-
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, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet 2004, 36(9):949-951. 10.1038/ng1416, 15286789.
-
(2004)
Nat Genet
, vol.36
, Issue.9
, 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
-
2
-
-
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, Fiegler H, Shapero MH, Carson AR, Chen W, et al. Global variation in copy number in the human genome. Nature 2006, 444(7118):444-454. 10.1038/nature05329, 2669898, 17122850.
-
(2006)
Nature
, vol.444
, Issue.7118
, 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
-
3
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
10.1038/ng.238, 18776908
-
McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008, 40(10):1166-1174. 10.1038/ng.238, 18776908.
-
(2008)
Nat Genet
, vol.40
, Issue.10
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
de Bakker, P.I.8
Maller, J.B.9
Kirby, A.10
-
4
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (New York, NY 2008, 320(5875):539-543.
-
(2008)
Science (New York, NY
, vol.320
, Issue.5875
, pp. 539-543
-
-
Walsh, T.1
McClellan, J.M.2
McCarthy, S.E.3
Addington, A.M.4
Pierce, S.B.5
Cooper, G.M.6
Nord, A.S.7
Kusenda, M.8
Malhotra, D.9
Bhandari, A.10
-
5
-
-
70349733330
-
Applications of DNA microarray in disease diagnostics
-
Yoo SM, Choi JH, Lee SY, Yoo NC. Applications of DNA microarray in disease diagnostics. Journal of microbiology and biotechnology 2009, 19(7):635-742.
-
(2009)
Journal of microbiology and biotechnology
, vol.19
, Issue.7
, pp. 635-742
-
-
Yoo, S.M.1
Choi, J.H.2
Lee, S.Y.3
Yoo, N.C.4
-
6
-
-
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, Shago M, Moessner R, Pinto D, Ren Y, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008, 82(2):477-488. 10.1016/j.ajhg.2007.12.009, 2426913, 18252227.
-
(2008)
Am J Hum Genet
, vol.82
, Issue.2
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
Lionel, A.C.4
Feuk, L.5
Skaug, J.6
Shago, M.7
Moessner, R.8
Pinto, D.9
Ren, Y.10
-
7
-
-
62549121231
-
Copy number variation in metabolic phenotypes
-
10.1159/000184705, 19287152
-
Lanktree M, Hegele RA. Copy number variation in metabolic phenotypes. Cytogenet Genome Res 2008, 123(1-4):169-175. 10.1159/000184705, 19287152.
-
(2008)
Cytogenet Genome Res
, vol.123
, Issue.1-4
, pp. 169-175
-
-
Lanktree, M.1
Hegele, R.A.2
-
8
-
-
61649100746
-
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications
-
10.1002/humu.20883, 19085936
-
Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, et al. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat 2009, 30(3):283-292. 10.1002/humu.20883, 19085936.
-
(2009)
Hum Mutat
, vol.30
, Issue.3
, pp. 283-292
-
-
Koolen, D.A.1
Pfundt, R.2
de Leeuw, N.3
Hehir-Kwa, J.Y.4
Nillesen, W.M.5
Neefs, I.6
Scheltinga, I.7
Sistermans, E.8
Smeets, D.9
Brunner, H.G.10
-
9
-
-
67649667022
-
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study
-
10.1002/humu.21015, 19388127
-
McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BBA, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, et al. Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat 2009, 30(7):1082-1092. 10.1002/humu.21015, 19388127.
-
(2009)
Hum Mutat
, vol.30
, Issue.7
, pp. 1082-1092
-
-
McMullan, D.J.1
Bonin, M.2
Hehir-Kwa, J.Y.3
de Vries, B.B.A.4
Dufke, A.5
Rattenberry, E.6
Steehouwer, M.7
Moruz, L.8
Pfundt, R.9
de Leeuw, N.10
-
10
-
-
0035179871
-
Assembly of microarrays for genome-wide measurement of DNA copy number
-
10.1038/ng754, 11687795
-
Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B, Kimura K, et al. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 2001, 29(3):263-264. 10.1038/ng754, 11687795.
-
(2001)
Nat Genet
, vol.29
, Issue.3
, pp. 263-264
-
-
Snijders, A.M.1
Nowak, N.2
Segraves, R.3
Blackwood, S.4
Brown, N.5
Conroy, J.6
Hamilton, G.7
Hindle, A.K.8
Huey, B.9
Kimura, K.10
-
11
-
-
33748272115
-
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
-
10.1101/gr.5402306, 1557768, 16899659
-
Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, et al. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res 2006, 16(9):1136-1148. 10.1101/gr.5402306, 1557768, 16899659.
-
(2006)
Genome Res
, vol.16
, Issue.9
, pp. 1136-1148
-
-
Peiffer, D.A.1
Le, J.M.2
Steemers, F.J.3
Chang, W.4
Jenniges, T.5
Garcia, F.6
Haden, K.7
Li, J.8
Shaw, C.A.9
Belmont, J.10
-
12
-
-
34249680839
-
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
-
10.1016/j.gde.2007.04.009, 17467974
-
Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007, 17(3):182-192. 10.1016/j.gde.2007.04.009, 17467974.
-
(2007)
Curr Opin Genet Dev
, vol.17
, Issue.3
, pp. 182-192
-
-
Stankiewicz, P.1
Beaudet, A.L.2
-
13
-
-
34248660286
-
A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array
-
10.1186/1471-2105-8-145, 1868765, 17477871
-
Yu T, Ye H, Sun W, Li KC, Chen Z, Jacobs S, Bailey DK, Wong DT, Zhou X. A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array. BMC bioinformatics 2007, 8:145. 10.1186/1471-2105-8-145, 1868765, 17477871.
-
(2007)
BMC bioinformatics
, vol.8
, pp. 145
-
-
Yu, T.1
Ye, H.2
Sun, W.3
Li, K.C.4
Chen, Z.5
Jacobs, S.6
Bailey, D.K.7
Wong, D.T.8
Zhou, X.9
-
14
-
-
68249157096
-
Comparison of comparative genomic hybridization technologies across microarray platforms
-
2685605, 19503625
-
Hester SD, Reid L, Nowak N, Jones WD, Parker JS, Knudtson K, Ward W, Tiesman J, Denslow ND. Comparison of comparative genomic hybridization technologies across microarray platforms. J Biomol Tech 2009, 20(2):135-151. 2685605, 19503625.
-
(2009)
J Biomol Tech
, vol.20
, Issue.2
, pp. 135-151
-
-
Hester, S.D.1
Reid, L.2
Nowak, N.3
Jones, W.D.4
Parker, J.S.5
Knudtson, K.6
Ward, W.7
Tiesman, J.8
Denslow, N.D.9
-
15
-
-
64149099583
-
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
-
10.1016/j.ajhg.2009.03.010, 2667985, 19344873
-
Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 2009, 84(4):524-533. 10.1016/j.ajhg.2009.03.010, 2667985, 19344873.
-
(2009)
Am J Hum Genet
, vol.84
, Issue.4
, pp. 524-533
-
-
Firth, H.V.1
Richards, S.M.2
Bevan, A.P.3
Clayton, S.4
Corpas, M.5
Rajan, D.6
Van Vooren, S.7
Moreau, Y.8
Pettett, R.M.9
Carter, N.P.10
-
16
-
-
33646568805
-
Gene prioritization through genomic data fusion
-
10.1038/nbt1203, 16680138
-
Aerts S, Lambrechts D, Maity S, Van Loo P, Coessens B, De Smet F, Tranchevent L-C, De Moor B, Marynen P, Hassan B, et al. Gene prioritization through genomic data fusion. Nat Biotechnol 2006, 24(5):537-544. 10.1038/nbt1203, 16680138.
-
(2006)
Nat Biotechnol
, vol.24
, Issue.5
, pp. 537-544
-
-
Aerts, S.1
Lambrechts, D.2
Maity, S.3
Van Loo, P.4
Coessens, B.5
De Smet, F.6
Tranchevent, L.-C.7
De Moor, B.8
Marynen, P.9
Hassan, B.10
-
17
-
-
77955289878
-
Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics
-
10.1007/s00439-010-0837-0, 20512354
-
Qiao Y, Harvard C, Tyson C, Liu X, Fawcett C, Pavlidis P, Holden JJ, Lewis ME, Rajcan-Separovic E. Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics. Hum Genet 128(2):179-194. 10.1007/s00439-010-0837-0, 20512354.
-
Hum Genet
, vol.128
, Issue.2
, pp. 179-194
-
-
Qiao, Y.1
Harvard, C.2
Tyson, C.3
Liu, X.4
Fawcett, C.5
Pavlidis, P.6
Holden, J.J.7
Lewis, M.E.8
Rajcan-Separovic, E.9
-
18
-
-
27544483495
-
Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data
-
10.1093/bioinformatics/bti611, 2819184, 16081473
-
Lai WR, Johnson MD, Kucherlapati R, Park PJ. Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data. Bioinformatics (Oxford, England) 2005, 21(19):3763-3770. 10.1093/bioinformatics/bti611, 2819184, 16081473.
-
(2005)
Bioinformatics (Oxford, England)
, vol.21
, Issue.19
, pp. 3763-3770
-
-
Lai, W.R.1
Johnson, M.D.2
Kucherlapati, R.3
Park, P.J.4
-
19
-
-
48449097800
-
ENDEAVOUR update: a web resource for gene prioritization in multiple species
-
Web Server, 10.1093/nar/gkn325, 2447805, 18508807
-
Tranchevent LC, Barriot R, Yu S, Van Vooren S, Van Loo P, Coessens B, De Moor B, Aerts S, Moreau Y. ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucleic Acids Res 2008, (36 Web Server):W377-384. 10.1093/nar/gkn325, 2447805, 18508807.
-
(2008)
Nucleic Acids Res
, Issue.36
-
-
Tranchevent, L.C.1
Barriot, R.2
Yu, S.3
Van Vooren, S.4
Van Loo, P.5
Coessens, B.6
De Moor, B.7
Aerts, S.8
Moreau, Y.9
-
20
-
-
77954575178
-
Accurate distinction of pathogenic from benign CNVs in mental retardation
-
10.1371/journal.pcbi.1000752, 2858682, 20421931
-
Hehir-Kwa JY, Wieskamp N, Webber C, Pfundt R, Brunner HG, Gilissen C, de Vries BB, Ponting CP, Veltman JA. Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS computational biology 2010, 6(4):e1000752. 10.1371/journal.pcbi.1000752, 2858682, 20421931.
-
(2010)
PLoS computational biology
, vol.6
, Issue.4
-
-
Hehir-Kwa, J.Y.1
Wieskamp, N.2
Webber, C.3
Pfundt, R.4
Brunner, H.G.5
Gilissen, C.6
de Vries, B.B.7
Ponting, C.P.8
Veltman, J.A.9
-
21
-
-
77249147043
-
CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics
-
10.1186/1471-2105-11-74, 2827374, 20132550
-
Gai X, Perin JC, Murphy K, O'Hara R, D'Arcy M, Wenocur A, Xie HM, Rappaport EF, Shaikh TH, White PS. CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics. BMC bioinformatics 2010, 11:74. 10.1186/1471-2105-11-74, 2827374, 20132550.
-
(2010)
BMC bioinformatics
, vol.11
, pp. 74
-
-
Gai, X.1
Perin, J.C.2
Murphy, K.3
O'Hara, R.4
D'Arcy, M.5
Wenocur, A.6
Xie, H.M.7
Rappaport, E.F.8
Shaikh, T.H.9
White, P.S.10
-
22
-
-
19544370909
-
ArrayCyGHt: a web application for analysis and visualization of array-CGH data
-
10.1093/bioinformatics/bti357, 15746288
-
Kim SY, Nam SW, Lee SH, Park WS, Yoo NJ, Lee JY, Chung YJ. ArrayCyGHt: a web application for analysis and visualization of array-CGH data. Bioinformatics (Oxford, England) 2005, 21(10):2554-2555. 10.1093/bioinformatics/bti357, 15746288.
-
(2005)
Bioinformatics (Oxford, England)
, vol.21
, Issue.10
, pp. 2554-2555
-
-
Kim, S.Y.1
Nam, S.W.2
Lee, S.H.3
Park, W.S.4
Yoo, N.J.5
Lee, J.Y.6
Chung, Y.J.7
-
23
-
-
25144501364
-
ArrayCGHbase: an analysis platform for comparative genomic hybridization microarrays
-
10.1186/1471-2105-6-124, 1173083, 15910681
-
Menten B, Pattyn F, De Preter K, Robbrecht P, Michels E, Buysse K, Mortier G, De Paepe A, van Vooren S, Vermeesch J, et al. arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays. BMC bioinformatics 2005, 6:124. 10.1186/1471-2105-6-124, 1173083, 15910681.
-
(2005)
BMC bioinformatics
, vol.6
, pp. 124
-
-
Menten, B.1
Pattyn, F.2
De Preter, K.3
Robbrecht, P.4
Michels, E.5
Buysse, K.6
Mortier, G.7
De Paepe, A.8
van Vooren, S.9
Vermeesch, J.10
-
24
-
-
34247877877
-
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
-
10.1093/nar/gkm076, 1874617, 17341461
-
Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P, Bassett AS, Seller A, Holmes CC, Ragoussis J. QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res 2007, 35(6):2013-2025. 10.1093/nar/gkm076, 1874617, 17341461.
-
(2007)
Nucleic Acids Res
, vol.35
, Issue.6
, pp. 2013-2025
-
-
Colella, S.1
Yau, C.2
Taylor, J.M.3
Mirza, G.4
Butler, H.5
Clouston, P.6
Bassett, A.S.7
Seller, A.8
Holmes, C.C.9
Ragoussis, J.10
-
25
-
-
35948984173
-
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
10.1101/gr.6861907, 2045149, 17921354
-
Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007, 17(11):1665-1674. 10.1101/gr.6861907, 2045149, 17921354.
-
(2007)
Genome Res
, vol.17
, Issue.11
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
Grant, S.F.6
Hakonarson, H.7
Bucan, M.8
-
26
-
-
43449102012
-
Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays
-
10.1214/07-AOAS155, 2710854, 19609370
-
Scharpf RB, Parmigiani G, Pevsner J, Ruczinski I. Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays. The annals of applied statistics 2008, 2(2):687-713. 10.1214/07-AOAS155, 2710854, 19609370.
-
(2008)
The annals of applied statistics
, vol.2
, Issue.2
, pp. 687-713
-
-
Scharpf, R.B.1
Parmigiani, G.2
Pevsner, J.3
Ruczinski, I.4
-
27
-
-
53349171050
-
Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays
-
10.1186/gb-2008-9-9-r136, 2592714, 18796136
-
Staaf J, Lindgren D, Vallon-Christersson J, Isaksson A, Goransson H, Juliusson G, Rosenquist R, Hoglund M, Borg A, Ringner M. Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays. Genome Biol 2008, 9(9):R136. 10.1186/gb-2008-9-9-r136, 2592714, 18796136.
-
(2008)
Genome Biol
, vol.9
, Issue.9
-
-
Staaf, J.1
Lindgren, D.2
Vallon-Christersson, J.3
Isaksson, A.4
Goransson, H.5
Juliusson, G.6
Rosenquist, R.7
Hoglund, M.8
Borg, A.9
Ringner, M.10
-
28
-
-
37048999796
-
Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio
-
10.1002/humu.20583, 17661425
-
Ting JC, Roberson ED, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J. Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Hum Mutat 2007, 28(12):1225-1235. 10.1002/humu.20583, 17661425.
-
(2007)
Hum Mutat
, vol.28
, Issue.12
, pp. 1225-1235
-
-
Ting, J.C.1
Roberson, E.D.2
Miller, N.D.3
Lysholm-Bernacchi, A.4
Stephan, D.A.5
Capone, G.T.6
Ruczinski, I.7
Thomas, G.H.8
Pevsner, J.9
-
29
-
-
70449418416
-
Integrated study of copy number states and genotype calls using high-density SNP arrays
-
2935461, 19581427
-
Sun W, Wright FA, Tang Z, Nordgard SH, Loo PV, Yu T, Kristensen VN, Perou CM. Integrated study of copy number states and genotype calls using high-density SNP arrays. Nucleic Acids Res 2009, 2935461, 19581427.
-
(2009)
Nucleic Acids Res
-
-
Sun, W.1
Wright, F.A.2
Tang, Z.3
Nordgard, S.H.4
Loo, P.V.5
Yu, T.6
Kristensen, V.N.7
Perou, C.M.8
-
30
-
-
75349090254
-
An optimization framework for unsupervised identification of rare copy number variation from SNP array data
-
10.1186/gb-2009-10-10-r119, 2784334, 19849861
-
Yavas G, Koyuturk M, Ozsoyoglu M, Gould MP, LaFramboise T. An optimization framework for unsupervised identification of rare copy number variation from SNP array data. Genome Biol 2009, 10(10):R119. 10.1186/gb-2009-10-10-r119, 2784334, 19849861.
-
(2009)
Genome Biol
, vol.10
, Issue.10
-
-
Yavas, G.1
Koyuturk, M.2
Ozsoyoglu, M.3
Gould, M.P.4
LaFramboise, T.5
-
31
-
-
2542548405
-
DChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data
-
10.1093/bioinformatics/bth069, 14871870
-
Lin M, Wei LJ, Sellers WR, Lieberfarb M, Wong WH, Li C. dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data. Bioinformatics (Oxford, England) 2004, 20(8):1233-1240. 10.1093/bioinformatics/bth069, 14871870.
-
(2004)
Bioinformatics (Oxford, England)
, vol.20
, Issue.8
, pp. 1233-1240
-
-
Lin, M.1
Wei, L.J.2
Sellers, W.R.3
Lieberfarb, M.4
Wong, W.H.5
Li, C.6
-
32
-
-
38449122025
-
Copy-number variation in control population cohorts
-
R168-173, 10.1093/hmg/ddm241, 17911159
-
Pinto D, Marshall C, Feuk L, Scherer SW. Copy-number variation in control population cohorts. Hum Mol Genet 2007, 16(Spec No 2):R168-173. 10.1093/hmg/ddm241, 17911159.
-
(2007)
Hum Mol Genet
, vol.16
, Issue.SPEC NO 2
-
-
Pinto, D.1
Marshall, C.2
Feuk, L.3
Scherer, S.W.4
-
33
-
-
62549137441
-
CNV discovery using SNP genotyping arrays
-
10.1159/000184722, 19287169
-
Yau C, Holmes CC. CNV discovery using SNP genotyping arrays. Cytogenet Genome Res 2008, 123(1-4):307-312. 10.1159/000184722, 19287169.
-
(2008)
Cytogenet Genome Res
, vol.123
, Issue.1-4
, pp. 307-312
-
-
Yau, C.1
Holmes, C.C.2
-
34
-
-
77952306368
-
CNstream: A method for the identification and genotyping of copy number polymorphisms using Illumina microarrays
-
10.1186/1471-2105-11-264, 20482829
-
Alonso A, Julia A, Tortosa R, Canaleta C, Canete JD, Ballina J, Balsa A, Tornero J, Marsal S. CNstream: A method for the identification and genotyping of copy number polymorphisms using Illumina microarrays. BMC bioinformatics 2010, 11(1):264. 10.1186/1471-2105-11-264, 20482829.
-
(2010)
BMC bioinformatics
, vol.11
, Issue.1
, pp. 264
-
-
Alonso, A.1
Julia, A.2
Tortosa, R.3
Canaleta, C.4
Canete, J.D.5
Ballina, J.6
Balsa, A.7
Tornero, J.8
Marsal, S.9
-
35
-
-
56049110212
-
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms
-
10.1093/nar/gkn556, 2577347, 18784189
-
Diskin SJ, Li M, Hou C, Yang S, Glessner J, Hakonarson H, Bucan M, Maris JM, Wang K. Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res 2008, 36(19):e126. 10.1093/nar/gkn556, 2577347, 18784189.
-
(2008)
Nucleic Acids Res
, vol.36
, Issue.19
-
-
Diskin, S.J.1
Li, M.2
Hou, C.3
Yang, S.4
Glessner, J.5
Hakonarson, H.6
Bucan, M.7
Maris, J.M.8
Wang, K.9
-
36
-
-
85061108846
-
London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, pound sterling 1595
-
10.1007/s00439-002-0759-6, 12136245
-
Fryns JP, de Ravel TJ. London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, pound sterling 1595. Hum Genet 2002, 111(1):113. 10.1007/s00439-002-0759-6, 12136245.
-
(2002)
Hum Genet
, vol.111
, Issue.1
, pp. 113
-
-
Fryns, J.P.1
de Ravel, T.J.2
-
37
-
-
58149178579
-
NCBI Reference Sequences: current status, policy and new initiatives
-
Database, 10.1093/nar/gkn721, 2686572, 18927115
-
Pruitt KD, Tatusova T, Klimke W, Maglott DR. NCBI Reference Sequences: current status, policy and new initiatives. Nucleic Acids Res 2009, (37 Database):D32-36. 10.1093/nar/gkn721, 2686572, 18927115.
-
(2009)
Nucleic Acids Res
, Issue.37
-
-
Pruitt, K.D.1
Tatusova, T.2
Klimke, W.3
Maglott, D.R.4
-
38
-
-
13444266370
-
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
-
Database, 539987, 15608251
-
Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 2005, (33 Database):D514-517. 539987, 15608251.
-
(2005)
Nucleic Acids Res
, Issue.33
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.S.3
Bocchini, C.A.4
McKusick, V.A.5
-
39
-
-
33745587022
-
European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities
-
10.1016/j.ejmg.2005.10.131, 16829349
-
Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BB, Van Ravenswaaij CM, et al. European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur J Med Genet 2006, 49(4):279-291. 10.1016/j.ejmg.2005.10.131, 16829349.
-
(2006)
Eur J Med Genet
, vol.49
, Issue.4
, pp. 279-291
-
-
Feenstra, I.1
Fang, J.2
Koolen, D.A.3
Siezen, A.4
Evans, C.5
Winter, R.M.6
Lees, M.M.7
Riegel, M.8
de Vries, B.B.9
Van Ravenswaaij, C.M.10
-
40
-
-
34547664096
-
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
-
10.1371/journal.pgen.0010049, 1352149, 16444292
-
Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005, 1(6):e49. 10.1371/journal.pgen.0010049, 1352149, 16444292.
-
(2005)
PLoS Genet
, vol.1
, Issue.6
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
41
-
-
33846664313
-
EBIMed--text crunching to gather facts for proteins from Medline
-
10.1093/bioinformatics/btl302, 17237098
-
Rebholz-Schuhmann D, Kirsch H, Arregui M, Gaudan S, Riethoven M, Stoehr P. EBIMed--text crunching to gather facts for proteins from Medline. Bioinformatics (Oxford, England) 2007, 23(2):e237-244. 10.1093/bioinformatics/btl302, 17237098.
-
(2007)
Bioinformatics (Oxford, England)
, vol.23
, Issue.2
-
-
Rebholz-Schuhmann, D.1
Kirsch, H.2
Arregui, M.3
Gaudan, S.4
Riethoven, M.5
Stoehr, P.6
-
42
-
-
50449088836
-
A wiki for the life sciences where authorship matters
-
10.1038/ng.f.217, 18728691
-
Hoffmann R. A wiki for the life sciences where authorship matters. Nat Genet 2008, 40(9):1047-1051. 10.1038/ng.f.217, 18728691.
-
(2008)
Nat Genet
, vol.40
, Issue.9
, pp. 1047-1051
-
-
Hoffmann, R.1
-
43
-
-
84896967736
-
ISCN 2009: An International System for Human Cytogenetic Nomenclature
-
Shaffer LGSM, Campbell LJ. ISCN 2009: An International System for Human Cytogenetic Nomenclature. 2009, 126.
-
(2009)
, vol.126
-
-
Shaffer, L.G.S.M.1
Campbell, L.J.2
-
44
-
-
77957200347
-
A potential role for intragenic miRNAs on their hosts' interactome
-
10.1186/1471-2164-11-533, 20920310
-
Hinske LC, Galante PA, Kuo WP, Ohno-Machado L. A potential role for intragenic miRNAs on their hosts' interactome. BMC Genomics 2010, 11:533. 10.1186/1471-2164-11-533, 20920310.
-
(2010)
BMC Genomics
, vol.11
, pp. 533
-
-
Hinske, L.C.1
Galante, P.A.2
Kuo, W.P.3
Ohno-Machado, L.4
-
45
-
-
77958043441
-
MicroRNAs: exploring a new dimension in the pathogenesis of kidney cancer
-
10.1186/1741-7015-8-65, 2978114, 20964839
-
White NM, Yousef GM. MicroRNAs: exploring a new dimension in the pathogenesis of kidney cancer. BMC Med 2010, 8(1):65. 10.1186/1741-7015-8-65, 2978114, 20964839.
-
(2010)
BMC Med
, vol.8
, Issue.1
, pp. 65
-
-
White, N.M.1
Yousef, G.M.2
-
46
-
-
77954682167
-
Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome
-
10.4161/epi.5.5.11999, 20448464
-
Gatto S, Ragione FD, Cimmino A, Strazzullo M, Fabbri M, Mutarelli M, Ferraro L, Weisz A, D'Esposito M, Matarazzo MR. Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome. Epigenetics 2010, 5(5). 10.4161/epi.5.5.11999, 20448464.
-
(2010)
Epigenetics
, vol.5
, Issue.5
-
-
Gatto, S.1
Ragione, F.D.2
Cimmino, A.3
Strazzullo, M.4
Fabbri, M.5
Mutarelli, M.6
Ferraro, L.7
Weisz, A.8
D'Esposito, M.9
Matarazzo, M.R.10
-
47
-
-
77955915897
-
Uniparental disomy and human disease: an overview
-
10.1002/ajmg.c.30270, 20803655
-
Yamazawa K, Ogata T, Ferguson-Smith AC. Uniparental disomy and human disease: an overview. Am J Med Genet C Semin Med Genet 2010, 154C(3):329-334. 10.1002/ajmg.c.30270, 20803655.
-
(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, Issue.3
, pp. 329-334
-
-
Yamazawa, K.1
Ogata, T.2
Ferguson-Smith, A.C.3
-
48
-
-
77954055600
-
Cloud computing for comparative genomics
-
Wall DP, Kudtarkar P, Fusaro VA, Pivovarov R, Patil P, Tonellato PJ. Cloud computing for comparative genomics. BMC bioinformatics 2010, 11:259.
-
(2010)
BMC bioinformatics
, vol.11
, pp. 259
-
-
Wall, D.P.1
Kudtarkar, P.2
Fusaro, V.A.3
Pivovarov, R.4
Patil, P.5
Tonellato, P.J.6
|