2023
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.Peer-Reviewed Original ResearchConceptsRisk genesDe novo damaging variantsGene expression patternsWhole-exome DNA sequencingMid-fetal developmentAdditional risk genesHigh-confidence risk genesParent-child triosGene OntologyCell signalingExpression patternsCalcium ion transportFunctional convergenceCell cycleDamaging variantsGenesDNA sequencingDe novoASD probandsGenetic etiologyBiological mechanismsSequencingDNANetwork analysisIon transport
2022
Whole‐exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants
Olfson E, Lebowitz ER, Hommel G, Pashankar N, Silverman WK, Fernandez TV. Whole‐exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants. Depression And Anxiety 2022, 39: 474-484. PMID: 35312124, PMCID: PMC9246845, DOI: 10.1002/da.23251.Peer-Reviewed Original ResearchConceptsWhole-exome DNA sequencingRisk genesDNA sequencingCanonical biological pathwaysMissense genetic variantsNovo variantsGenetic variant detectionParent-child triosGenomic approachesDe novo variantsLikely geneBiologic pathwaysDeleterious variantsBiological pathwaysDamaging variantsGenesGenetic variantsPathwayVariant detectionSequencingNetwork analysisGenetic factorsUnderlying biologyVariantsEnrichment
2014
Transcriptome Analysis of the Human Striatum in Tourette Syndrome
Lennington JB, Coppola G, Kataoka-Sasaki Y, Fernandez TV, Palejev D, Li Y, Huttner A, Pletikos M, Sestan N, Leckman JF, Vaccarino FM. Transcriptome Analysis of the Human Striatum in Tourette Syndrome. Biological Psychiatry 2014, 79: 372-382. PMID: 25199956, PMCID: PMC4305353, DOI: 10.1016/j.biopsych.2014.07.018.Peer-Reviewed Original ResearchConceptsCopy number variantsGenome-wide association studiesGene coexpression modulesNumber variantsGene network analysisCommon genetic variantsCoexpression modulesUpregulated genesMetabolism modulesImmune-related genesNetwork analysisAssociation studiesDifferential expressionUpregulated modulesGenetic variantsGenesPatient's striatumTS individualsTranscriptomeVariantsMetabolic alterationsSame regionGamma-aminobutyric acidergic interneuronsTranscriptsRNA