2012
Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility
Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang Y, Sun ZS. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Human Mutation 2012, 33: 1635-1638. PMID: 22865819, DOI: 10.1002/humu.22174.Peer-Reviewed Original ResearchConceptsExtensive bioinformatics analysisNext-generation sequencing technologiesExtreme genetic heterogeneityStrong genetic etiologyGene discoveryWhole-exome sequencesDifferent missense mutationsBioinformatics analysisSequencing technologiesAutism susceptibilityMissense mutationsANK3Genetic heterogeneityMutationsNovo mutationsExome sequencingMolecular pathophysiologyGenetic causeGenetic etiologyASD susceptibilitySynaptic functionNovel mutationsNeurodevelopmental disordersGenesSequencing
2011
Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder
Campbell D, Datta D, Jones S, Batey Lee E, Sutcliffe J, Hammock E, Levitt P. Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder. Journal Of Neurodevelopmental Disorders 2011, 3: 101-112. PMID: 21484202, PMCID: PMC3113442, DOI: 10.1007/s11689-010-9071-2.Peer-Reviewed Original ResearchAutism spectrum disorderASD susceptibilitySocial behaviorGenetic association analysisSpectrum disorderGenetic variationOxytocin receptor gene variantsGenetic polymorphismsGenetic markersAssociation analysisLines of evidenceCommon genetic polymorphismsPhenotype domainsCore deficitBehavioral flexibilityOXTR polymorphismsPolymorphismOXTR geneGene variantsASD phenotypeSubset of familiesASD riskCurrent findingsLarge independent cohortsFunctional polymorphisms
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