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 analysis
2010
L-Histidine Decarboxylase and Tourette's Syndrome
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.Peer-Reviewed Original ResearchConceptsRare functional mutationsL-histidine decarboxylaseRate-limiting enzymeHDC geneTwo-generation pedigreeFunctional mutationsStrong genetic contributionHistamine biosynthesisAnalysis of linkageGenetic contributionModel systemRisk allelesDevelopmental neuropsychiatric disordersDecarboxylaseBiosynthesisGenesTourette syndromeMutationsAllelesEnzymeInheritanceNeuropsychiatric disordersPedigree