DOI: 10.1371/journal.pone.0127376. C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

10.1371/journal.pone.0127376

Crossref journal-article

Public Library of Science (PLoS)

PLOS ONE (340)

Bibliography

Cooper-Knock, J., Bury, J. J., Heath, P. R., Wyles, M., Higginbottom, A., Gelsthorpe, C., Highley, J. R., Hautbergue, G., Rattray, M., Kirby, J., & Shaw, P. J. (2015). C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis. PLOS ONE, 10(5), e0127376.

Authors 11

Johnathan Cooper-Knock (first)
Joanna J. Bury (additional)
Paul R Heath (additional)
Matthew Wyles (additional)
Adrian Higginbottom (additional)
Catherine Gelsthorpe (additional)
J. Robin Highley (additional)
Guillaume Hautbergue (additional)
Magnus Rattray (additional)
Janine Kirby (additional)
Pamela J. Shaw (additional)

References 41 Referenced 86

10.1016/j.neuron.2011.09.011 / Neuron / Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS by M DeJesus-Hernandez (2011)
10.1016/j.neuron.2011.09.010 / Neuron / A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD by Alan E Renton (2011)
10.1016/j.neuron.2013.10.015 / Neuron / RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention by CJ Donnelly (2013)
10.1126/scitranslmed.3007529 / Science Translational Medicine / Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion by D Sareen (2013)
10.1073/pnas.1318835110 / Proc Natl Acad Sci U S A / Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration by C Lagier-Tourenne (2013)
10.1007/s00401-013-1200-z / Acta Neuropathol / C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci by S Mizielinska (2013)
10.1016/j.celrep.2013.10.049 / Cell Rep / Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic by YB Lee (2013)
10.1093/brain/awu120 / Brain / Sequestration of multiple RNA Recognition Motif-containing proteins by C9ORF72 repeat expansions by J Cooper-Knock (2014)
10.1016/j.neuron.2013.02.004 / Neuron / Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS by PE Ash (2013)
10.1007/s00401-013-1181-y / Acta Neuropathol / Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations by IR Mackenzie (2013)
10.1126/science.1232927 / Science / The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS by K Mori (2013)
10.1007/s00401-014-1251-9 / Acta Neuropathol / The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype by J Cooper-Knock (2014)
10.1371/journal.pgen.1001236 / PLoS Genet / Noisy splicing drives mRNA isoform diversity in human cells by JK Pickrell (2014)
10.1155/2013/408681 / Oxid Med Cell Longev / Redox regulation in amyotrophic lateral sclerosis by S Parakh (2013)
10.1111/j.1468-1331.2009.02923.x / Eur J Neurol / ALS disease onset may occur later in patients with pre-morbid diabetes mellitus by A Jawaid (2010)
10.1016/j.pneurobio.2009.01.007 / Prog Neurobiol / Neural cell cycle dysregulation and central nervous system diseases by W Wang (2009)
10.1038/nrneurol.2012.156 / Nat Rev Neurol / Gene expression profiling in human neurodegenerative disease by J Cooper-Knock (2012)
10.1155/2013/674751 / Int J Cell Biol / ER Dysfunction and Protein Folding Stress in ALS by S Matus (2013)
10.1016/j.nbd.2010.12.005 / Neurobiol Dis / Evidence of endoplasmic reticular stress in the spinal motor neurons exposed to CSF from sporadic amyotrophic lateral sclerosis patients by K Vijayalakshmi (2011)
10.1194/jlr.M043299 / J Lipid Res / Endoplasmic reticulum stress impairs cholesterol efflux and synthesis in hepatic cells by C Rohrl (2014)
10.1111/nan.12147 / Neuropathol Appl Neurobiol / Gene expression signatures in motor neuron disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions by R Raman (2015)
10.1007/s00401-013-1125-6 / Acta Neuropathol / Protein aggregation in amyotrophic lateral sclerosis by AM Blokhuis (2013)
10.1016/j.neuron.2010.11.036 / Neuron / Exome sequencing reveals VCP mutations as a cause of familial ALS by JO Johnson (2010)
10.1038/nature10353 / Nature / Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia by HX Deng (2011)
10.1016/S1474-4422(05)70142-3 / Lancet Neurol / Apoptosis in amyotrophic lateral sclerosis—what is the evidence? by S Sathasivam (2005)
10.1007/s00401-013-1088-7 / Acta Neuropathol / hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations by K Mori (2013)
10.1038/nature13124 / Nature / C9orf72 nucleotide repeat structures initiate molecular cascades of disease by AR Haeusler (2014)
10.1186/1750-1326-8-12 / Mol Neurodegener / Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation by VL Buchman (2013)
10.1136/jnnp-2012-303326 / J Neurol Neurosurg Psychiatry / Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72 by A Ismail (2013)
{'key': 'ref30', 'first-page': '162', 'article-title': 'Neuropathological diagnoses in elderly patients in Oslo: Alzheimer's disease, Lewy body disease, vascular lesions', 'volume': '6', 'author': 'PG Ince', 'year': '1995', 'journal-title': 'Dementia'} / Dementia / Neuropathological diagnoses in elderly patients in Oslo: Alzheimer's disease, Lewy body disease, vascular lesions by PG Ince (1995)
10.1523/JNEUROSCI.1470-07.2007 / J Neurosci / Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS by L Ferraiuolo (2007)
10.1186/1471-2105-10-211 / BMC Bioinformatics / puma: a Bioconductor package for propagating uncertainty in microarray analysis by RD Pearson (2009)
10.1093/bib/bbk003 / Brief Bioinform / Propagating uncertainty in microarray data analysis by M Rattray (2006)
10.1371/journal.pgen.0020130 / PLoS Genet / Integrating genetic and network analysis to characterize genes related to mouse weight by A Ghazalpour (2006)
10.1186/1471-2105-9-559 / BMC Bioinformatics / WGCNA: an R package for weighted correlation network analysis by P Langfelder (2008)
10.1038/nprot.2008.211 / Nat Protocols / Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources by DW Huang (2008)
10.1093/nar/gkn923 / Nucleic Acids Research / Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists by DW Huang (2009)
10.1093/bioinformatics/btn284 / Bioinformatics / FIRMA: a method for detection of alternative splicing from exon array data by E Purdom (2008)
Bengtsson H, Simpson K, Bullard J, Hansen K. aroma.affymetrix: A generic framework in R for analyzing small to very large Affymetrix data sets in bounded memory. 2008; Tech Report #745, Department of Statistics, University of California, Berkeley.
10.1186/gm248 / Genome Med / Transcriptome instability in colorectal cancer identified by exon microarray analyses: Associations with splicing factor expression levels and patient survival by A Sveen (2011)
10.1093/brain/awh503 / Brain / Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS by J Kirby (2005)

Dates

Type	When
Created	10 years, 3 months ago (May 27, 2015, 1:54 p.m.)
Deposited	5 years, 3 months ago (May 9, 2020, 8:16 a.m.)
Indexed	2 weeks, 6 days ago (Aug. 12, 2025, 5:29 p.m.)
Issued	10 years, 3 months ago (May 27, 2015)
Published	10 years, 3 months ago (May 27, 2015)
Published Online	10 years, 3 months ago (May 27, 2015)

Funders 0

None

BibTeX

@article{Cooper_Knock_2015, title={C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis}, volume={10}, ISSN={1932-6203}, url={http://dx.doi.org/10.1371/journal.pone.0127376}, DOI={10.1371/journal.pone.0127376}, number={5}, journal={PLOS ONE}, publisher={Public Library of Science (PLoS)}, author={Cooper-Knock, Johnathan and Bury, Joanna J. and Heath, Paul R and Wyles, Matthew and Higginbottom, Adrian and Gelsthorpe, Catherine and Highley, J. Robin and Hautbergue, Guillaume and Rattray, Magnus and Kirby, Janine and Shaw, Pamela J.}, editor={Cai, Huaibin}, year={2015}, month=may, pages={e0127376} }

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      "article-title": "Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS",
      "volume": "72",
      "author": "M DeJesus-Hernandez",
      "year": "2011",
      "journal-title": "Neuron"
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      "first-page": "257",
      "DOI": "10.1016/j.neuron.2011.09.010",
      "article-title": "A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD",
      "volume": "72",
      "author": "Alan E Renton",
      "year": "2011",
      "journal-title": "Neuron"
    },
    {
      "key": "ref3",
      "doi-asserted-by": "crossref",
      "first-page": "415",
      "DOI": "10.1016/j.neuron.2013.10.015",
      "article-title": "RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention",
      "volume": "80",
      "author": "CJ Donnelly",
      "year": "2013",
      "journal-title": "Neuron"
    },
    {
      "key": "ref4",
      "doi-asserted-by": "crossref",
      "DOI": "10.1126/scitranslmed.3007529",
      "article-title": "Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion",
      "volume": "5",
      "author": "D Sareen",
      "year": "2013",
      "journal-title": "Science Translational Medicine"
    },
    {
      "key": "ref5",
      "doi-asserted-by": "crossref",
      "first-page": "E4530",
      "DOI": "10.1073/pnas.1318835110",
      "article-title": "Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration",
      "volume": "110",
      "author": "C Lagier-Tourenne",
      "year": "2013",
      "journal-title": "Proc Natl Acad Sci U S A"
    },
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      "doi-asserted-by": "crossref",
      "first-page": "845",
      "DOI": "10.1007/s00401-013-1200-z",
      "article-title": "C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci",
      "volume": "126",
      "author": "S Mizielinska",
      "year": "2013",
      "journal-title": "Acta Neuropathol"
    },
    {
      "key": "ref7",
      "doi-asserted-by": "crossref",
      "first-page": "1178",
      "DOI": "10.1016/j.celrep.2013.10.049",
      "article-title": "Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic",
      "volume": "5",
      "author": "YB Lee",
      "year": "2013",
      "journal-title": "Cell Rep"
    },
    {
      "key": "ref8",
      "doi-asserted-by": "crossref",
      "first-page": "2040",
      "DOI": "10.1093/brain/awu120",
      "article-title": "Sequestration of multiple RNA Recognition Motif-containing proteins by C9ORF72 repeat expansions",
      "volume": "137",
      "author": "J Cooper-Knock",
      "year": "2014",
      "journal-title": "Brain"
    },
    {
      "key": "ref9",
      "doi-asserted-by": "crossref",
      "first-page": "639",
      "DOI": "10.1016/j.neuron.2013.02.004",
      "article-title": "Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS",
      "volume": "77",
      "author": "PE Ash",
      "year": "2013",
      "journal-title": "Neuron"
    },
    {
      "key": "ref10",
      "doi-asserted-by": "crossref",
      "first-page": "859",
      "DOI": "10.1007/s00401-013-1181-y",
      "article-title": "Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations",
      "volume": "126",
      "author": "IR Mackenzie",
      "year": "2013",
      "journal-title": "Acta Neuropathol"
    },
    {
      "key": "ref11",
      "doi-asserted-by": "crossref",
      "first-page": "1335",
      "DOI": "10.1126/science.1232927",
      "article-title": "The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS",
      "volume": "339",
      "author": "K Mori",
      "year": "2013",
      "journal-title": "Science"
    },
    {
      "key": "ref12",
      "doi-asserted-by": "crossref",
      "first-page": "333",
      "DOI": "10.1007/s00401-014-1251-9",
      "article-title": "The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype",
      "volume": "127",
      "author": "J Cooper-Knock",
      "year": "2014",
      "journal-title": "Acta Neuropathol"
    },
    {
      "key": "ref13",
      "doi-asserted-by": "crossref",
      "first-page": "e1001236",
      "DOI": "10.1371/journal.pgen.1001236",
      "article-title": "Noisy splicing drives mRNA isoform diversity in human cells",
      "volume": "6",
      "author": "JK Pickrell",
      "year": "2014",
      "journal-title": "PLoS Genet"
    },
    {
      "key": "ref14",
      "doi-asserted-by": "crossref",
      "first-page": "408681",
      "DOI": "10.1155/2013/408681",
      "article-title": "Redox regulation in amyotrophic lateral sclerosis",
      "volume": "2013",
      "author": "S Parakh",
      "year": "2013",
      "journal-title": "Oxid Med Cell Longev"
    },
    {
      "key": "ref15",
      "doi-asserted-by": "crossref",
      "first-page": "733",
      "DOI": "10.1111/j.1468-1331.2009.02923.x",
      "article-title": "ALS disease onset may occur later in patients with pre-morbid diabetes mellitus",
      "volume": "17",
      "author": "A Jawaid",
      "year": "2010",
      "journal-title": "Eur J Neurol"
    },
    {
      "key": "ref16",
      "doi-asserted-by": "crossref",
      "first-page": "1",
      "DOI": "10.1016/j.pneurobio.2009.01.007",
      "article-title": "Neural cell cycle dysregulation and central nervous system diseases",
      "volume": "89",
      "author": "W Wang",
      "year": "2009",
      "journal-title": "Prog Neurobiol"
    },
    {
      "key": "ref17",
      "doi-asserted-by": "crossref",
      "first-page": "518",
      "DOI": "10.1038/nrneurol.2012.156",
      "article-title": "Gene expression profiling in human neurodegenerative disease",
      "volume": "8",
      "author": "J Cooper-Knock",
      "year": "2012",
      "journal-title": "Nat Rev Neurol"
    },
    {
      "key": "ref18",
      "doi-asserted-by": "crossref",
      "first-page": "674751",
      "DOI": "10.1155/2013/674751",
      "article-title": "ER Dysfunction and Protein Folding Stress in ALS",
      "volume": "2013",
      "author": "S Matus",
      "year": "2013",
      "journal-title": "Int J Cell Biol"
    },
    {
      "key": "ref19",
      "doi-asserted-by": "crossref",
      "first-page": "695",
      "DOI": "10.1016/j.nbd.2010.12.005",
      "article-title": "Evidence of endoplasmic reticular stress in the spinal motor neurons exposed to CSF from sporadic amyotrophic lateral sclerosis patients",
      "volume": "41",
      "author": "K Vijayalakshmi",
      "year": "2011",
      "journal-title": "Neurobiol Dis"
    },
    {
      "key": "ref20",
      "doi-asserted-by": "crossref",
      "first-page": "94",
      "DOI": "10.1194/jlr.M043299",
      "article-title": "Endoplasmic reticulum stress impairs cholesterol efflux and synthesis in hepatic cells",
      "volume": "55",
      "author": "C Rohrl",
      "year": "2014",
      "journal-title": "J Lipid Res"
    },
    {
      "key": "ref21",
      "doi-asserted-by": "crossref",
      "first-page": "201",
      "DOI": "10.1111/nan.12147",
      "article-title": "Gene expression signatures in motor neuron disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions",
      "volume": "41",
      "author": "R Raman",
      "year": "2015",
      "journal-title": "Neuropathol Appl Neurobiol"
    },
    {
      "key": "ref22",
      "doi-asserted-by": "crossref",
      "first-page": "777",
      "DOI": "10.1007/s00401-013-1125-6",
      "article-title": "Protein aggregation in amyotrophic lateral sclerosis",
      "volume": "125",
      "author": "AM Blokhuis",
      "year": "2013",
      "journal-title": "Acta Neuropathol"
    },
    {
      "key": "ref23",
      "doi-asserted-by": "crossref",
      "first-page": "857",
      "DOI": "10.1016/j.neuron.2010.11.036",
      "article-title": "Exome sequencing reveals VCP mutations as a cause of familial ALS",
      "volume": "68",
      "author": "JO Johnson",
      "year": "2010",
      "journal-title": "Neuron"
    },
    {
      "key": "ref24",
      "doi-asserted-by": "crossref",
      "first-page": "211",
      "DOI": "10.1038/nature10353",
      "article-title": "Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia",
      "volume": "477",
      "author": "HX Deng",
      "year": "2011",
      "journal-title": "Nature"
    },
    {
      "key": "ref25",
      "doi-asserted-by": "crossref",
      "first-page": "500",
      "DOI": "10.1016/S1474-4422(05)70142-3",
      "article-title": "Apoptosis in amyotrophic lateral sclerosis\u2014what is the evidence?",
      "volume": "4",
      "author": "S Sathasivam",
      "year": "2005",
      "journal-title": "Lancet Neurol"
    },
    {
      "key": "ref26",
      "doi-asserted-by": "crossref",
      "first-page": "413",
      "DOI": "10.1007/s00401-013-1088-7",
      "article-title": "hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations",
      "volume": "125",
      "author": "K Mori",
      "year": "2013",
      "journal-title": "Acta Neuropathol"
    },
    {
      "key": "ref27",
      "doi-asserted-by": "crossref",
      "first-page": "195",
      "DOI": "10.1038/nature13124",
      "article-title": "C9orf72 nucleotide repeat structures initiate molecular cascades of disease",
      "volume": "507",
      "author": "AR Haeusler",
      "year": "2014",
      "journal-title": "Nature"
    },
    {
      "key": "ref28",
      "doi-asserted-by": "crossref",
      "first-page": "12",
      "DOI": "10.1186/1750-1326-8-12",
      "article-title": "Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation",
      "volume": "8",
      "author": "VL Buchman",
      "year": "2013",
      "journal-title": "Mol Neurodegener"
    },
    {
      "key": "ref29",
      "doi-asserted-by": "crossref",
      "first-page": "79",
      "DOI": "10.1136/jnnp-2012-303326",
      "article-title": "Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72",
      "volume": "84",
      "author": "A Ismail",
      "year": "2013",
      "journal-title": "J Neurol Neurosurg Psychiatry"
    },
    {
      "key": "ref30",
      "first-page": "162",
      "article-title": "Neuropathological diagnoses in elderly patients in Oslo: Alzheimer&apos;s disease, Lewy body disease, vascular lesions",
      "volume": "6",
      "author": "PG Ince",
      "year": "1995",
      "journal-title": "Dementia"
    },
    {
      "key": "ref31",
      "doi-asserted-by": "crossref",
      "first-page": "9201",
      "DOI": "10.1523/JNEUROSCI.1470-07.2007",
      "article-title": "Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS",
      "volume": "27",
      "author": "L Ferraiuolo",
      "year": "2007",
      "journal-title": "J Neurosci"
    },
    {
      "key": "ref32",
      "doi-asserted-by": "crossref",
      "first-page": "211",
      "DOI": "10.1186/1471-2105-10-211",
      "article-title": "puma: a Bioconductor package for propagating uncertainty in microarray analysis",
      "volume": "10",
      "author": "RD Pearson",
      "year": "2009",
      "journal-title": "BMC Bioinformatics"
    },
    {
      "key": "ref33",
      "doi-asserted-by": "crossref",
      "first-page": "37",
      "DOI": "10.1093/bib/bbk003",
      "article-title": "Propagating uncertainty in microarray data analysis",
      "volume": "7",
      "author": "M Rattray",
      "year": "2006",
      "journal-title": "Brief Bioinform"
    },
    {
      "key": "ref34",
      "doi-asserted-by": "crossref",
      "first-page": "e130",
      "DOI": "10.1371/journal.pgen.0020130",
      "article-title": "Integrating genetic and network analysis to characterize genes related to mouse weight",
      "volume": "2",
      "author": "A Ghazalpour",
      "year": "2006",
      "journal-title": "PLoS Genet"
    },
    {
      "key": "ref35",
      "doi-asserted-by": "crossref",
      "first-page": "559",
      "DOI": "10.1186/1471-2105-9-559",
      "article-title": "WGCNA: an R package for weighted correlation network analysis",
      "volume": "9",
      "author": "P Langfelder",
      "year": "2008",
      "journal-title": "BMC Bioinformatics"
    },
    {
      "key": "ref36",
      "doi-asserted-by": "crossref",
      "first-page": "44",
      "DOI": "10.1038/nprot.2008.211",
      "article-title": "Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources",
      "volume": "4",
      "author": "DW Huang",
      "year": "2008",
      "journal-title": "Nat Protocols"
    },
    {
      "key": "ref37",
      "doi-asserted-by": "crossref",
      "first-page": "1",
      "DOI": "10.1093/nar/gkn923",
      "article-title": "Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists",
      "volume": "37",
      "author": "DW Huang",
      "year": "2009",
      "journal-title": "Nucleic Acids Research"
    },
    {
      "key": "ref38",
      "doi-asserted-by": "crossref",
      "first-page": "1707",
      "DOI": "10.1093/bioinformatics/btn284",
      "article-title": "FIRMA: a method for detection of alternative splicing from exon array data",
      "volume": "24",
      "author": "E Purdom",
      "year": "2008",
      "journal-title": "Bioinformatics"
    },
    {
      "key": "ref39",
      "unstructured": "Bengtsson H, Simpson K, Bullard J, Hansen K. aroma.affymetrix: A generic framework in R for analyzing small to very large Affymetrix data sets in bounded memory. 2008; Tech Report #745, Department of Statistics, University of California, Berkeley."
    },
    {
      "key": "ref40",
      "doi-asserted-by": "crossref",
      "first-page": "32",
      "DOI": "10.1186/gm248",
      "article-title": "Transcriptome instability in colorectal cancer identified by exon microarray analyses: Associations with splicing factor expression levels and patient survival",
      "volume": "3",
      "author": "A Sveen",
      "year": "2011",
      "journal-title": "Genome Med"
    },
    {
      "key": "ref41",
      "doi-asserted-by": "crossref",
      "first-page": "1686",
      "DOI": "10.1093/brain/awh503",
      "article-title": "Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS",
      "volume": "128",
      "author": "J Kirby",
      "year": "2005",
      "journal-title": "Brain"
    }
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