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
2006
Recent Advances in the Genetics of Autism
Gupta AR, State MW. Recent Advances in the Genetics of Autism. Biological Psychiatry 2006, 61: 429-437. PMID: 16996486, DOI: 10.1016/j.biopsych.2006.06.020.Peer-Reviewed Original ResearchConceptsGenomic technologiesGene discovery effortsCandidate gene association studiesHuman Genome ProjectGenetics of autismGene association studiesGenome ProjectAssociation studiesDiscovery effortsSpecific genetic etiologiesGenetic originGenetic etiologyRecent linkageGenetic disordersSolid cluesRecent advancesDeoxyribonucleic acid samplesGeneticsHeritabilityPotential contributionPromising avenueAutism spectrum disorderAutismo: genética
Gupta AR, State MW. Autismo: genética. Brazilian Journal Of Psychiatry 2006, 28: s29-s38. PMID: 16791389, DOI: 10.1590/s1516-44462006000500005.Peer-Reviewed Original ResearchMeSH KeywordsAutistic DisorderCytogenetic AnalysisGenetic LinkageGenetic MarkersHuman Genome ProjectHumansPhenotypeConceptsMultiple interacting lociHuman Genome ProjectCandidate gene studiesGene discoveryInteracting lociGenome ProjectGenomic technologiesResults of linkageGene studiesLikely involvementGenetic etiologyPhenotypic heterogeneityGenetic disordersSolid cluesBiological originRecent progressLociHeritabilityGenética