2023
Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies
Liao C, Moyses-Oliveira M, De Esch C, Bhavsar R, Nuttle X, Li A, Yu A, Burt N, Erdin S, Fu J, Wang M, Morley T, Han L, Consortium C, Dion P, Rouleau G, Zhang B, Brennand K, Talkowski M, Ruderfer D. Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies. Cell Genomics 2023, 3: 100277. PMID: 37082147, PMCID: PMC10112287, DOI: 10.1016/j.xgen.2023.100277.Peer-Reviewed Original ResearchRisk genesNovel risk genesProtein-altering variantsLarge-scale genetic studiesASD risk genesHeritable neurodevelopmental disorderAutism-associated genesCRISPR perturbationsConvergent genesNovel genesTranscriptional consequencesFunctional mutationsGenetic studiesCoexpression patternsDifferential expressionGenesHuman neuronsASD-associationHuman postmortem brainRare variationCoexpressionASD brainNeurodevelopmental disordersPostmortem brainsMutations
2018
Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS
Dobbyn A, Huckins L, Boocock J, Sloofman L, Glicksberg B, Giambartolomei C, Hoffman G, Perumal T, Girdhar K, Jiang Y, Raj T, Ruderfer D, Kramer R, Pinto D, Akbarian S, Roussos P, Domenici E, Devlin B, Sklar P, Stahl E, Sieberts S, Sklar P, Buxbaum J, Devlin B, Lewis D, Gur R, Hahn C, Hirai K, Toyoshiba H, Domenici E, Essioux L, Mangravite L, Peters M, Lehner T, Lipska B, Cicek A, Lu C, Roeder K, Xie L, Talbot K, Hemby S, Essioux L, Browne A, Chess A, Topol A, Charney A, Dobbyn A, Readhead B, Zhang B, Pinto D, Bennett D, Kavanagh D, Ruderfer D, Stahl E, Schadt E, Hoffman G, Shah H, Zhu J, Johnson J, Fullard J, Dudley J, Girdhar K, Brennand K, Sloofman L, Huckins L, Fromer M, Mahajan M, Roussos P, Akbarian S, Purcell S, Hamamsy T, Raj T, Haroutunian V, Wang Y, Gümüş Z, Senthil G, Kramer R, Logsdon B, Derry J, Dang K, Sieberts S, Perumal T, Visintainer R, Shinobu L, Sullivan P, Klei L. Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS. American Journal Of Human Genetics 2018, 102: 1169-1184. PMID: 29805045, PMCID: PMC5993513, DOI: 10.1016/j.ajhg.2018.04.011.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociConditional expression quantitative trait lociCommonMind ConsortiumEQTL signalsGenome-wide association study (GWAS) lociSchizophrenia GWASContext-specific regulationQuantitative trait lociCo-localization analysisGene expression levelsGWAS associationsNovel genesTrait lociStudy lociCausal genesEQTL dataFine mappingGenomic featuresGWAS statisticsGene expressionGenesGWASLociExpression levelsHuman brain samples