2020
Cutting-edge genetics in obsessive-compulsive disorder
Saraiva L, Cappi C, Simpson H, Stein D, Viswanath B, van den Heuvel O, Reddy Y, Miguel E, Shavitt R. Cutting-edge genetics in obsessive-compulsive disorder. Faculty Reviews 2020, 9: 30. PMID: 33659962, PMCID: PMC7886082, DOI: 10.12703/r/9-30.Peer-Reviewed Original ResearchGenetic architectureWide association studyNumber variation studiesCutting-edge geneticsWhole-exome sequencing studiesUnderlying biological pathwaysHuman cell modelsGene networksStudy of endophenotypesGene expressionBiological pathwaysSequencing studiesAssociation studiesAnimal systemsGeneticsGene-environment interactionsCell modelBiological basisPolygenic risk scoresEvidence pointsSynaptic transmissionRecent advancesVariation studiesExperimental animal systemsNeuropsychiatric disorders
2016
Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways
Cappi C, Brentani H, Lima L, Sanders SJ, Zai G, Diniz BJ, Reis VN, Hounie AG, Conceição do Rosário M, Mariani D, Requena GL, Puga R, Souza-Duran FL, Shavitt RG, Pauls DL, Miguel EC, Fernandez TV. Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Translational Psychiatry 2016, 6: e764-e764. PMID: 27023170, PMCID: PMC4872454, DOI: 10.1038/tp.2016.30.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsPPI networkPathway analysisProtein-protein interaction networkGenome-wide association studiesNovo single nucleotide variantsParticular biological pathwaysRare genetic variationDisease gene prioritizationDirect molecular interactionWhole-exome sequencing studiesGene discoveryNetwork genesSpecific risk genesNetwork enrichmentGenetic variationInteraction networksGene prioritizationCandidate genesAssociation studiesBiological pathwaysSequencing platformsSequencing studiesWhole-exome sequencingGenes