-
1
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
10.1038/ng1416, 15286789
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, et al. Detection of large-scale variation in the human genome. Nat Genet 2004, 36:949-951. 10.1038/ng1416, 15286789.
-
(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
-
2
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
10.1126/science.1098918, 15273396
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, et al. Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528. 10.1126/science.1098918, 15273396.
-
(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
-
3
-
-
33751329250
-
Global variation in copy number in the human genome
-
10.1038/nature05329, 2669898, 17122850
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. Global variation in copy number in the human genome. Nature 2006, 444:444-454. 10.1038/nature05329, 2669898, 17122850.
-
(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
-
4
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
10.1038/nature08516, 19812545
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, et al. Origins and functional impact of copy number variation in the human genome. Nature 2010, 464:704-712. 10.1038/nature08516, 19812545.
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
-
5
-
-
31144469134
-
Structural variation in the human genome
-
10.1038/nrg1767, 16418744
-
Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 2006, 7:85-97. 10.1038/nrg1767, 16418744.
-
(2006)
Nat Rev Genet
, vol.7
, pp. 85-97
-
-
Feuk, L.1
Carson, A.R.2
Scherer, S.W.3
-
6
-
-
34447569298
-
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
-
10.1038/nrg2149, 17637735
-
Beckmann JS, Estivill X, Antonarakis SE. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet 2007, 8:639-646. 10.1038/nrg2149, 17637735.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 639-646
-
-
Beckmann, J.S.1
Estivill, X.2
Antonarakis, S.E.3
-
7
-
-
77952690350
-
The clinical context of copy number variation in the human genome
-
10.1017/S1462399410001390, 20211047
-
Lee C, Scherer SW. The clinical context of copy number variation in the human genome. Expert Rev Mol Med 2010, 12:e8. 10.1017/S1462399410001390, 20211047.
-
(2010)
Expert Rev Mol Med
, vol.12
-
-
Lee, C.1
Scherer, S.W.2
-
8
-
-
35648976118
-
The diploid genome sequence of an individual human
-
10.1371/journal.pbio.0050254, 1964779, 17803354
-
Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, et al. The diploid genome sequence of an individual human. PLoS Biol 2007, 5:e254. 10.1371/journal.pbio.0050254, 1964779, 17803354.
-
(2007)
PLoS Biol
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
Walenz, B.P.6
-
9
-
-
77952296952
-
Towards a comprehensive structural variation map of an individual human genome
-
10.1186/gb-2010-11-5-r52, 2898065, 20482838
-
Pang AW, Macdonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, et al. Towards a comprehensive structural variation map of an individual human genome. Genome Biol 2010, 11:R52. 10.1186/gb-2010-11-5-r52, 2898065, 20482838.
-
(2010)
Genome Biol
, vol.11
-
-
Pang, A.W.1
Macdonald, J.R.2
Pinto, D.3
Wei, J.4
Rafiq, M.A.5
Conrad, D.F.6
-
10
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
10.1038/ng1696, 16468122
-
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, et al. Common deletion polymorphisms in the human genome. Nat Genet 2006, 38:86-92. 10.1038/ng1696, 16468122.
-
(2006)
Nat Genet
, vol.38
, 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
-
11
-
-
0033360995
-
When less is more: gene loss as an engine of evolutionary change
-
10.1086/302219, 1377697, 9915938
-
Olson MV. When less is more: gene loss as an engine of evolutionary change. Am J Hum Genet 1999, 64:18-23. 10.1086/302219, 1377697, 9915938.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 18-23
-
-
Olson, M.V.1
-
12
-
-
33644980516
-
Gene losses during human origins
-
10.1371/journal.pbio.0040052, 1361800, 16464126
-
Wang X, Grus WE, Zhang J. Gene losses during human origins. PLoS Biol 2006, 4:e52. 10.1371/journal.pbio.0040052, 1361800, 16464126.
-
(2006)
PLoS Biol
, vol.4
-
-
Wang, X.1
Grus, W.E.2
Zhang, J.3
-
13
-
-
0029001881
-
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals
-
10.1038/ng0695-224, 7663520
-
Tournamille C, Colin Y, Cartron JP, Le Van KC. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat Genet 1995, 10:224-228. 10.1038/ng0695-224, 7663520.
-
(1995)
Nat Genet
, vol.10
, pp. 224-228
-
-
Tournamille, C.1
Colin, Y.2
Cartron, J.P.3
Le Van, K.C.4
-
14
-
-
16044373004
-
Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene
-
10.1038/382722a0, 8751444
-
Samson M, Libert F, Doranz BJ, Rucker J, Liesnard C, Farber CM, et al. Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature 1996, 382:722-725. 10.1038/382722a0, 8751444.
-
(1996)
Nature
, vol.382
, pp. 722-725
-
-
Samson, M.1
Libert, F.2
Doranz, B.J.3
Rucker, J.4
Liesnard, C.5
Farber, C.M.6
-
15
-
-
8244227329
-
Inherited resistance to HIV-1 conferred by an inactivating mutation in CC chemokine receptor 5: studies in populations with contrasting clinical phenotypes, defined racial background, and quantified risk
-
2230106, 9132277
-
Zimmerman PA, Buckler-White A, Alkhatib G, Spalding T, Kubofcik J, Combadiere C, et al. Inherited resistance to HIV-1 conferred by an inactivating mutation in CC chemokine receptor 5: studies in populations with contrasting clinical phenotypes, defined racial background, and quantified risk. Mol Med 1997, 3:23-36. 2230106, 9132277.
-
(1997)
Mol Med
, vol.3
, pp. 23-36
-
-
Zimmerman, P.A.1
Buckler-White, A.2
Alkhatib, G.3
Spalding, T.4
Kubofcik, J.5
Combadiere, C.6
-
16
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
10.1016/j.ajhg.2007.12.009, 2426913, 18252227
-
Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008, 82:477-488. 10.1016/j.ajhg.2007.12.009, 2426913, 18252227.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
Lionel, A.C.4
Feuk, L.5
Skaug, J.6
-
17
-
-
35448992970
-
Germ-line DNA copy number variation frequencies in a large North American population
-
10.1007/s00439-007-0404-5, 17638019
-
Zogopoulos G, Ha KC, Naqib F, Moore S, Kim H, Montpetit A, et al. Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet 2007, 122:345-353. 10.1007/s00439-007-0404-5, 17638019.
-
(2007)
Hum Genet
, vol.122
, pp. 345-353
-
-
Zogopoulos, G.1
Ha, K.C.2
Naqib, F.3
Moore, S.4
Kim, H.5
Montpetit, A.6
-
18
-
-
33344470090
-
PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships
-
10.1159/000090694, 16490960
-
Krawczak M, Nikolaus S, von Eberstein H, Croucher PJ, El Mokhtari NE, Schreiber S. PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships. Community Genet 2006, 9:55-61. 10.1159/000090694, 16490960.
-
(2006)
Community Genet
, vol.9
, pp. 55-61
-
-
Krawczak, M.1
Nikolaus, S.2
von Eberstein, H.3
Croucher, P.J.4
El Mokhtari, N.E.5
Schreiber, S.6
-
19
-
-
64049119620
-
Kinesin family member 6 variant Trp719Arg does not associate with angiographically defined coronary artery disease in the Ottawa Heart Genomics Study
-
10.1016/j.jacc.2008.12.051, 19371834
-
Stewart AF, Dandona S, Chen L, Assogba O, Belanger M, Ewart G, et al. Kinesin family member 6 variant Trp719Arg does not associate with angiographically defined coronary artery disease in the Ottawa Heart Genomics Study. J Am Coll Cardiol 2009, 53:1471-1472. 10.1016/j.jacc.2008.12.051, 19371834.
-
(2009)
J Am Coll Cardiol
, vol.53
, pp. 1471-1472
-
-
Stewart, A.F.1
Dandona, S.2
Chen, L.3
Assogba, O.4
Belanger, M.5
Ewart, G.6
-
20
-
-
0037066430
-
A human genome diversity cell line panel
-
10.1126/science.296.5566.261b, 11954565
-
Cann HM, de Toma C, Cazes L, Legrand MF, Morel V, Piouffre L, et al. A human genome diversity cell line panel. Science 2002, 296:261-262. 10.1126/science.296.5566.261b, 11954565.
-
(2002)
Science
, vol.296
, pp. 261-262
-
-
Cann, H.M.1
de Toma, C.2
Cazes, L.3
Legrand, M.F.4
Morel, V.5
Piouffre, L.6
-
21
-
-
77955563933
-
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
-
2987731, 20844286
-
Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability. Sci Transl Med 2010, 2:49ra68. 2987731, 20844286.
-
(2010)
Sci Transl Med
, vol.2
-
-
Noor, A.1
Whibley, A.2
Marshall, C.R.3
Gianakopoulos, P.J.4
Piton, A.5
Carson, A.R.6
-
22
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
10.1038/nature09146, 3021798, 20531469
-
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, 466:368-372. 10.1038/nature09146, 3021798, 20531469.
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
Pagnamenta, A.T.2
Klei, L.3
Anney, R.4
Merico, D.5
Regan, R.6
-
23
-
-
77955569706
-
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
-
10.1016/j.ajhg.2010.06.017, 2917707, 20655035
-
Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, et al. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet 2010, 87:173-188. 10.1016/j.ajhg.2010.06.017, 2917707, 20655035.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 173-188
-
-
Whibley, A.C.1
Plagnol, V.2
Tarpey, P.S.3
Abidi, F.4
Fullston, T.5
Choma, M.K.6
-
24
-
-
0041878461
-
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements
-
10.1093/hmg/ddg223, 12915466
-
Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X. Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements. Hum Mol Genet 2003, 12:2201-2208. 10.1093/hmg/ddg223, 12915466.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2201-2208
-
-
Armengol, L.1
Pujana, M.A.2
Cheung, J.3
Scherer, S.W.4
Estivill, X.5
-
25
-
-
34948896536
-
Male germ cell-specific expression of a novel Patched-domain containing gene Ptchd3
-
10.1016/j.bbrc.2007.09.047, 17904097
-
Fan J, Akabane H, Zheng X, Zhou X, Zhang L, Liu Q, et al. Male germ cell-specific expression of a novel Patched-domain containing gene Ptchd3. Biochem Biophys Res Commun 2007, 363:757-761. 10.1016/j.bbrc.2007.09.047, 17904097.
-
(2007)
Biochem Biophys Res Commun
, vol.363
, pp. 757-761
-
-
Fan, J.1
Akabane, H.2
Zheng, X.3
Zhou, X.4
Zhang, L.5
Liu, Q.6
-
26
-
-
0030743317
-
Hedgehog and its patched-smoothened receptor complex: a novel signalling mechanism at the cell surface
-
10.1515/bchm.1997.378.7.583, 9278137
-
Alcedo J, Noll M. Hedgehog and its patched-smoothened receptor complex: a novel signalling mechanism at the cell surface. Biol Chem 1997, 378:583-590. 10.1515/bchm.1997.378.7.583, 9278137.
-
(1997)
Biol Chem
, vol.378
, pp. 583-590
-
-
Alcedo, J.1
Noll, M.2
-
27
-
-
76349083132
-
Large, rare chromosomal deletions associated with severe early-onset obesity
-
10.1038/nature08689, 19966786
-
Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, et al. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 2010, 463:666-670. 10.1038/nature08689, 19966786.
-
(2010)
Nature
, vol.463
, pp. 666-670
-
-
Bochukova, E.G.1
Huang, N.2
Keogh, J.3
Henning, E.4
Purmann, C.5
Blaszczyk, K.6
-
28
-
-
77949718910
-
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder
-
10.1136/jmg.2009.069369, 19755429
-
Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet 2010, 47:195-203. 10.1136/jmg.2009.069369, 19755429.
-
(2010)
J Med Genet
, vol.47
, pp. 195-203
-
-
Fernandez, B.A.1
Roberts, W.2
Chung, B.3
Weksberg, R.4
Meyn, S.5
Szatmari, P.6
-
29
-
-
78349246743
-
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease
-
Sampson MG, Coughlin CR, Kaplan P, Conlin LK, Meyers KE, Zackai EH, et al. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A 2010,
-
(2010)
Am J Med Genet A
-
-
Sampson, M.G.1
Coughlin, C.R.2
Kaplan, P.3
Conlin, L.K.4
Meyers, K.E.5
Zackai, E.H.6
-
30
-
-
76249116215
-
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
-
10.1038/nature08727, 2880448, 20130649
-
Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010, 463:671-675. 10.1038/nature08727, 2880448, 20130649.
-
(2010)
Nature
, vol.463
, pp. 671-675
-
-
Walters, R.G.1
Jacquemont, S.2
Valsesia, A.3
de Smith, A.J.4
Martinet, D.5
Andersson, J.6
-
31
-
-
49649115106
-
Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?
-
10.1002/ajmg.a.32450, 18627067
-
Curry CJ, Mao R, Aston E, Mongia SK, Treisman T, Procter M, et al. Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?. Am J Med Genet A 2008, 146A:1903-1910. 10.1002/ajmg.a.32450, 18627067.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1903-1910
-
-
Curry, C.J.1
Mao, R.2
Aston, E.3
Mongia, S.K.4
Treisman, T.5
Procter, M.6
-
32
-
-
70350448684
-
Whole genome scanning: resolving clinical diagnosis and management amidst complex data
-
10.1203/PDR.0b013e3181b0cbd8, 19531980
-
Ali-Khan SE, Daar AS, Shuman C, Ray PN, Scherer SW. Whole genome scanning: resolving clinical diagnosis and management amidst complex data. Pediatr Res 2009, 66:357-363. 10.1203/PDR.0b013e3181b0cbd8, 19531980.
-
(2009)
Pediatr Res
, vol.66
, pp. 357-363
-
-
Ali-Khan, S.E.1
Daar, A.S.2
Shuman, C.3
Ray, P.N.4
Scherer, S.W.5
|