-
1
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
International HapMap 3 Consortium
-
Altshuler DM, et al; International HapMap 3 Consortium (2010) Integrating common and rare genetic variation in diverse human populations. Nature 467:52-58.
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
Altshuler, D.M.1
-
2
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
Durbin RM, et al.; 1000 Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Durbin, R.M.1
-
3
-
-
81255165015
-
Evaluating the genomic and sequence integrity of human ES cell lines; Comparison to normal genomes
-
Funk WD, et al. (2012) Evaluating the genomic and sequence integrity of human ES cell lines; comparison to normal genomes. Stem Cell Res (Amst) 8:154-164.
-
(2012)
Stem Cell Res (Amst)
, vol.8
, pp. 154-164
-
-
Funk, W.D.1
-
4
-
-
77957334627
-
Identification and classification of chromosomal aberrations in human induced pluripotent stem cells
-
Mayshar Y, et al. (2010) Identification and classification of chromosomal aberrations in human induced pluripotent stem cells. Cell Stem Cell 7:521-531.
-
(2010)
Cell Stem Cell
, vol.7
, pp. 521-531
-
-
Mayshar, Y.1
-
5
-
-
79952126043
-
Copy number variation and selection during reprogramming to pluripotency
-
Hussein SM, et al. (2011) Copy number variation and selection during reprogramming to pluripotency. Nature 471:58-62.
-
(2011)
Nature
, vol.471
, pp. 58-62
-
-
Hussein, S.M.1
-
6
-
-
78650971216
-
Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture
-
Laurent LC, et al. (2011) Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture. Cell Stem Cell 8:106-118.
-
(2011)
Cell Stem Cell
, vol.8
, pp. 106-118
-
-
Laurent, L.C.1
-
7
-
-
79958109873
-
Recurrent copy number variations in human induced pluripotent stem cells
-
Martins-Taylor K, et al. (2011) Recurrent copy number variations in human induced pluripotent stem cells. Nat Biotechnol 29:488-491.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 488-491
-
-
Martins-Taylor, K.1
-
8
-
-
77949725632
-
Early embryonic chromosome instability results in stable mosaic pattern in human tissues
-
Mkrtchyan H, et al. (2010) Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS ONE 5:e9591.
-
(2010)
PLoS ONE
, vol.5
-
-
Mkrtchyan, H.1
-
9
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
1000 Genomes Project
-
Mills RE, et al.1000 Genomes Project (2011) Mapping copy number variation by population-scale genome sequencing. Nature 470:59-65.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
-
10
-
-
79951970227
-
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
-
Abyzov A, Urban AE, Snyder M, Gerstein M (2011) CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 21:974-984.
-
(2011)
Genome Res
, vol.21
, pp. 974-984
-
-
Abyzov, A.1
Urban, A.E.2
Snyder, M.3
Gerstein, M.4
-
11
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by wholegenome sequencing
-
Roach JC, et al. (2010) Analysis of genetic inheritance in a family quartet by wholegenome sequencing. Science 328:636-639.
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
-
12
-
-
79959725029
-
Variation in genome-wide mutation rates within and between human families
-
1000 Genomes Project
-
Conrad DF, et al.1000 Genomes Project (2011) Variation in genome-wide mutation rates within and between human families. Nat Genet 43:712-714.
-
(2011)
Nat Genet
, vol.43
, pp. 712-714
-
-
Conrad, D.F.1
-
13
-
-
56749159848
-
Somatic mosaicism in primary immune deficiencies
-
Wada T, Candotti F (2008) Somatic mosaicism in primary immune deficiencies. Curr Opin Allergy Clin Immunol 8:510-514.
-
(2008)
Curr Opin Allergy Clin Immunol
, vol.8
, pp. 510-514
-
-
Wada, T.1
Candotti, F.2
-
14
-
-
84857050624
-
Age-related somatic structural changes in the nuclear genome of human blood cells
-
Forsberg LA, et al. (2012) Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet 90:217-228.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 217-228
-
-
Forsberg, L.A.1
-
15
-
-
14844328676
-
The variation of aneuploidy frequency in the developing and adult human brain revealed by an interphase FISH study
-
Yurov YB, et al. (2005) The variation of aneuploidy frequency in the developing and adult human brain revealed by an interphase FISH study. J Histochem Cytochem 53(3): 385-390.
-
(2005)
J Histochem Cytochem
, vol.53
, Issue.3
, pp. 385-390
-
-
Yurov, Y.B.1
-
16
-
-
81855178276
-
Somatic retrotransposition alters the genetic landscape of the human brain
-
Baillie JK, et al. (2011) Somatic retrotransposition alters the genetic landscape of the human brain. Nature 479:534-537.
-
(2011)
Nature
, vol.479
, pp. 534-537
-
-
Baillie, J.K.1
-
17
-
-
0033679573
-
Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization
-
Wells D, Delhanty JD (2000) Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 6:1055-1062.
-
(2000)
Mol Hum Reprod
, vol.6
, pp. 1055-1062
-
-
Wells, D.1
Delhanty, J.D.2
-
18
-
-
40849109768
-
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
-
Bruder CE, et al. (2008) Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 82:763-771.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 763-771
-
-
Bruder, C.E.1
-
19
-
-
51549095601
-
Somatic mosaicism for copy number variation in differentiated human tissues
-
Piotrowski A, et al. (2008) Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat 29:1118-1124.
-
(2008)
Hum Mutat
, vol.29
, pp. 1118-1124
-
-
Piotrowski, A.1
-
20
-
-
0036852098
-
Gene expression analysis using oligonucleotide arrays produced by maskless photolithography
-
Nuwaysir EF, et al. (2002) Gene expression analysis using oligonucleotide arrays produced by maskless photolithography. Genome Res 12:1749-1755.
-
(2002)
Genome Res
, vol.12
, pp. 1749-1755
-
-
Nuwaysir, E.F.1
-
21
-
-
46749148395
-
Identification of a candidate alternative promoter region of the human Bcl2L11 (Bim) gene
-
Gaviraghi M, et al. (2008) Identification of a candidate alternative promoter region of the human Bcl2L11 (Bim) gene. BMC Mol Biol 9:56.
-
(2008)
BMC Mol Biol
, vol.9
, pp. 56
-
-
Gaviraghi, M.1
-
22
-
-
0028809840
-
Molecular cloning and characterization of NF-IL3A, a transcriptional activator of the human interleukin-3 promoter
-
Zhang W, et al. (1995) Molecular cloning and characterization of NF-IL3A, a transcriptional activator of the human interleukin-3 promoter. Mol Cell Biol 15:6055-6063.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 6055-6063
-
-
Zhang, W.1
-
23
-
-
23144464901
-
WebGestalt: An integrated system for exploring gene sets in various biological contexts
-
Zhang B, Kirov S, Snoddy J (2005) WebGestalt: An integrated system for exploring gene sets in various biological contexts. Nucleic Acids Res 33(Web Server issue): W741-W748.
-
(2005)
Nucleic Acids Res
, vol.33
, Issue.WEB SERVER
-
-
Zhang, B.1
Kirov, S.2
Snoddy, J.3
-
24
-
-
79959271429
-
WebGestalt2: An updated and expanded version of the Web-based Gene Set Analysis Toolkit
-
Duncan D, Prodduturi N, Zhang B (2010) WebGestalt2: An updated and expanded version of the Web-based Gene Set Analysis Toolkit. BMC Bioinformatics 11(Suppl 4): P10.
-
(2010)
BMC Bioinformatics
, vol.11
, Issue.SUPPL. 4
-
-
Duncan, D.1
Prodduturi, N.2
Zhang, B.3
-
25
-
-
40849111440
-
Gene expression of purified beta-cell tissue obtained from human pancreas with laser capture microdissection
-
Marselli L, et al. (2008) Gene expression of purified beta-cell tissue obtained from human pancreas with laser capture microdissection. J Clin Endocrinol Metab 93: 1046-1053.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 1046-1053
-
-
Marselli, L.1
-
26
-
-
0033598408
-
The TGF-beta signaling inhibitor Smad7 enhances tumorigenicity in pancreatic cancer
-
Kleeff J, et al. (1999) The TGF-beta signaling inhibitor Smad7 enhances tumorigenicity in pancreatic cancer. Oncogene 18:5363-5372.
-
(1999)
Oncogene
, vol.18
, pp. 5363-5372
-
-
Kleeff, J.1
-
27
-
-
0037326526
-
Transforming growth factor-beta1 (TGF-beta)-induced apoptosis of prostate cancer cells involves Smad7-dependent activation of p38 by TGFbeta- activated kinase 1 and mitogen-activated protein kinase kinase 3
-
Edlund S, et al. (2003) Transforming growth factor-beta1 (TGF-beta)-induced apoptosis of prostate cancer cells involves Smad7-dependent activation of p38 by TGFbeta- activated kinase 1 and mitogen-activated protein kinase kinase 3. Mol Biol Cell 14:529-544.
-
(2003)
Mol Biol Cell
, vol.14
, pp. 529-544
-
-
Edlund, S.1
-
28
-
-
0028803740
-
Human ribonuclease 4 (RNase 4): Coding sequence, chromosomal localization and identification of two distinct transcripts in human somatic tissues
-
Rosenberg HF, Dyer KD (1995) Human ribonuclease 4 (RNase 4): Coding sequence, chromosomal localization and identification of two distinct transcripts in human somatic tissues. Nucleic Acids Res 23:4290-4295.
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 4290-4295
-
-
Rosenberg, H.F.1
Dyer, K.D.2
-
29
-
-
0030915525
-
Tissue-specific expression of pancreatic-type RNases and RNase inhibitor in humans
-
Futami J, et al. (1997) Tissue-specific expression of pancreatic-type RNases and RNase inhibitor in humans. DNA Cell Biol 16:413-419.
-
(1997)
DNA Cell Biol
, vol.16
, pp. 413-419
-
-
Futami, J.1
-
30
-
-
0037112912
-
Variation in satellite DNA profiles-causes and effects
-
Ugarkovic D, Plohl M (2002) Variation in satellite DNA profiles-causes and effects. EMBO J 21:5955-5959.
-
(2002)
EMBO J
, vol.21
, pp. 5955-5959
-
-
Ugarkovic, D.1
Plohl, M.2
-
31
-
-
57149099396
-
Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history
-
Kim PM, et al. (2008) Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history. Genome Res 18:1865-1874.
-
(2008)
Genome Res
, vol.18
, pp. 1865-1874
-
-
Kim, P.M.1
-
32
-
-
76249103598
-
Stochastic fate of p53-mutant epidermal progenitor cells is tilted toward proliferation by UV B during preneoplasia
-
Klein AM, Brash DE, Jones PH, Simons BD (2010) Stochastic fate of p53-mutant epidermal progenitor cells is tilted toward proliferation by UV B during preneoplasia. Proc Natl Acad Sci USA 107:270-275.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 270-275
-
-
Klein, A.M.1
Brash, D.E.2
Jones, P.H.3
Simons, B.D.4
-
33
-
-
0017167185
-
The clonal evolution of tumor cell populations
-
Nowell PC (1976) The clonal evolution of tumor cell populations. Science 194:23-28.
-
(1976)
Science
, vol.194
, pp. 23-28
-
-
Nowell, P.C.1
-
34
-
-
0025312728
-
A genetic model for colorectal tumorigenesis
-
Fearon ER, Vogelstein B (1990) A genetic model for colorectal tumorigenesis. Cell 61: 759-767.
-
(1990)
Cell
, vol.61
, pp. 759-767
-
-
Fearon, E.R.1
Vogelstein, B.2
-
36
-
-
0001352834
-
On the origin of multiple mutations in human cancers
-
Jackson AL, Loeb LA (1998) On the origin of multiple mutations in human cancers. Semin Cancer Biol 8:421-429.
-
(1998)
Semin Cancer Biol
, vol.8
, pp. 421-429
-
-
Jackson, A.L.1
Loeb, L.A.2
-
37
-
-
0035072545
-
A bipotential precursor population for pancreas and liver within the embryonic endoderm
-
Deutsch G, Jung J, Zheng M, Lóra J, Zaret KS (2001) A bipotential precursor population for pancreas and liver within the embryonic endoderm. Development 128: 871-881.
-
(2001)
Development
, vol.128
, pp. 871-881
-
-
Deutsch, G.1
Jung, J.2
Zheng, M.3
Lóra, J.4
Zaret, K.S.5
-
38
-
-
0035423751
-
Distinct mesodermal signals, including BMPs from the septum transversum mesenchyme, are required in combination for hepatogenesis from the endoderm
-
Rossi JM, Dunn NR, Hogan BL, Zaret KS (2001) Distinct mesodermal signals, including BMPs from the septum transversum mesenchyme, are required in combination for hepatogenesis from the endoderm. Genes Dev 15:1998-2009.
-
(2001)
Genes Dev
, vol.15
, pp. 1998-2009
-
-
Rossi, J.M.1
Dunn, N.R.2
Hogan, B.L.3
Zaret, K.S.4
-
39
-
-
55549098894
-
Bmp2 signaling regulates the hepatic versus pancreatic fate decision
-
Chung WS, Shin CH, Stainier DYR (2008) Bmp2 signaling regulates the hepatic versus pancreatic fate decision. Dev Cell 15:738-748.
-
(2008)
Dev Cell
, vol.15
, pp. 738-748
-
-
Chung, W.S.1
Shin, C.H.2
Dyr, S.3
-
40
-
-
84871410004
-
Somatic copy-number mosaicism in human skin revealed by induced pluripotent stem cells
-
in press. DOI 10.1038/nature11629
-
Abyzov A, Mariani J, Palejev D, Zhang Y, Haney MS, Tomasini L, Ferrandino A, Rosenberg Belmaker L, Szekely A, Wilson M, Kocabas A, Calixto NE, Grigorenko EL, Huttner A, Chawarska K, Weissman S, Urban AE, Gerstein M, Vaccarino FM: Somatic copy-number mosaicism in human skin revealed by induced pluripotent stem cells. Nature, in press. DOI 10.1038/nature11629.
-
Nature
-
-
Abyzov, A.1
Mariani, J.2
Palejev, D.3
Zhang, Y.4
Haney, M.S.5
Tomasini, L.6
Ferrandino, A.7
Rosenberg Belmaker, L.8
Szekely, A.9
Wilson, M.10
Kocabas, A.11
Calixto, N.E.12
Grigorenko, E.L.13
Huttner, A.14
Chawarska, K.15
Weissman, S.16
Urban, A.E.17
Gerstein, M.18
Vaccarino, F.M.19
|