2013
Genetic Susceptibility in Tourette Syndrome
Fernandez T, State M. Genetic Susceptibility in Tourette Syndrome. 2013, 137-155. DOI: 10.1093/med/9780199796267.003.0007.ChaptersRare copy number variantsCopy number variantsAssociation studiesGenome-wide association studiesGenome-wide detectionNumber variantsCommon complex traitsCandidate gene association studiesHuman genetic studiesComplex genetic contributionsRare variant studiesEtiology of TSCausative genetic lociGene association studiesComplex traitsNonparametric linkage analysisGene mappingDeleterious mutationsEarlier segregation analysisGenetic lociHDC genePathway analysisTS familyGenetic studiesLinkage analysisChapter Six Genetic Susceptibility and Neurotransmitters in Tourette Syndrome
Paschou P, Fernandez TV, Sharp F, Heiman GA, Hoekstra PJ. Chapter Six Genetic Susceptibility and Neurotransmitters in Tourette Syndrome. International Review Of Neurobiology 2013, 112: 155-177. PMID: 24295621, PMCID: PMC4471172, DOI: 10.1016/b978-0-12-411546-0.00006-8.ChaptersConceptsGene expression findingsExpression findingsEtiology of TSGenetic workTwo-generation pedigreeTs phenotypeMolecular baseGenetic contributionTourette syndromeLikely interactionsMultifactorial inheritanceSegregation studiesNeurotransmitter systemsAutosomal dominant disorderGenetic factorsDynamic interplayGenetic susceptibilityNew treatment optionsExtracellular dopamine levelsGamma-aminobutyric acidDominant disorderGenesTreatment optionsCortico-striatoDopamine levels
2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathway