2020
Functional annotation of rare structural variation in the human brain
Han L, Zhao X, Benton ML, Perumal T, Collins RL, Hoffman GE, Johnson JS, Sloofman L, Wang HZ, Stone MR, Brennand K, Brand H, Sieberts S, Marenco S, Peters M, Lipska B, Roussos P, Capra J, Talkowski M, Ruderfer D. Functional annotation of rare structural variation in the human brain. Nature Communications 2020, 11: 2990. PMID: 32533064, PMCID: PMC7293301, DOI: 10.1038/s41467-020-16736-1.Peer-Reviewed Original Research
2016
Spatial genome organization and cognition
Rajarajan P, Gil S, Brennand K, Akbarian S. Spatial genome organization and cognition. Nature Reviews Neuroscience 2016, 17: 681-691. PMID: 27708356, PMCID: PMC5503467, DOI: 10.1038/nrn.2016.124.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsPromoter-enhancer interactionsRegulatory sequencesGene transcription start siteSpatial genome organizationNon-coding DNACis-regulatory sequencesHundreds of kilobasesTranscription start siteCRISPR-Cas systemsChromosomal loopingGenome organizationTranscriptional activatorChromosomal conformationCohesin complexGenetic risk architectureTranscriptional regulationStart siteCandidate genesGene expressionStructural variantsDecoy modelsNeurodevelopmental diseasesCrucial layerEditing techniquesProgenitor cells