-
1
-
-
84855274276
-
Regulated functional alternative splicing in Drosophila
-
PMID: 21908400
-
Venables JP, Tazi J, Juge F. Regulated functional alternative splicing in Drosophila. Nucleic Acids Res. 2012; 40(1):1-10. doi:10.1093/nar/gkr648 PMID: 21908400.
-
(2012)
Nucleic Acids Res
, vol.40
, Issue.1
, pp. 1-10
-
-
Venables, J.P.1
Tazi, J.2
Juge, F.3
-
2
-
-
56749098074
-
Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
-
PMID: 18978789
-
Pan Q, Shai O, Lee LJ, Frey BJ, Blencowe BJ. Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nat Genet. 2008; 40(12):1413-1415. doi:10.1038/ng.259PMID: 18978789.
-
(2008)
Nat Genet
, vol.40
, Issue.12
, pp. 1413-1415
-
-
Pan, Q.1
Shai, O.2
Lee, L.J.3
Frey, B.J.4
Blencowe, B.J.5
-
3
-
-
56549101959
-
Alternative isoform regulation in human tissue transcriptomes
-
PMID: 18978772
-
Wang ET, Sandberg R, Luo S, Khrebtukova I, Zhang L, Mayr C, et al. Alternative isoform regulation in human tissue transcriptomes. Nature. 2008; 456(7221):470-476. doi:10.1038/nature07509 PMID: 18978772.
-
(2008)
Nature
, vol.456
, Issue.7221
, pp. 470-476
-
-
Wang, E.T.1
Sandberg, R.2
Luo, S.3
Khrebtukova, I.4
Zhang, L.5
Mayr, C.6
-
4
-
-
34548758543
-
Splicing in disease: Disruption of the splicing code and the decoding machinery
-
PMID: 17726481
-
Wang GS, Cooper TA. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet. 2007; 8(10):749-761. doi:10.1038/nrg2164 PMID: 17726481.
-
(2007)
Nat Rev Genet
, vol.8
, Issue.10
, pp. 749-761
-
-
Wang, G.S.1
Cooper, T.A.2
-
5
-
-
76249102027
-
Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy
-
PMID: 20098426
-
Du H, Cline MS, Osborne RJ, Tuttle DL, Clark TA, Donohue JP, et al. Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Nat Struct Mol Biol. 2010; 17(2):187-193. doi:10.1038/nsmb.1720 PMID: 20098426.
-
(2010)
Nat Struct Mol Biol
, vol.17
, Issue.2
, pp. 187-193
-
-
Du, H.1
Cline, M.S.2
Osborne, R.J.3
Tuttle, D.L.4
Clark, T.A.5
Donohue, J.P.6
-
6
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
PMID: 10339583
-
Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A. 1999; 96(11):6307-6311. doi:10.1073/pnas.96.11.6307 PMID: 10339583.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, Issue.11
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
7
-
-
10744229294
-
Lamin a truncation in Hutchinson-Gilford progeria
-
PMID: 12702809
-
De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science. 2003; 300(5628):2055. doi:10.1126/science.1084125 PMID: 12702809.
-
(2003)
Science
, vol.300
, Issue.5628
, pp. 2055
-
-
De Sandre-Giovannoli, A.1
Bernard, R.2
Cau, P.3
Navarro, C.4
Amiel, J.5
Boccaccio, I.6
-
8
-
-
0035089807
-
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
-
PMID: 11179008
-
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001; 68(3):598-605. doi:10.1086/318810PMID: 11179008.
-
(2001)
Am J Hum Genet
, vol.68
, Issue.3
, pp. 598-605
-
-
Slaugenhaupt, S.A.1
Blumenfeld, A.2
Gill, S.P.3
Leyne, M.4
Mull, J.5
Cuajungco, M.P.6
-
9
-
-
0028800148
-
Biallelic inactivation of the APC gene in hepatoblastoma
-
PMID: 7585543
-
Kurahashi H, Takami K, Oue T, Kusafuka T, Okada A, Tawa A, et al. Biallelic inactivation of the APC gene in hepatoblastoma. Cancer Res. 1995; 55(21):5007-5011. PMID: 7585543.
-
(1995)
Cancer Res
, vol.55
, Issue.21
, pp. 5007-5011
-
-
Kurahashi, H.1
Takami, K.2
Oue, T.3
Kusafuka, T.4
Okada, A.5
Tawa, A.6
-
10
-
-
3142698784
-
Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype
-
PMID: 15131404
-
Neklason DW, Solomon CH, Dalton AL, Kuwada SK, Burt RW. Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype. Fam Cancer. 2004; 3(1):35-40. doi:10.1023/B:FAME.0000026824.85766.22 PMID: 15131404.
-
(2004)
Fam Cancer
, vol.3
, Issue.1
, pp. 35-40
-
-
Neklason, D.W.1
Solomon, C.H.2
Dalton, A.L.3
Kuwada, S.K.4
Burt, R.W.5
-
11
-
-
0031732316
-
Implications of a novel cryptic splice site in the BRCA1 gene
-
PMID: 9805131
-
Hoffman JD, Hallam SE, Venne VL, Lyon E, Ward K. Implications of a novel cryptic splice site in the BRCA1 gene. Am J Med Genet. 1998; 80(2):140-144. doi:10.1002/(SICI)1096-8628(19981102)80:2%3C140::AID-AJMG10%3E3.0.CO;2-L PMID: 9805131.
-
(1998)
Am J Med Genet
, vol.80
, Issue.2
, pp. 140-144
-
-
Hoffman, J.D.1
Hallam, S.E.2
Venne, V.L.3
Lyon, E.4
Ward, K.5
-
12
-
-
57849150788
-
Alternative splicing and disease
-
PMID: 18992329
-
Tazi J, Bakkour N, Stamm S. Alternative splicing and disease. Biochim Biophys Acta. 2009; 1792(1): 14-26. doi:10.1016/j.bbadis.2008.09.017 PMID: 18992329.
-
(2009)
Biochim Biophys Acta
, vol.1792
, Issue.1
, pp. 14-26
-
-
Tazi, J.1
Bakkour, N.2
Stamm, S.3
-
13
-
-
46249106990
-
Mapping and quantifying mammalian transcriptomes by RNA-Seq
-
PMID: 18516045
-
Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods. 2008; 5(7):621-628. doi:10.1038/nmeth.1226 PMID: 18516045.
-
(2008)
Nat Methods
, vol.5
, Issue.7
, pp. 621-628
-
-
Mortazavi, A.1
Williams, B.A.2
McCue, K.3
Schaeffer, L.4
Wold, B.5
-
14
-
-
84876122166
-
CLASS: Constrained transcript assembly of RNA-seq reads
-
PMID: 23734605
-
Song L, Florea L. CLASS: constrained transcript assembly of RNA-seq reads. BMC Bioinformatics. 2013; 14(Suppl 5:S14). doi:10.1186/1471-2105-14-S5-S14 PMID: 23734605.
-
(2013)
BMC Bioinformatics
, vol.14
, pp. S14
-
-
Song, L.1
Florea, L.2
-
15
-
-
84888871954
-
Assessment of transcript reconstruction methods for RNA-seq
-
PMID: 24185837
-
Steijger T, Abril JF, Engstrom PG, Kokocinski F, Hubbard TJ, Guigo R, et al. Assessment of transcript reconstruction methods for RNA-seq. Nat Methods. 2013; 10(12):1177-1184. doi:10.1038/nmeth.2714 PMID: 24185837.
-
(2013)
Nat Methods
, vol.10
, Issue.12
, pp. 1177-1184
-
-
Steijger, T.1
Abril, J.F.2
Engstrom, P.G.3
Kokocinski, F.4
Hubbard, T.J.5
Guigo, R.6
-
16
-
-
84887412533
-
A single-molecule long-read survey of the human transcriptome
-
PMID: 24108091
-
Sharon D, Tilgner H, Grubert F, Snyder M. A single-molecule long-read survey of the human transcriptome. Nat Biotechnol. 2013; 31(11):1009-1014. doi:10.1038/nbt.2705 PMID: 24108091.
-
(2013)
Nat Biotechnol
, vol.31
, Issue.11
, pp. 1009-1014
-
-
Sharon, D.1
Tilgner, H.2
Grubert, F.3
Snyder, M.4
-
17
-
-
84904016056
-
Defining a personal, allele-specific, and single-molecule long-read transcriptome
-
PMID: 24961374
-
Tilgner H, Grubert F, Sharon D, Snyder MP. Defining a personal, allele-specific, and single-molecule long-read transcriptome. Proc Natl Acad Sci USA. 2014; 111(27):9869-9874. doi:10.1073/pnas.1400447111 PMID: 24961374.
-
(2014)
Proc Natl Acad Sci USA
, vol.111
, Issue.27
, pp. 9869-9874
-
-
Tilgner, H.1
Grubert, F.2
Sharon, D.3
Snyder, M.P.4
-
18
-
-
84899669874
-
Long-read sequencing of chicken transcripts and identification of new transcript isoforms
-
PMID: 24736250
-
Thomas S, Underwood JG, Tseng E, Holloway AK. Long-read sequencing of chicken transcripts and identification of new transcript isoforms. PLoS ONE. 2014; 9(4):e94650. doi:10.1371/journal.pone.0094650 PMID: 24736250.
-
(2014)
PLoS One
, vol.9
, Issue.4
, pp. e94650
-
-
Thomas, S.1
Underwood, J.G.2
Tseng, E.3
Holloway, A.K.4
-
19
-
-
78649345104
-
MapSplice: Accurate mapping of RNA-seq reads for splice junction discovery
-
PMID: 20802226
-
Wang K, Singh D, Zeng Z, Coleman SJ, Huang Y, Savich GL, et al. MapSplice: Accurate mapping of RNA-seq reads for splice junction discovery. Nucleic Acids Res. 2010; 38(18):e178. doi:10.1093/nar/gkq622 PMID: 20802226.
-
(2010)
Nucleic Acids Res
, vol.38
, Issue.18
, pp. e178
-
-
Wang, K.1
Singh, D.2
Zeng, Z.3
Coleman, S.J.4
Huang, Y.5
Savich, G.L.6
-
20
-
-
84888861753
-
Systematic evaluation of spliced alignment programs for RNA-seq data
-
PMID: 24185836
-
Engstrom PG, Steijger T, Sipos B, Grant GR, Kahles A, Ratsch G, et al. Systematic evaluation of spliced alignment programs for RNA-seq data. Nat Methods. 2013; 10(12):1185-1191. doi:10.1038/nmeth.2722 PMID: 24185836.
-
(2013)
Nat Methods
, vol.10
, Issue.12
, pp. 1185-1191
-
-
Engstrom, P.G.1
Steijger, T.2
Sipos, B.3
Grant, G.R.4
Kahles, A.5
Ratsch, G.6
-
21
-
-
0033178886
-
Intron-exon structures of eukaryotic model organisms
-
PMID: 10454621
-
Deutsch M, Long M. Intron-exon structures of eukaryotic model organisms. Nucleic Acids Res. 1999; 27(15):3219-3228. doi:10.1093/nar/27.15.3219 PMID: 10454621.
-
(1999)
Nucleic Acids Res
, vol.27
, Issue.15
, pp. 3219-3228
-
-
Deutsch, M.1
Long, M.2
-
22
-
-
79958724665
-
RNA sequencing reveals two major classes of gene expression levels in metazoan cells
-
PMID: 21654674
-
Hebenstreit D, Fang M, Gu M, Charoensawan V, van Oudenaarden A, Teichmann SA. RNA sequencing reveals two major classes of gene expression levels in metazoan cells. Mol Syst Biol. 2011; 7:497. doi:10.1038/msb.2011.28PMID: 21654674.
-
(2011)
Mol Syst Biol
, vol.7
, pp. 497
-
-
Hebenstreit, D.1
Fang, M.2
Gu, M.3
Charoensawan, V.4
Van Oudenaarden, A.5
Teichmann, S.A.6
-
23
-
-
0036079158
-
The human genome browser at UCSC
-
PMID: 12045153
-
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, et al. The human genome browser at UCSC. Genome Res. 2002; 12(6):996-1006. doi:10.1101/gr.229102 PMID: 12045153.
-
(2002)
Genome Res
, vol.12
, Issue.6
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
-
24
-
-
0034069495
-
Gene ontology: Tool for the unification of biology
-
PMID: 10802651
-
Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, et al. Gene ontology: Tool for the unification of biology. The Gene Ontology Consortium. Nat Genet. 2000; 25(1):25-29. doi:10.1038/75556 PMID: 10802651.
-
(2000)
The Gene Ontology Consortium. Nat Genet
, vol.25
, Issue.1
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
Cherry, J.M.6
-
25
-
-
2642524299
-
The Gene Ontology Annotation (GOA) Database- An integrated resource of GO annotations to the UniProt Knowledgebase
-
PMID: 15089749
-
Camon E, Barrell D, Lee V, Dimmer E, Apweiler R. The Gene Ontology Annotation (GOA) Database- An integrated resource of GO annotations to the UniProt Knowledgebase. In Silico Biol. 2004; 4(1):5-6. PMID: 15089749.
-
(2004)
Silico Biol
, vol.4
, Issue.1
, pp. 5-6
-
-
Camon, E.1
Barrell, D.2
Lee, V.3
Dimmer, E.4
Apweiler, R.5
-
26
-
-
74549125753
-
An abundance of ubiquitously expressed genes revealed by tissue transcriptome sequence data
-
PMID: 20011106
-
Ramskold D, Wang ET, Burge CB, Sandberg R. An abundance of ubiquitously expressed genes revealed by tissue transcriptome sequence data. PLoS Comput Biol. 2009; 5(12):e1000598. doi:10.1371/journal.pcbi.1000598 PMID: 20011106.
-
(2009)
PLoS Comput Biol
, vol.5
, Issue.12
, pp. e1000598
-
-
Ramskold, D.1
Wang, E.T.2
Burge, C.B.3
Sandberg, R.4
-
27
-
-
84929015296
-
Human genomics., The human transcriptome across tissues and individuals
-
PMID: 25954002
-
Mele M, Ferreira PG, Reverter F, DeLuca DS, Monlong J, Sammeth M, et al. Human genomics. The human transcriptome across tissues and individuals. Science. 2015; 348(6235):660-665. doi:10.1126/science.aaa0355 PMID: 25954002.
-
(2015)
Science
, vol.348
, Issue.6235
, pp. 660-665
-
-
Mele, M.1
Ferreira, P.G.2
Reverter, F.3
DeLuca, D.S.4
Monlong, J.5
Sammeth, M.6
-
28
-
-
77953249890
-
Splicing factor and exon profiling across human tissues
-
PMID: 20110256
-
de la Grange P, Gratadou L, Delord M, Dutertre M, Auboeuf D. Splicing factor and exon profiling across human tissues. Nucleic Acids Res. 2010; 38(9):2825-2838. doi:10.1093/nar/gkq008 PMID: 20110256.
-
(2010)
Nucleic Acids Res
, vol.38
, Issue.9
, pp. 2825-2838
-
-
De La Grange, P.1
Gratadou, L.2
Delord, M.3
Dutertre, M.4
Auboeuf, D.5
-
29
-
-
84901406102
-
Thousands of exon skipping events differentiate among splicing patterns in sixteen human tissues
-
PMID: 24555089
-
Florea L, Song L, Salzberg SL. Thousands of exon skipping events differentiate among splicing patterns in sixteen human tissues. F1000Res. 2013; 2:188. doi:10.12688/f1000research.2-188.v1 PMID: 24555089.
-
(2013)
F1000Res
, vol.2
, pp. 188
-
-
Florea, L.1
Song, L.2
Salzberg, S.L.3
-
30
-
-
84879327718
-
Contribution of antibodybased protein profiling to the human chromosome-centric proteome project (C-HPP)
-
PMID: 23276153
-
Fagerberg L, Oksvold P, Skogs M, Algenas C, Lundberg E, Ponten F, et al. Contribution of antibodybased protein profiling to the human Chromosome-centric Proteome Project (C-HPP). J Proteome Res. 2013; 12(6):2439-2448. doi:10.1021/pr300924j PMID: 23276153.
-
(2013)
J Proteome Res
, vol.12
, Issue.6
, pp. 2439-2448
-
-
Fagerberg, L.1
Oksvold, P.2
Skogs, M.3
Algenas, C.4
Lundberg, E.5
Ponten, F.6
-
31
-
-
84857886331
-
Estimation of alternative splicing variability in human populations
-
PMID: 22113879
-
Gonzalez-Porta M, Calvo M, Sammeth M, Guigo R. Estimation of alternative splicing variability in human populations. Genome Res. 2012; 22(3):528-538. doi:10.1101/gr.121947.111 PMID: 22113879.
-
(2012)
Genome Res
, vol.22
, Issue.3
, pp. 528-538
-
-
Gonzalez-Porta, M.1
Calvo, M.2
Sammeth, M.3
Guigo, R.4
-
32
-
-
78651317925
-
The European nucleotide archive
-
(Database issue), PMID: 20972220
-
Leinonen R, Akhtar R, Birney E, Bower L, Cerdeno-Tárraga A, Cheng Y, et al. The European Nucleotide Archive. Nucleic Acids Res. 2011; 39(Database issue):D28-D31. doi:10.1093/nar/gkq967 PMID: 20972220.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. D28-D31
-
-
Leinonen, R.1
Akhtar, R.2
Birney, E.3
Bower, L.4
Cerdeno-Tárraga, A.5
Cheng, Y.6
-
33
-
-
62349130698
-
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
-
Langmead B, Trapnell C, Pop M, Salzberg SL. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol. 2009; 10(3):R25. doi:10.1186/gb-2009-10-3-r25.
-
(2009)
Genome Biol
, vol.10
, Issue.3
, pp. R25
-
-
Langmead, B.1
Trapnell, C.2
Pop, M.3
Salzberg, S.L.4
-
34
-
-
78651320424
-
The UCSC genome browser database: Update 2011
-
(Database issue), PMID: 20959295
-
Fujita PA, Rhead B, Zweig AS, Hinrichs AS, Karolchik D, Cline MS, et al. The UCSC Genome Browser database: update 2011. Nucleic Acids Res. 2011; 39(Database issue):D876-D882. doi:10.1093/nar/gkq963PMID: 20959295.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. D876-D882
-
-
Fujita, P.A.1
Rhead, B.2
Zweig, A.S.3
Hinrichs, A.S.4
Karolchik, D.5
Cline, M.S.6
-
35
-
-
0345865009
-
GenBank: Update
-
(Database issue):, PMID: 14681350
-
Benson DA, Karsch-Mizrachi I, Lipman DJ, Ostell J, Wheeler DL. GenBank: update. Nucleic Acids Res. 2004; 32(Database issue):D23-D26. doi:10.1093/nar/gkh045PMID: 14681350.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. D23-D26
-
-
Benson, D.A.1
Karsch-Mizrachi, I.2
Lipman, D.J.3
Ostell, J.4
Wheeler, D.L.5
-
36
-
-
33646133653
-
The UCSC known genes
-
PMID: 16500937
-
Hsu F, Kent WJ, Clawson H, Kuhn RM, Diekhans M, Haussler D. The UCSC Known Genes. Bioinformatics. 2006; 22(9):1036-1046. doi:10.1093/bioinformatics/btl048 PMID: 16500937.
-
(2006)
Bioinformatics
, vol.22
, Issue.9
, pp. 1036-1046
-
-
Hsu, F.1
Kent, W.J.2
Clawson, H.3
Kuhn, R.M.4
Diekhans, M.5
Haussler, D.6
-
37
-
-
78651289449
-
Ensembl
-
2011, (Database issue):, PMID: 21045057
-
Flicek P, Amode MR, Barrell D, Beal K, Brent S, Chen Y, et al. Ensembl 2011. Nucleic Acids Res. 2011;39(Database issue):D800-D806. doi:10.1093/nar/gkq1064 PMID: 21045057.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. D800-D806
-
-
Flicek, P.1
Amode, M.R.2
Barrell, D.3
Beal, K.4
Brent, S.5
Chen, Y.6
-
38
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
PMID: 19505943
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009; 25(16):2078-2079. doi:10.1093/bioinformatics/btp352 PMID: 19505943.
-
(2009)
Bioinformatics
, vol.25
, Issue.16
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
-
39
-
-
61649083057
-
BioMart-biological queries made easy
-
PMID: 19144180
-
Smedley D, Haider S, Ballester B, Holland R, London D, Thorisson G, et al. BioMart-biological queries made easy. BMC Genomics. 2009; 10:22. doi:10.1186/1471-2164-10-22 PMID: 19144180.
-
(2009)
BMC Genomics
, vol.10
, pp. 22
-
-
Smedley, D.1
Haider, S.2
Ballester, B.3
Holland, R.4
London, D.5
Thorisson, G.6
-
40
-
-
47349105353
-
Anni 2.0: A multipurpose textmining tool for the life sciences
-
PMID: 18549479
-
Jelier R, Schuemie MJ, Veldhoven A, Dorssers LC, Jenster G, Kors JA. Anni 2.0: A multipurpose textmining tool for the life sciences. Genome Biol. 2008; 9(6):R96. doi:10.1186/gb-2008-9-6-r96 PMID: 18549479.
-
(2008)
Genome Biol
, vol.9
, Issue.6
, pp. R96
-
-
Jelier, R.1
Schuemie, M.J.2
Veldhoven, A.3
Dorssers, L.C.4
Jenster, G.5
Kors, J.A.6
|