209
Wilson, R.K.210
Fulton, L.L.211
Rogers, J.212
Burton, J.213
Carter, N.P.214
Clee, C.M.215
Griffiths, M.216
Jones, M.C.217
McLay, K.218
Plumb, R.W.219
Ross, M.T.220
Sims, S.K.221
Willey, D.L.222
Chen, Z.223
Han, H.224
Kang, L.225
Godbout, M.226
Wallenburg, J.C.227
L'archevêque, P.228
Bellemare, G.229
Saeki, K.230
Wang, H.231
An, D.232
Fu, H.233
Li, Q.234
Wang, Z.235
Wang, R.236
Holden, A.L.237
Brooks, L.D.238
McEwen, J.E.239
Guyer, M.S.240
Wang, V.O.241
Peterson, J.L.242
Shi, M.243
Spiegel, J.244
Sung, L.M.245
Zacharia, L.F.246
Collins, F.S.247
Kennedy, K.248
Jamieson, R.249
Stewart, J.250
more..
-
51
-
-
0035865322
-
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
-
International SNP Map Working Group (IS-NPMWG)
-
International SNP Map Working Group (IS-NPMWG). 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
-
-
-
52
-
-
0033779878
-
Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences
-
Irizarry, K., Kustanovich, V., Li, C., Brown, N., Nelson, S., Wong, W., and Lee, C.J. 2000. Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences. Nat. Genet. 26:233-236.
-
(2000)
Nat. Genet.
, vol.26
, pp. 233-236
-
-
Irizarry, K.1
Kustanovich, V.2
Li, C.3
Brown, N.4
Nelson, S.5
Wong, W.6
Lee, C.J.7
-
53
-
-
3042548992
-
Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: Comparison with microsatellites
-
John, S., Shephard, N., Liu, G., Zeggini, E., Cao, M., Chen, W., Vasavda, N., Mills, T., Barton, A., Hinks, A., Eyre, S., Jones, K.W., Ollier, W., Silman, A., Gibson, N., Worthington, J., and Kennedy, G.C. 2004. Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: Comparison with microsatellites. Am. J. Hum. Genet. 75:54-64.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 54-64
-
-
John, S.1
Shephard, N.2
Liu, G.3
Zeggini, E.4
Cao, M.5
Chen, W.6
Vasavda, N.7
Mills, T.8
Barton, A.9
Hinks, A.10
Eyre, S.11
Jones, K.W.12
Ollier, W.13
Silman, A.14
Gibson, N.15
Worthington, J.16
Kennedy, G.C.17
-
54
-
-
0021979069
-
Hypervariable "minisatellite", regions in human DNA
-
Jeffreys, A.J., Wilson, V., and Thein, S.L. 1985. Hypervariable "minisatellite" regions in human DNA. Nature 314:67-73.
-
(1985)
Nature
, vol.314
, pp. 67-73
-
-
Jeffreys, A.J.1
Wilson, V.2
Thein, S.L.3
-
55
-
-
0026718827
-
ERBB2 amplification in breast cancer analyzed by fluorescence in situ hybridization
-
Kallioniemi, O.P., Kallioniemi, A., Kurisu, W., Thor, A., Chen, L.C., Smith, H.S., Waldman, F.M., Pinkel, D., and Gray, J.W. 1992. ERBB2 amplification in breast cancer analyzed by fluorescence in situ hybridization. Proc. Natl. Acad. Sci. U.S.A. 89:5321-5325.
-
(1992)
Proc. Natl. Acad. Sci. U.S.A.
, vol.89
, pp. 5321-5325
-
-
Kallioniemi, O.P.1
Kallioniemi, A.2
Kurisu, W.3
Thor, A.4
Chen, L.C.5
Smith, H.S.6
Waldman, F.M.7
Pinkel, D.8
Gray, J.W.9
-
56
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem, B., Rommens, J.M., Buchanan, J.A., Markiewicz, D., and Cox, T.K. 1989. Identification of the cystic fibrosis gene: Genetic analysis. Science 245:1073.
-
(1989)
Science
, vol.245
, pp. 1073
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
-
57
-
-
0037102580
-
The human XPC DNA repair gene: Arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function
-
Khan, S.G., Muniz-Medina, V., Shahlavi, T., Baker, C.C., Inui, H., Ueda, T., Emmert, S., Schneider, T.D., and Kraemer, K.H. 2002. The human XPC DNA repair gene: Arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res. 30:3624-3631.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3624-3631
-
-
Khan, S.G.1
Muniz-Medina, V.2
Shahlavi, T.3
Baker, C.C.4
Inui, H.5
Ueda, T.6
Emmert, S.7
Schneider, T.D.8
Kraemer, K.H.9
-
58
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
Klein, R.J., Zeiss, C., Chew, E.Y., Tsai, J.Y., Sackler, R.S., Haynes, C., Henning, A.K., Sangiovanni, J.P., Mane, S.M., Mayne, S.T., Bracken, M.B., Ferris, F.L., Ott, J., Barnstable, C., and Hoh,J.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
Haynes, C.6
Henning, A.K.7
Sangiovanni, J.P.8
Mane, S.M.9
Mayne, S.T.10
Bracken, M.B.11
Ferris, F.L.12
Ott, J.13
Barnstable, C.14
Hoh, J.15
-
59
-
-
0032993434
-
A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria
-
Knight, J.C., Udalova, I., Hill, A.V., Greenwood, B.M., Peshu, N., Marsh, K., and Kwiatkowski, D. 1999. A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria. Nat. Genet. 22:145-150.
-
(1999)
Nat. Genet.
, vol.22
, pp. 145-150
-
-
Knight, J.C.1
Udalova, I.2
Hill, A.V.3
Greenwood, B.M.4
Peshu, N.5
Marsh, K.6
Kwiatkowski, D.7
-
60
-
-
0030861903
-
The use of a genetic map of biallelic markers in linkage studies
-
Kruglyak, L. 1997. The use of a genetic map of biallelic markers in linkage studies. Nat. Genet. 17:21-24.
-
(1997)
Nat. Genet.
, vol.17
, pp. 21-24
-
-
Kruglyak, L.1
-
61
-
-
0033039497
-
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
-
Kruglyak, L. 1999. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat. Genet. 22:139.
-
(1999)
Nat. Genet.
, vol.22
, pp. 139
-
-
Kruglyak, L.1
-
62
-
-
28444499033
-
Power tools for human genetics
-
Kruglyak, L. 2005. Power tools for human genetics. Nat. Genet. 37:1299-1300.
-
(2005)
Nat. Genet.
, vol.37
, pp. 1299-1300
-
-
Kruglyak, L.1
-
63
-
-
0022444372
-
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
-
Kunkel, L.M., Hejtmancik, J.F., Caskey, C.T., Speer, A., Monaco, A.P., Middlesworth, W., Colletti, C.A., Bertelson, C., Müller, U., Bresnan, M., Shapiro, F., Tantravahi, U., Speer, J., Latt, S.A., Bartlett, R., Pericak-Vance, M.A., Roses, A.D., Thompson, M.W., Ray, P.N., Worton, R.G., Fischbeck, K.H., Gallano, P., Coulon, M., Duros, C., Boue, J., Junien, C., Chelly, J., Hamard, G., Jeanpierre, M., Lambert, M., Kaplan, J.C., Emery, A., Dorkins, H., McGlade, S., Davies, K.E., Boehm, C., Arveiler, B., Lemaire, C., Morgan, G.J., Denton, M.J., Amos, J., Bobrow, M., Benham, F., Boswinkel, E., Cole, C., Dubowitz, V., Hart, K., Hodgson, S., Johnson, L., Walker, A., Roncuzzi, L., Ferlini, A., Nobile, C., Romeo, G., Wilcox, D.E., Affara, N.A., Ferguson-Smith, M.A., Lindolf, M., Kaariainen, H., de la Chapelle, A., Ionas-escu, V., Searby, C., Ionasescu, R., Bakker, E., van Ommen, G.J., Pearson, P.L., Greenberg, C.R., Hamerton, J.L., Wrogemann, K., Doherty, R.A., Polakowska, R., Hyser, C., Quirk, S., Thomas, N., Harper, J.F., Darras, B.T., and Francke, U. 1986. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322:73-77.
-
(1986)
Nature
, vol.322
, pp. 73-77
-
-
Kunkel, L.M.1
Hejtmancik, J.F.2
Caskey, C.T.3
Speer, A.4
Monaco, A.P.5
Middlesworth, W.6
Colletti, C.A.7
Bertelson, C.8
Müller, U.9
Bresnan, M.10
Shapiro, F.11
Tantravahi, U.12
Speer, J.13
Latt, S.A.14
Bartlett, R.15
Pericak-Vance, M.A.16
Roses, A.D.17
Thompson, M.W.18
Ray, P.N.19
Worton, R.G.20
Fischbeck, K.H.21
Gallano, P.22
Coulon, M.23
Duros, C.24
Boue, J.25
Junien, C.26
Chelly, J.27
Hamard, G.28
Jeanpierre, M.29
Lambert, M.30
Kaplan, J.C.31
Emery, A.32
Dorkins, H.33
McGlade, S.34
Davies, K.E.35
Boehm, C.36
Arveiler, B.37
Lemaire, C.38
Morgan, G.J.39
Denton, M.J.40
Amos, J.41
Bobrow, M.42
Benham, F.43
Boswinkel, E.44
Cole, C.45
Dubowitz, V.46
Hart, K.47
Hodgson, S.48
Johnson, L.49
Walker, A.50
Roncuzzi, L.51
Ferlini, A.52
Nobile, C.53
Romeo, G.54
Wilcox, D.E.55
Affara, N.A.56
Ferguson-Smith, M.A.57
Lindolf, M.58
Kaariainen, H.59
de la Chapelle, A.60
Ionasescu, V.61
Searby, C.62
Ionasescu, R.63
Bakker, E.64
van Ommen, G.J.65
Pearson, P.L.66
Greenberg, C.R.67
Greenberg, C.R.68
Hamerton, J.L.69
Wrogemann, K.70
Doherty, R.A.71
Polakowska, R.72
Hyser, C.73
Quirk, S.74
Thomas, N.75
Harper, J.F.76
Darras, B.T.77
Francke, U.78
more..
-
64
-
-
0026094183
-
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization
-
Kuwano, A., Ledbetter, S., Dobyns, W., Emanuel, B., and Ledbetter, D. 1991. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am. J. Hum. Genet. 49:707-714.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 707-714
-
-
Kuwano, A.1
Ledbetter, S.2
Dobyns, W.3
Emanuel, B.4
Ledbetter, D.5
-
65
-
-
0037315428
-
Whole genome analysis of genetic alterations in small DNA samples using hyperbranched strand displacement amplification and array-CGH
-
Lage, J.M., Leamon, J.H., Pejovic, T., Hamann, S., Lacey, M., Dillon, D., Segraves, R., Vossbrinck, B., Gonzalez, A., Pinkel, D., Albertson, D.G., Costa, J., andLizardi,P.M. 2003.Whole genome analysis of genetic alterations in small DNA samples using hyperbranched strand displacement amplification and array-CGH. Genome Res. 13:294-307.
-
(2003)
Genome Res
, vol.13
, pp. 294-307
-
-
Lage, J.M.1
Leamon, J.H.2
Pejovic, T.3
Hamann, S.4
Lacey, M.5
Dillon, D.6
Segraves, R.7
Vossbrinck, B.8
Gonzalez, A.9
Pinkel, D.10
Albertson, D.G.11
Costa, J.12
Lizardi, P.M.13
-
66
-
-
0029805706
-
The new genomics: Global views of biology
-
Lander, E.S. 1996. The new genomics: Global views of biology. Science 274:536.
-
(1996)
Science
, vol.274
, pp. 536
-
-
Lander, E.S.1
-
67
-
-
65549130980
-
Genomic DNA amplification by the multiple displacement amplification (MDA) method
-
Lasken, R.S. 2009a. Genomic DNA amplification by the multiple displacement amplification (MDA) method. Biochem. Soc. Trans. 37:450-453.
-
(2009)
Biochem. Soc. Trans.
, vol.37
, pp. 450-453
-
-
Lasken, R.S.1
-
68
-
-
65549130980
-
Genomic DNA amplification by the multiple displacement amplification (MDA) method
-
Lasken, R.S. 2009b. Genomic DNA amplification by the multiple displacement amplification (MDA) method. Biochem. Soc. Trans. 37:450-453.
-
(2009)
Biochem. Soc. Trans.
, vol.37
, pp. 450-453
-
-
Lasken, R.S.1
-
69
-
-
0023959730
-
A mapped set of genetic markers for human chromosome 10
-
Lathrop, M., Nakamura, Y., O'Connell, P., Leppert, M., Jones, C., Tateishi, H., Bragg, T., Lalouel, J., and White, R. 1988. A mapped set of genetic markers for human chromosome 10. Genomics 2:157-164.
-
(1988)
Genomics
, vol.2
, pp. 157-164
-
-
Lathrop, M.1
Nakamura, Y.2
O'Connell, P.3
Leppert, M.4
Jones, C.5
Tateishi, H.6
Bragg, T.7
Lalouel, J.8
White, R.9
-
70
-
-
6344267228
-
Pattern of sequence variation across 213 environmental response genes
-
Livingston, R.J., von Niederhausern, A., Jegga, A., Crawford, D.C., and Carlson, C.S. 2004. Pattern of sequence variation across 213 environmental response genes. Genome Res. 14:1821.
-
(2004)
Genome Res
, vol.14
, pp. 1821
-
-
Livingston, R.J.1
von Niederhausern, A.2
Jegga, A.3
Crawford, D.C.4
Carlson, C.S.5
-
71
-
-
0024514081
-
A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle action gene
-
Litt, M. and Luty, J.A. 1989. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle action 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
-
72
-
-
0642273268
-
Quantitative evaluation by minisequencing and mi-croarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA
-
Lovmar, L., Fredriksson, M., Lilijedahl, U., Sigurdsson, S., and Syvänen, A.C. 2003. Quantitative evaluation by minisequencing and mi-croarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA. Nucleic Acids Res. 31:e129.
-
(2003)
Nucleic Acids Res
, vol.31
-
-
Lovmar, L.1
Fredriksson, M.2
Lilijedahl, U.3
Sigurdsson, S.4
Syvänen, A.C.5
-
73
-
-
0033674221
-
Detecting gene copy number fluctuations in tumor cells by microarray analysis of genomic representations
-
Lucito, R., West, J., Reiner, A., Alexander, J., Esposito, D., Mishra, B., Powers, S., Norton, L., and Wigler, M. 2000. Detecting gene copy number fluctuations in tumor cells by microarray analysis of genomic representations. Genome Res. 10:1726-1736.
-
(2000)
Genome Res
, vol.10
, pp. 1726-1736
-
-
Lucito, R.1
West, J.2
Reiner, A.3
Alexander, J.4
Esposito, D.5
Mishra, B.6
Powers, S.7
Norton, L.8
Wigler, M.9
-
74
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski, J.R., de Oca-Luna, R.M., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B.J., Saucedo-Cardenas, O., Barker, D.F., Killian, J.M., Garcia, C.A., Chakravarti, A., and Patel, P.I. 1991. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232.
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
de Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Garcia, C.A.10
Chakravarti, A.11
Patel, P.I.12
-
75
-
-
0033574303
-
Drug firms to create public database of genetic mutations
-
Marshall, E. 1999. Drug firms to create public database of genetic mutations. Science 284:406-407.
-
(1999)
Science
, vol.284
, pp. 406-407
-
-
Marshall, E.1
-
76
-
-
0041488881
-
A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set
-
Matise, T.C., Sachidanandam, R., Clark, A.G., Kruglyak, L., Wijsman, E., Kakol, J., Buyske, S., Chui, B., Cohen, P., de Toma, C., Ehm, M., Glanowski, S., He, C., Heil, J., Markianos, K., McMullen, I., Pericak-Vance, M.A., Silbergleit, A., Stein, L., Wagner, M., Wilson, A.F., Winick, J.D., Winn-Deen, E.S., Yamashiro, C.T., Cann, H.M., Lai, E., and Holden, A.L. 2003. A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am. J. Hum. Genet. 73:271-284.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 271-284
-
-
Matise, T.C.1
Sachidanandam, R.2
Clark, A.G.3
Kruglyak, L.4
Wijsman, E.5
Kakol, J.6
Buyske, S.7
Chui, B.8
Cohen, P.9
de Toma, C.10
Ehm, M.11
Glanowski, S.12
He, C.13
Heil, J.14
Markianos, K.15
McMullen, I.16
Pericak-Vance, M.A.17
Silbergleit, A.18
Stein, L.19
Wagner, M.20
Wilson, A.F.21
Winick, J.D.22
Winn-Deen, E.S.23
Yamashiro, C.T.24
Cann, H.M.25
Lai, E.26
Holden, A.L.27
more..
-
77
-
-
20844455582
-
Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays
-
Matsuzaki, H., Dong, S., Loi, H., Di, X., Liu, G., Hubbell, E., Law, J., Berntsen, T., Chadha, M., Hui, H., Yang, G., Kennedy, G.C., Webster, T.A., Cawley, S., Walsh, P.S., Jones, K.W., Fodor, S.P., and Mei, R. 2004a. Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat. Methods 1:109-111.
-
(2004)
Nat. Methods
, vol.1
, pp. 109-111
-
-
Matsuzaki, H.1
Dong, S.2
Loi, H.3
Di, X.4
Liu, G.5
Hubbell, E.6
Law, J.7
Berntsen, T.8
Chadha, M.9
Hui, H.10
Yang, G.11
Kennedy, G.C.12
Webster, T.A.13
Cawley, S.14
Walsh, P.S.15
Jones, K.W.16
Fodor, S.P.17
Mei, R.18
-
78
-
-
12144286180
-
Parallel geno-typing of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array
-
Matsuzaki, H., Loi, H., Dong, S., Tsai, Y.Y., Fang, J., Law, J., Di, X., Liu, W.M., Yang, G., Liu, G., Huang, J., Kennedy, G.C., Ryder, T.B., Marcus, G.A., Walsh, P.S., Shriver, M.D., Puck, J.M., Jones, K.W., and Mei, R. 2004b. Parallel geno-typing of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res. 14:414-425.
-
(2004)
Genome Res
, vol.14
, pp. 414-425
-
-
Matsuzaki, H.1
Loi, H.2
Dong, S.3
Tsai, Y.Y.4
Fang, J.5
Law, J.6
Di, X.7
Liu, W.M.8
Yang, G.9
Liu, G.10
Huang, J.11
Kennedy, G.C.12
Ryder, T.B.13
Marcus, G.A.14
Walsh, P.S.15
Shriver, M.D.16
Puck, J.M.17
Jones, K.W.18
Mei, R.19
-
79
-
-
0028113345
-
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
-
Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P.A., Harshman, K., Tavtigian, S., Liu, Q., Cochran, C., Bennett, L.M., Ding, W., et al. 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71.
-
(1994)
Science
, vol.266
, pp. 66-71
-
-
Miki, Y.1
Swensen, J.2
Shattuck-Eidens, D.3
Futreal, P.A.4
Harshman, K.5
Tavtigian, S.6
Liu, Q.7
Cochran, C.8
Bennett, L.M.9
Ding, W.10
-
80
-
-
0021863554
-
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment
-
Monaco, A., Bertelson, C., Middlesworth, W., Coletti, C., Aldridge, J., Fischbeck, K., Bartlett, R., Pericak-Vance, M., Roses, A., and Kunkel, L. 1985. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316:842-845.
-
(1985)
Nature
, vol.316
, pp. 842-845
-
-
Monaco, A.1
Bertelson, C.2
Middlesworth, W.3
Coletti, C.4
Aldridge, J.5
Fischbeck, K.6
Bartlett, R.7
Pericak-Vance, M.8
Roses, A.9
Kunkel, L.10
-
81
-
-
17344380534
-
An SNP map of human chromosome 22
-
Mullikin, J.C., Hunt, S.E., Cole, C.G., Mortimore, B.J., Rice, C.M., Burton, J., Matthews, L.H., Pavitt, R., Plumb, R.W., Sims, S.K., Ainscough, R.M., Attwood, J., Bailey, J.M., Barlow, K., Bruskiewich, R.M., Butcher, P.N., Carter, N.P., Chen, Y., Clee, C.M., Coggill, P.C., Davies, J., Davies, R.M., Dawson, E., Francis, M.D., Joy, A.A., Lamble, R.G., Langford, C.F., Macarthy, J., Mall, V., Moreland, A., Overton-Larty, E.K., Ross, M.T., Smith, L.C., Steward, C.A., Sulston, J.E., Tinsley, E.J., Turney, K.J., Willey, D.L., Wilson, G.D., McMurray, A.A., Dunham, I., Rogers, J., and Bentley, D.R. 2000. An SNP map of human chromosome 22. Nature 407:516-520.
-
(2000)
Nature
, vol.407
, pp. 516-520
-
-
Mullikin, J.C.1
Hunt, S.E.2
Cole, C.G.3
Mortimore, B.J.4
Rice, C.M.5
Burton, J.6
Matthews, L.H.7
Pavitt, R.8
Plumb, R.W.9
Sims, S.K.10
Ainscough, R.M.11
Attwood, J.12
Bailey, J.M.13
Barlow, K.14
Bruskiewich, R.M.15
Butcher, P.N.16
Carter, N.P.17
Chen, Y.18
Clee, C.M.19
Coggill, P.C.20
Davies, J.21
Davies, R.M.22
Dawson, E.23
Francis, M.D.24
Joy, A.A.25
Lamble, R.G.26
Langford, C.F.27
Macarthy, J.28
Mall, V.29
Moreland, A.30
Overton-Larty, E.K.31
Ross, M.T.32
Smith, L.C.33
Steward, C.A.34
Sulston, J.E.35
Tinsley, E.J.36
Turney, K.J.37
Willey, D.L.38
Wilson, G.D.39
McMurray, A.A.40
Dunham, I.41
Rogers, J.42
Bentley, D.R.43
more..
-
82
-
-
20844442281
-
A highly informative SNP linkage panel for human genetic studies
-
Murray, S.S., Oliphant, A., Shen, R., McBride, C., Steeke, R.J., Shannon, S.G., Rubano, T., Kermani, B.G., Fan, J.B., Chee, M.S., and Hansen, M.S. 2004. A highly informative SNP linkage panel for human genetic studies. Nat. Methods 1:113-117.
-
(2004)
Nat. Methods
, vol.1
, pp. 113-117
-
-
Murray, S.S.1
Oliphant, A.2
Shen, R.3
McBride, C.4
Steeke, R.J.5
Shannon, S.G.6
Rubano, T.7
Kermani, B.G.8
Fan, J.B.9
Chee, M.S.10
Hansen, M.S.11
-
83
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng, S.B., Buckingham, K.J., Lee, C., Bigham, A.W., Tabor, H.K., Dent, K.M., Huff, C.D., Shannon, P.T., Jabs, E.W., Nickerson, D.A., Shendure, J., and Bamshad, M.J. 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
Shendure, J.11
Bamshad, M.J.12
-
84
-
-
17344364213
-
DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
-
Nickerson, D.A., Taylor, S.L., Weiss, K.M., Clark, A.G., Hutchinson, R.G., Stengard, J., Salomaa, V., Vartiainen, E., Boerwinkle, E., and Sing, C.F. 1998. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat. Genet. 19:233-240.
-
(1998)
Nat. Genet.
, vol.19
, pp. 233-240
-
-
Nickerson, D.A.1
Taylor, S.L.2
Weiss, K.M.3
Clark, A.G.4
Hutchinson, R.G.5
Stengard, J.6
Salomaa, V.7
Vartiainen, E.8
Boerwinkle, E.9
Sing, C.F.10
-
85
-
-
2442646694
-
Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification
-
Paez, J.G., Lin, M., Beroukhim, R., Lee, J.C., Zhao, X., Richter, D.J., Gabriel, S., Herman, P., Sasaki, H., Altshuler, D., Li, C., Meyerson, M., and Sellers, W.R. 2004. Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Res. 32:e71.
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Paez, J.G.1
Lin, M.2
Beroukhim, R.3
Lee, J.C.4
Zhao, X.5
Richter, D.J.6
Gabriel, S.7
Herman, P.8
Sasaki, H.9
Altshuler, D.10
Li, C.11
Meyerson, M.12
Sellers, W.R.13
-
86
-
-
0036667957
-
Implication of alternative splicing for expression of a variant NAD(P)H:quinone oxidoreductase-1 with a single nucleotide polymorphism at 465C>T
-
Pan, S.S., Han, Y., Farabaugh, P., and Xia, H. 2002. Implication of alternative splicing for expression of a variant NAD(P)H:quinone oxidoreductase-1 with a single nucleotide polymorphism at 465C>T. Pharmacogenetics 12:479-488.
-
(2002)
Pharmacogenetics
, vol.12
, pp. 479-488
-
-
Pan, S.S.1
Han, Y.2
Farabaugh, P.3
Xia, H.4
-
87
-
-
0034255677
-
A SNPshot: Pharmacogenetics and the future of drug therapy
-
Pfost, D.R., Boyce-Jacino, M.T., and Grant, D.M. 2000. A SNPshot: Pharmacogenetics and the future of drug therapy. Trends Biotechnol. 18:334-338.
-
(2000)
Trends Biotechnol
, vol.18
, pp. 334-338
-
-
Pfost, D.R.1
Boyce-Jacino, M.T.2
Grant, D.M.3
-
88
-
-
0033015046
-
Mining SNPs from EST databases
-
Picoult-Newberg, L., Ideker, T.E., Pohl, M.G., Taylor, S.L., Donaldson, M.A., Nickerson, D.A., and Boyce-Jacino, M. 1999. Mining SNPs from EST databases. Genome Res. 9:167-174.
-
(1999)
Genome Res
, vol.9
, pp. 167-174
-
-
Picoult-Newberg, L.1
Ideker, T.E.2
Pohl, M.G.3
Taylor, S.L.4
Donaldson, M.A.5
Nickerson, D.A.6
Boyce-Jacino, M.7
-
89
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel, D., Segraves, R., Sudar, D., Clark, S., Poole, I., Kowbel, D., Collins, C., Kuo, W.L., Chen, C., Zhai, Y., Dairkee, S.H., Ljung, B.M., Gray, J.W., and Albertson, D.G. 1998. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat. Genet. 20:207-211.
-
(1998)
Nat. Genet.
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
Clark, S.4
Poole, I.5
Kowbel, D.6
Collins, C.7
Kuo, W.L.8
Chen, C.9
Zhai, Y.10
Dairkee, S.H.11
Ljung, B.M.12
Gray, J.W.13
Albertson, D.G.14
-
90
-
-
0034977045
-
Linkage disequilibrium in humans: Models and data
-
Pritchard, J.K. and Przeworski, M. 2001. Linkage disequilibrium in humans: Models and data. Am. J. Hum. Genet. 69:1.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1
-
-
Pritchard, J.K.1
Przeworski, M.2
-
91
-
-
13444287929
-
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: Contiguous gene deletion or "deletion with positional effect", syndrome?
-
Redon, R., Rio, M., Gregory, S.G., Cooper, R.A., Fiegler, H., Sanlaville, D., Banerjee, R., Scott, C., Carr, P., Langford, C., Cormier-Daire, V., Munnich, A., Carter, N.P., and Colleaux, L. 2005. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: Contiguous gene deletion or "deletion with positional effect" syndrome? J. Med. Genet. 42:166-171.
-
(2005)
J. Med. Genet.
, vol.42
, pp. 166-171
-
-
Redon, R.1
Rio, M.2
Gregory, S.G.3
Cooper, R.A.4
Fiegler, H.5
Sanlaville, D.6
Banerjee, R.7
Scott, C.8
Carr, P.9
Langford, C.10
Cormier-Daire, V.11
Munnich, A.12
Carter, N.P.13
Colleaux, L.14
-
92
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
Riordan, J.R., Rommens, J.M., Kerem, B., Alon, N., and Rozmahel, R. 1989. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245:1066.
-
(1989)
Science
, vol.245
, pp. 1066
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.3
Alon, N.4
Rozmahel, R.5
-
93
-
-
0029741063
-
The future of genetic studies of complex human diseases
-
Risch, N. and Merikangas, K. 1996. The future of genetic studies of complex human diseases. Science 273:1516.
-
(1996)
Science
, vol.273
, pp. 1516
-
-
Risch, N.1
Merikangas, K.2
-
94
-
-
0035865322
-
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
-
Sachidanandam, R., Weissman, D., Schmidt, S.C., Kakol, J.M., and Stein, L.D. 2001. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409:928.
-
(2001)
Nature
, vol.409
, pp. 928
-
-
Sachidanandam, R.1
Weissman, D.2
Schmidt, S.C.3
Kakol, J.M.4
Stein, L.D.5
-
95
-
-
0037447974
-
SNP and haplotype variation in the human genome
-
Salisbury, B., Pungliya, M., Choi, J.Y., Jiang, R., and Sun, J.X. 2003. SNP and haplotype variation in the human genome. Mutat. Res. 526:53.
-
(2003)
Mutat. Res.
, vol.526
, pp. 53
-
-
Salisbury, B.1
Pungliya, M.2
Choi, J.Y.3
Jiang, R.4
Sun, J.X.5
-
96
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Maner, S., Massa, H., Walker, M., Chi, M., Navin, N., Lucito, R., Healy, J., Hicks, J., Ye, K., Reiner, A., Gilliam, T.C., Trask, B., Patterson, N., Zetterberg, A., and Wigler, M. 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
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
97
-
-
0033529188
-
Single-nucleotide polymorphisms can cause different structural folds of mRNA
-
Shen, L.X., Basilion, J.P., and Stanton, V.P. Jr. 1999. Single-nucleotide polymorphisms can cause different structural folds of mRNA. Proc. Natl. Acad. Sci. U.S.A. 96:7871-7876.
-
(1999)
Proc. Natl. Acad. Sci. U.S.A.
, vol.96
, pp. 7871-7876
-
-
Shen, L.X.1
Basilion, J.P.2
Stanton Jr., V.P.3
-
98
-
-
0035173378
-
dbSNP: The NCBI database of genetic variation
-
Sherry, S.T., Ward, M.H., Kholodov, M., Baker, J., Phan, L., Smigielski, E.M., Sirotkin, K. 2001. dbSNP: The NCBI database of genetic variation. Nucleic Acids Res. 29:308-311.
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
99
-
-
84934435503
-
Whole genome amplification with Phi29 DNA polymerase to enable genetic or genomic analysis of samples of low DNA yield. Methods Mol
-
Silander, K. and Saarela, J. 2008. Whole genome amplification with Phi29 DNA polymerase to enable genetic or genomic analysis of samples of low DNA yield. Methods Mol. Biol. 439:1-18.
-
(2008)
Biol
, vol.439
, pp. 1-18
-
-
Silander, K.1
Saarela, J.2
-
100
-
-
0033957472
-
dbSNP: A database of single nucleotide polymorphisms
-
Smigielski, E.M., Sirotkin, K., Ward, M., and Sherry, S.T. 2000. dbSNP: A database of single nucleotide polymorphisms. Nucl. Acids Res. 28:352-355.
-
(2000)
Nucl. Acids Res.
, vol.28
, pp. 352-355
-
-
Smigielski, E.M.1
Sirotkin, K.2
Ward, M.3
Sherry, S.T.4
-
101
-
-
0037903275
-
Human Gene Mutation Database (HGMD): 2003 update
-
Stenson, P.D., Ball, E.V., Mort, M., Phillips, A.D., Sheil, J.A., Thomas, N.S., Abeysinghe, S., Krawczak, M., and Cooper, D.N. 2003. Human Gene Mutation Database (HGMD): 2003 update. Hum. Mutat. 21:577-581.
-
(2003)
Hum. Mutat.
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
Phillips, A.D.4
Sheil, J.A.5
Thomas, N.S.6
Abeysinghe, S.7
Krawczak, M.8
Cooper, D.N.9
-
102
-
-
0035919656
-
Haplotype variation and linkage disequilibrium in 313 human genes
-
Stephens, J.C., Schneider, J.A., Tanguay, D.A., Choi, J., and Acharya, T. 2001. Haplotype variation and linkage disequilibrium in 313 human genes. Science 293:489.
-
(2001)
Science
, vol.293
, pp. 489
-
-
Stephens, J.C.1
Schneider, J.A.2
Tanguay, D.A.3
Choi, J.4
Acharya, T.5
-
103
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev, S., Ramensky, V., Koch, I., Lathe, W. 3rd, Kondrashov, A.S., and Bork, P. 2001. Prediction of deleterious human alleles. Hum. Mol. Genet. 10:591-597.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe 3rd, W.4
Kondrashov, A.S.5
Bork, P.6
-
104
-
-
0031669184
-
Overlapping ge-nomic sequences: A treasure trove of single-nucleotide polymorphisms
-
Taillon-Miller, P., Gu, Z., Li, Q., Hillier, L., and Kwok, P.Y. 1998. Overlapping ge-nomic sequences: A treasure trove of single-nucleotide polymorphisms. Genome Res. 8:748-754.
-
(1998)
Genome Res
, vol.8
, pp. 748-754
-
-
Taillon-Miller, P.1
Gu, Z.2
Li, Q.3
Hillier, L.4
Kwok, P.Y.5
-
105
-
-
0030029970
-
A pre-Columbian Y-chromosome-specific transition and its implications for human evolutionary history
-
Underhill, P., Jin, L., Zemans, R., Oefner, P., and Cavalli-Sforza, L. 1996. A pre-Columbian Y-chromosome-specific transition and its implications for human evolutionary history. Proc. Natl. Acad. Sci. U.S.A. 93:196-200.
-
(1996)
Proc. Natl. Acad. Sci. U.S.A.
, vol.93
, pp. 196-200
-
-
Underhill, P.1
Jin, L.2
Zemans, R.3
Oefner, P.4
Cavalli-Sforza, L.5
-
106
-
-
0030660620
-
Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatog-raphy
-
Underhill, P., Jin, L., Lin, A., Mehdi, Q., Jenkins, T., Vollrath, D., Davis, R., Cavalli-Sforza, L.L., and Oefner, P. 1997. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatog-raphy. Genome Res. 7:996-1005.
-
(1997)
Genome Res
, vol.7
, pp. 996-1005
-
-
Underhill, P.1
Jin, L.2
Lin, A.3
Mehdi, Q.4
Jenkins, T.5
Vollrath, D.6
Davis, R.7
Cavalli-Sforza, L.L.8
Oefner, P.9
-
107
-
-
50449085212
-
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations
-
Unoki, H., Takahashi, A., Kawaguchi, T., Hara, K., Horikoshi, M., Andersen, G., Ng, D.P.K., Holmkvist, J., Borch-Johnsen, K., Jorgensen, T., Sandbaek, A., Lauritzen, T., Hansen, T., Nurbaya, S., Tsunoda, T., Kubo, M., Babazono, T., Hirose, H., Hayashi, M., Iwamoto, Y., Kashiwagi, A., Kaku, K., Kawamori, R., Tai, E.S., Pedersen, O., Kamatani, N., Kadowaki, T., Kikkawa, R., Nakamura, Y., and Maeda, S. 2008. SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat. Genet. 40:1098-1102.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1098-1102
-
-
Unoki, H.1
Takahashi, A.2
Kawaguchi, T.3
Hara, K.4
Horikoshi, M.5
Andersen, G.6
Ng, D.P.K.7
Holmkvist, J.8
Borch-Johnsen, K.9
Jorgensen, T.10
Sandbaek, A.11
Lauritzen, T.12
Hansen, T.13
Nurbaya, S.14
Tsunoda, T.15
Kubo, M.16
Babazono, T.17
Hirose, H.18
Hayashi, M.19
Iwamoto, Y.20
Kashiwagi, A.21
Kaku, K.22
Kawamori, R.23
Tai, E.S.24
Pedersen, O.25
Kamatani, N.26
Kadowaki, T.27
Kikkawa, R.28
Nakamura, Y.29
Maeda, S.30
more..
-
108
-
-
0037905690
-
Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumors
-
Veltman, J.A., Fridlyand, J., Pejavar, S., Olshen, A.B., Korkola, J.E., DeVries, S., Carroll, P., Kuo, W.L., Pinkel, D., Albertson, D., Cordon-Cardo, C., Jain, A.N., and Waldman, F.M. 2003a. Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumors. Cancer Res. 63:2872-2880.
-
(2003)
Cancer Res
, vol.63
, pp. 2872-2880
-
-
Veltman, J.A.1
Fridlyand, J.2
Pejavar, S.3
Olshen, A.B.4
Korkola, J.E.5
Devries, S.6
Carroll, P.7
Kuo, W.L.8
Pinkel, D.9
Albertson, D.10
Cordon-Cardo, C.11
Jain, A.N.12
Waldman, F.M.13
-
109
-
-
0037677609
-
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH
-
Veltman, J.A., Jonkers, Y., Nuijten, I., Janssen, I., van der Vliet, W., Huys, E., Vermeesch, J., Van Buggenhout, G., Fryns, J.P., Admiraal, R., Terhal, P., Lacombe, D., Van Kessel, A.G., Smeets, D., Schoenmakers, E.F., and Ravenswaaij-Arts, C.M. 2003b. Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am. J. Hum. Genet. 72:1578-1584.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1578-1584
-
-
Veltman, J.A.1
Jonkers, Y.2
Nuijten, I.3
Janssen, I.4
van der Vliet, W.5
Huys, E.6
Vermeesch, J.7
Van Buggenhout, G.8
Fryns, J.P.9
Admiraal, R.10
Terhal, P.11
Lacombe, D.12
Van Kessel, A.G.13
Smeets, D.14
Schoenmakers, E.F.15
Ravenswaaij-Arts, C.M.16
-
110
-
-
0025297599
-
Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
-
Wallace, M.R., Marchuk, D.A., Andersen, L.B., Letcher, R., Odeh, H.M., Saulino, A.M., Fountain, J.W., Brereton, A., Nicholson, J., Mitchell, A.L., Brownstein, B.H., and Collins, F.S. 1990. Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients. Science 249:181-186.
-
(1990)
Science
, vol.249
, pp. 181-186
-
-
Wallace, M.R.1
Marchuk, D.A.2
Andersen, L.B.3
Letcher, R.4
Odeh, H.M.5
Saulino, A.M.6
Fountain, J.W.7
Brereton, A.8
Nicholson, J.9
Mitchell, A.L.10
Brownstein, B.H.11
Collins, F.S.12
-
111
-
-
0035065485
-
SNPs, protein structure, and disease
-
Wang, Z. and Moult, J. 2001. SNPs, protein structure, and disease. Hum. Mutat. 17:263-270.
-
(2001)
Hum. Mutat.
, vol.17
, pp. 263-270
-
-
Wang, Z.1
Moult, J.2
-
112
-
-
0032524383
-
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
-
Wang, D., Fan, J-B., Siao, C-J., Berno, A., Young, P., Sapolsky, R., Ghandor, G., Perkins, N., Winchester, E., Spencer, J., Kruglyak, L., Stein, L., Hsie, L., Topaloglou, T., Hubbell, E., Robinson, E., Mittmann, M., Morris, M., Shen, N., Kilburn, D., Rioux, J., Nusbaum, C., Rozen, S., Hudson, T., Lipshutz, R., Chee, M., and Lander, E. 1998. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280:1077-1082.
-
(1998)
Science
, vol.280
, pp. 1077-1082
-
-
Wang, D.1
Fan, J.-B.2
Siao, C.-J.3
Berno, A.4
Young, P.5
Sapolsky, R.6
Ghandor, G.7
Perkins, N.8
Winchester, E.9
Spencer, J.10
Kruglyak, L.11
Stein, L.12
Hsie, L.13
Topaloglou, T.14
Hubbell, E.15
Robinson, E.16
Mittmann, M.17
Morris, M.18
Shen, N.19
Kilburn, D.20
Rioux, J.21
Nusbaum, C.22
Rozen, S.23
Hudson, T.24
Lipshutz, R.25
Chee, M.26
Lander, E.27
more..
-
113
-
-
57749195712
-
RNA-Seq: A revolutionary tool for transcriptomics
-
Wang, Z., Gerstein, M., and Snyder,M.2009. RNA-Seq: A revolutionary tool for transcriptomics. Nat. Rev. Genet. 10:57-63.
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 57-63
-
-
Wang, Z.1
Gerstein, M.2
Snyder, M.3
-
114
-
-
21444450506
-
SNPLINK: Multipoint linkage analysis of densely distributed SNP data incorporating automated linkage disequilibrium removal
-
Webb, E.L., Sellick, G.S., and Houlston, R.S. 2005. SNPLINK: Multipoint linkage analysis of densely distributed SNP data incorporating automated linkage disequilibrium removal. Bioinformatics 21:3060-3061.
-
(2005)
Bioinformatics
, vol.21
, pp. 3060-3061
-
-
Webb, E.L.1
Sellick, G.S.2
Houlston, R.S.3
-
115
-
-
0000197075
-
Human DNA polymorphisms based on length variations in simple-sequence tandem repeats
-
In Genomic Analysis, : Genetic and Physical Mapping. (K. Davies, ed.). Cold Spring Harbor, N.Y.
-
Weber, J.L. 1990. Human DNA polymorphisms based on length variations in simple-sequence tandem repeats. In Genomic Analysis, Vol. 1: Genetic and Physical Mapping. (K. Davies, ed.) pp. 159-181. Cold Spring Harbor Laboratory, Cold Spring Harbor, N.Y.
-
(1990)
Cold Spring Harbor Laboratory
, vol.1
, pp. 159-181
-
-
Weber, J.L.1
-
116
-
-
0024582686
-
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
-
Weber, J.L. and May, P.E. 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
-
117
-
-
0035228946
-
Genotyping for human whole-genome scans: Past, present, and future
-
Weber, J.L. and Broman, K.W. 2001. Genotyping for human whole-genome scans: Past, present, and future. Adv. Genet. 42:77-96.
-
(2001)
Adv. Genet.
, vol.42
, pp. 77-96
-
-
Weber, J.L.1
Broman, K.W.2
-
118
-
-
0021969053
-
Construction of linkage maps with DNA markers for human chromosomes
-
White, R., Leppert, M., Bishop, T., Barker, D., Berkowitz, J., Brown, C., Callahan, P., Holm, T., and Jerominski, L. 1985. Construction of linkage maps with DNA markers for human chromosomes. Nature 313:101-105.
-
(1985)
Nature
, vol.313
, pp. 101-105
-
-
White, R.1
Leppert, M.2
Bishop, T.3
Barker, D.4
Berkowitz, J.5
Brown, C.6
Callahan, P.7
Holm, T.8
Jerominski, L.9
-
119
-
-
0033926575
-
Equivalence of single- and multilocus markers: Power to detect linkage with composite markers derived from Biallelic Loci
-
Wilson, A.F. and Sorant, A.J.M. 2000. Equivalence of single- and multilocus markers: Power to detect linkage with composite markers derived from Biallelic Loci. Am. J. Hum. Genet. 66:1610-1615.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1610-1615
-
-
Wilson, A.F.1
Sorant, A.J.M.2
-
120
-
-
0021253369
-
Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes
-
Worton, R.G., Duff, C., Sylvester, J.E., Schmickel, R.D., and Willard, H.F. 1984. Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science 224:1447-1449.
-
(1984)
Science
, vol.224
, pp. 1447-1449
-
-
Worton, R.G.1
Duff, C.2
Sylvester, J.E.3
Schmickel, R.D.4
Willard, H.F.5
-
121
-
-
0028006563
-
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13
-
Wooster, R., Neuhausen, S.L., Mangion, J., Quirk, Y., Ford, D., Collins, N., Nguyen, K., Seal, S., Tran, T., Averill, D., et al. 1994. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265:2088-2090.
-
(1994)
Science
, vol.265
, pp. 2088-2090
-
-
Wooster, R.1
Neuhausen, S.L.2
Mangion, J.3
Quirk, Y.4
Ford, D.5
Collins, N.6
Nguyen, K.7
Seal, S.8
Tran, T.9
Averill, D.10
-
122
-
-
0006713602
-
Identification of the breast cancer susceptibility gene BRCA2
-
Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J., Collins, N., Gregory, S., Gumbs, C., Micklem, G., Barfoot, R., Hamoudi, R., Patel, S., Rices, C., Biggs, P., Hashim, Y., Smith, A., Connor, F., Arason, A., Gudmundsson, J., Ficenec, D., Kelsell, D., Ford, T., Timothy Bishop, D., Spurr, N.K., Ponder, B.A.J., Eeles, R., Peto, J., Devilee, P., Cornelisse, C., Lynch, H., Narod, S., Lenoir, G., Egilsson, V., Bjork Barkadottir, R., Easton, D.F., Bentley, D.R., Futreal, P.A., Ashworth, A., and Stratton, M.R. 1995. Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792.
-
(1995)
Nature
, vol.378
, pp. 789-792
-
-
Wooster, R.1
Bignell, G.2
Lancaster, J.3
Swift, S.4
Seal, S.5
Mangion, J.6
Collins, N.7
Gregory, S.8
Gumbs, C.9
Micklem, G.10
Barfoot, R.11
Hamoudi, R.12
Patel, S.13
Rices, C.14
Biggs, P.15
Hashim, Y.16
Smith, A.17
Connor, F.18
Arason, A.19
Gudmundsson, J.20
Ficenec, D.21
Kelsell, D.22
Ford, T.23
Timothy Bishop, D.24
Spurr, N.K.25
Ponder, B.A.J.26
Eeles, R.27
Peto, J.28
Devilee, P.29
Cornelisse, C.30
Lynch, H.31
Narod, S.32
Lenoir, G.33
Egilsson, V.34
Bjork Barkadottir, R.35
Easton, D.F.36
Bentley, D.R.37
Futreal, P.A.38
Ashworth, A.39
Stratton, M.R.40
more..
-
123
-
-
50449085998
-
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus
-
Yasuda, K., Miyake, K., Horikawa, Y., Hara, K., Osawa, H., Furuta, H., Hirota, Y., Mori, H., Jonsson, A., Sato, Y., Yamagata, K., Hinokio, Y., Wang, H.Y., Tanahashi, T., Nakamura, N., Oka, Y., Iwasaki, N., Iwamoto, Y., Yamada, Y., Seino, Y., Maegawa, H., Kashiwagi, A., Takeda, J., Maeda, E., Shin, H.D., Cho, Y.M., Park, K.S., Lee, H.K., Ng, M.C.Y., Ma, R.C.W., So, W.Y., Chan, J.C.N., Lyssenko, V., Tuomi, T., Nilsson, P., Groop, L., Kamatani, N., Sekine, A., Nakamura, Y., Yamamoto, K., Yoshida, T., Tokunaga, K., Itakura, M., Makino, H., Nanjo, K., Kadowaki, T., and Kasuga, M. 2008. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat. Genet. 40:1092-1097.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1092-1097
-
-
Yasuda, K.1
Miyake, K.2
Horikawa, Y.3
Hara, K.4
Osawa, H.5
Furuta, H.6
Hirota, Y.7
Mori, H.8
Jonsson, A.9
Sato, Y.10
Yamagata, K.11
Hinokio, Y.12
Wang, H.Y.13
Tanahashi, T.14
Nakamura, N.15
Oka, Y.16
Iwasaki, N.17
Iwamoto, Y.18
Yamada, Y.19
Seino, Y.20
Maegawa, H.21
Kashiwagi, A.22
Takeda, J.23
Maeda, E.24
Shin, H.D.25
Cho, Y.M.26
Park, K.S.27
Lee, H.K.28
Ng, M.C.Y.29
Ma, R.C.W.30
So, W.Y.31
Chan, J.C.N.32
Lyssenko, V.33
Tuomi, T.34
Nilsson, P.35
Groop, L.36
Kamatani, N.37
Sekine, A.38
Nakamura, Y.39
Yamamoto, K.40
Yoshida, T.41
Tokunaga, K.42
Itakura, M.43
Makino, H.44
Nanjo, K.45
Kadowaki, T.46
Kasuga, M.47
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-
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-
-
38649091333
-
A navigator for human genome epidemiology
-
Yu, W., Gwinn, M., Clyne, M., Yesupriya, A., and Khoury, M.J. 2008. A navigator for human genome epidemiology. Nat. Genet. 40:124-125.
-
(2008)
Nat. Genet.
, vol.40
, pp. 124-125
-
-
Yu, W.1
Gwinn, M.2
Clyne, M.3
Yesupriya, A.4
Khoury, M.J.5
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