{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T20:18:38Z","timestamp":1777666718347,"version":"3.51.4"},"reference-count":70,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2009,12,31]],"date-time":"2009-12-31T00:00:00Z","timestamp":1262217600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0008491","type":"journal-article","created":{"date-parts":[[2009,12,30]],"date-time":"2009-12-30T21:19:46Z","timestamp":1262207986000},"page":"e8491","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":32,"title":["Disease Gene Characterization through Large-Scale Co-Expression Analysis"],"prefix":"10.1371","volume":"4","author":[{"given":"Allen","family":"Day","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent A.","family":"Funari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bret","family":"Harry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel P.","family":"Strom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan H.","family":"Cohn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanley F.","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2009,12,31]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"e1000034","DOI":"10.1371\/journal.pgen.1000034","article-title":"Genetic networks of liver metabolism revealed by integration of metabolic and transcriptional profiling.","volume":"4","author":"C Ferrara","year":"2008","journal-title":"PLoS Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1038\/ng.2007.70","article-title":"A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans.","volume":"40","author":"I Lee","year":"2008","journal-title":"Nat Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"3647","DOI":"10.1093\/bioinformatics\/bth398","article-title":"CSB.DB: a comprehensive systems-biology database.","volume":"20","author":"D Steinhauser","year":"2004","journal-title":"Bioinformatics"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1928","DOI":"10.1093\/bioinformatics\/bth182","article-title":"Hypothesis-driven approach to predict transcriptional units from gene expression data.","volume":"20","author":"D Steinhauser","year":"2004","journal-title":"Bioinformatics"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1126\/science.270.5235.467","article-title":"Quantitative monitoring of gene expression patterns with a complementary DNA microarray.","volume":"270","author":"M Schena","year":"1995","journal-title":"Science"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1038\/nbt1296-1675","article-title":"Expression monitoring by hybridization to high-density oligonucleotide arrays.","volume":"14","author":"D Lockhart","year":"1996","journal-title":"Nat Biotechnol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1038\/ng.166","article-title":"Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.","volume":"40","author":"M Rock","year":"2008","journal-title":"Nat Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.ajhg.2008.12.001","article-title":"A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.","volume":"84","author":"S Tompson","year":"2009","journal-title":"Am J Hum Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1186\/1471-2105-9-528","article-title":"Gene Prospector: an evidence gateway for evaluating potential susceptibility genes and interacting risk factors for human diseases.","volume":"9","author":"W Yu","year":"2008","journal-title":"BMC Bioinformatics"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.ajhg.2008.02.013","article-title":"Walking the interactome for prioritization of candidate disease genes.","volume":"82","author":"S K\u00f6hler","year":"2008","journal-title":"Am J Hum Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1093\/bioinformatics\/btk031","article-title":"SUSPECTS: enabling fast and effective prioritization of positional candidates.","volume":"22","author":"E Adie","year":"2006","journal-title":"Bioinformatics"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1093\/bioinformatics\/btn054","article-title":"Statistical search on the Semantic Web.","volume":"24","author":"N Kobayashi","year":"2008","journal-title":"Bioinformatics"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1375\/twin.10.6.861","article-title":"Prioritization of positional candidate genes using multiple web-based software tools.","volume":"10","author":"T Thornblad","year":"2007","journal-title":"Twin Res Hum Genet"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"e3874","DOI":"10.1371\/journal.pone.0003874","article-title":"GeneDistiller\u2013distilling candidate genes from linkage intervals.","volume":"3","author":"D Seelow","year":"2008","journal-title":"PLoS One"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/nbt1203","article-title":"Gene prioritization through genomic data fusion.","volume":"24","author":"S Aerts","year":"2006","journal-title":"Nat Biotechnol"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"W305","DOI":"10.1093\/nar\/gkp427","article-title":"ToppGene Suite for gene list enrichment analysis and candidate gene prioritization.","volume":"37","author":"J Chen","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"6062","DOI":"10.1073\/pnas.0400782101","article-title":"A gene atlas of the mouse and human protein-encoding transcriptomes.","volume":"101","author":"A Su","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"8998","DOI":"10.1073\/pnas.132080999","article-title":"Deciphering peripheral nerve myelination by using Schwann cell expression profiling.","volume":"99","author":"R Nagarajan","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"W285","DOI":"10.1093\/nar\/gkl340","article-title":"TOM: a web-based integrated approach for identification of candidate disease genes.","volume":"34","author":"S Rossi","year":"2006","journal-title":"Nucleic Acids Res"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1471-2164-7-40","article-title":"Gene connectivity, function, and sequence conservation: predictions from modular yeast co-expression networks.","volume":"7","author":"M Carlson","year":"2006","journal-title":"BMC Genomics"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"17402","DOI":"10.1073\/pnas.0608396103","article-title":"Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target.","volume":"103","author":"S Horvath","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"R22","DOI":"10.1186\/gb-2005-6-3-r22","article-title":"A DNA microarray survey of gene expression in normal human tissues.","volume":"6","author":"R Shyamsundar","year":"2005","journal-title":"Genome Biol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"e1880","DOI":"10.1371\/journal.pone.0001880","article-title":"Physiology, pathology and relatedness of human tissues from gene expression meta-analysis.","volume":"3","author":"D Greco","year":"2008","journal-title":"PLoS One"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1038\/sj.bjc.6604207","article-title":"Approaches to working in high-dimensional data spaces: gene expression microarrays.","volume":"98","author":"Y Wang","year":"2008","journal-title":"Br J Cancer"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S1476-5586(04)80047-2","article-title":"ONCOMINE: a cancer microarray database and integrated data-mining platform.","volume":"6","author":"D Rhodes","journal-title":"Neoplasia"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1186\/1471-2164-8-419","article-title":"Identification of novel pathway partners of p68 and p72 RNA helicases through Oncomine meta-analysis.","volume":"8","author":"B Wilson","year":"2007","journal-title":"BMC Genomics"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1593\/neo.07112","article-title":"Oncomine 3.0: genes, pathways, and networks in a collection of 18,000 cancer gene expression profiles.","volume":"9","author":"D Rhodes","year":"2007","journal-title":"Neoplasia"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1152\/physiolgenomics.00313.2005","article-title":"Detecting and profiling tissue-selective genes.","volume":"26","author":"S Liang","year":"2006","journal-title":"Physiol Genomics"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1093\/bioinformatics\/btl005","article-title":"The MGED Ontology: a resource for semantics-based description of microarray experiments.","volume":"22","author":"P Whetzel","year":"2006","journal-title":"Bioinformatics"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"RESEARCH0046","DOI":"10.1186\/gb-2002-3-9-research0046","article-title":"Design and implementation of microarray gene expression markup language (MAGE-ML).","volume":"3","author":"P Spellman","year":"2002","journal-title":"Genome Biol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1038\/ng1201-365","article-title":"Minimum information about a microarray experiment (MIAME)-toward standards for microarray data.","volume":"29","author":"A Brazma","year":"2001","journal-title":"Nat Genet"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"R112","DOI":"10.1186\/gb-2007-8-6-r112","article-title":"Celsius: a community resource for Affymetrix microarray data.","volume":"8","author":"A Day","year":"2007","journal-title":"Genome Biol"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1186\/1471-2164-8-165","article-title":"Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression.","volume":"8","author":"V Funari","year":"2007","journal-title":"BMC Genomics"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1093\/nar\/gkg121","article-title":"NetAffx: Affymetrix probesets and annotations.","volume":"31","author":"G Liu","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1038\/nmeth0409-239","article-title":"The UCSC Cancer Genomics Browser.","volume":"6","author":"J Zhu","year":"2009","journal-title":"Nat Methods"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"R80","DOI":"10.1186\/gb-2004-5-10-r80","article-title":"Bioconductor: open software development for computational biology and bioinformatics.","volume":"5","author":"R Gentleman","year":"2004","journal-title":"Genome Biol"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"D258","DOI":"10.1093\/nar\/gkh036","article-title":"The Gene Ontology (GO) database and informatics resource.","volume":"32","author":"M Harris","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1093\/nar\/gng015","article-title":"Summaries of Affymetrix GeneChip probe level data.","volume":"31","author":"R Irizarry","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1086\/514346","article-title":"Mendelian Inheritance in Man and its online version, OMIM.","volume":"80","author":"V McKusick","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"D724","DOI":"10.1093\/nar\/gkm961","article-title":"The Mouse Genome Database (MGD): mouse biology and model systems.","volume":"36","author":"C Bult","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/ng0196-103","article-title":"A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).","volume":"12","author":"Y Muragaki","year":"1996","journal-title":"Nat Genet"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejmg.2007.11.003","article-title":"Genotypes and phenotypes of Joubert syndrome and related disorders.","volume":"51","author":"E Valente","year":"2008","journal-title":"Eur J Med Genet"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1086\/301966","article-title":"Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.","volume":"63","author":"A Jackson","year":"1998","journal-title":"Am J Hum Genet"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1097\/WCO.0b013e32830efdc2","article-title":"Limb-girdle muscular dystrophies.","volume":"21","author":"M Guglieri","year":"2008","journal-title":"Curr Opin Neurol"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1007\/s00467-005-2054-y","article-title":"Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.","volume":"21","author":"B Utsch","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1086\/421846","article-title":"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.","volume":"75","author":"M Parisi","year":"2004","journal-title":"Am J Hum Genet"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/ng1805","article-title":"Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.","volume":"38","author":"E Valente","year":"2006","journal-title":"Nat Genet"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ng2039","article-title":"The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.","volume":"39","author":"M Delous","year":"2007","journal-title":"Nat Genet"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1086\/510499","article-title":"The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.","volume":"80","author":"L Baala","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1038\/ng.423","article-title":"Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.","volume":"41","author":"S Bielas","year":"2009","journal-title":"Nat Genet"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1086\/425985","article-title":"Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.","volume":"75","author":"T Dixon-Salazar","year":"2004","journal-title":"Am J Hum Genet"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/ng1419","article-title":"Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.","volume":"36","author":"R Ferland","year":"2004","journal-title":"Nat Genet"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/ng1786","article-title":"The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.","volume":"38","author":"J Sayer","year":"2006","journal-title":"Nat Genet"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1038\/ng2069","article-title":"Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.","volume":"39","author":"H Arts","year":"2007","journal-title":"Nat Genet"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1086\/378206","article-title":"Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.","volume":"73","author":"L Keeler","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref56","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1086\/378241","article-title":"Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.","volume":"73","author":"E Valente","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref57","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/ana.20422","article-title":"Distinguishing the four genetic causes of Jouberts syndrome-related disorders.","volume":"57","author":"E Valente","year":"2005","journal-title":"Ann Neurol"},{"key":"ref58","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1017\/S0033291700028099","article-title":"Autism as a strongly genetic disorder: evidence from a British twin study.","volume":"25","author":"A Bailey","year":"1995","journal-title":"Psychol Med"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1111\/j.1469-7610.1991.tb01928.x","article-title":"Debate and argument. Concordance for the syndrome of autism.","volume":"32","author":"E Ritvo","year":"1991","journal-title":"J Child Psychol Psychiatry"},{"key":"ref60","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/nrg2346","article-title":"Advances in autism genetics: on the threshold of a new neurobiology.","volume":"9","author":"B Abrahams","year":"2008","journal-title":"Nat Rev Genet"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"8685","DOI":"10.1073\/pnas.0701361104","article-title":"The human disease network.","volume":"104","author":"K Goh","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref62","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1093\/hmg\/ddm376","article-title":"Recurrent 16p11.2 microdeletions in autism.","volume":"17","author":"R Kumar","year":"2008","journal-title":"Hum Mol Genet"},{"key":"ref63","article-title":"High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.","author":"S Strom","year":"2009","journal-title":"Mol Psychiatry"},{"key":"ref64","article-title":"High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.","author":"E Maestrini","year":"2009","journal-title":"Mol Psychiatry"},{"key":"ref65","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.psychres.2004.03.003","article-title":"Analysis of SYNJ1, a candidate gene for 21q22 linked bipolar disorder: a replication study.","volume":"127","author":"P Stopkova","year":"2004","journal-title":"Psychiatry Res"},{"key":"ref66","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1523\/JNEUROSCI.19-05-01610.1999","article-title":"Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.","volume":"19","author":"M Hans","year":"1999","journal-title":"J Neurosci"},{"key":"ref67","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1016\/j.biopsych.2008.02.005","article-title":"Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3.","volume":"63","author":"R Verma","year":"2008","journal-title":"Biol Psychiatry"},{"key":"ref68","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.neuron.2004.06.028","article-title":"Mutations in the Na+\/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.","volume":"43","author":"P de Carvalho Aguiar","year":"2004","journal-title":"Neuron"},{"key":"ref69","article-title":"Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha.","author":"L Carroll","year":"2009","journal-title":"Mol Psychiatry"},{"key":"ref70","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1007\/s11920-008-0027-0","article-title":"NOS1AP in schizophrenia.","volume":"10","author":"L Brzustowicz","year":"2008","journal-title":"Curr Psychiatry Rep"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0008491","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T03:20:09Z","timestamp":1588994409000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0008491"}},"subtitle":[],"editor":[{"given":"Chad","family":"Creighton","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2009,12,31]]},"references-count":70,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2009,12,31]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0008491","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12,31]]}}}