2012
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways
Griswold A, Ma D, Cukier H, Nations L, Schmidt M, Chung R, Jaworski J, Salyakina D, Konidari I, Whitehead P, Wright H, Abramson R, Williams S, Menon R, Martin E, Haines J, Gilbert J, Cuccaro M, Pericak-Vance M. Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Human Molecular Genetics 2012, 21: 3513-3523. PMID: 22543975, PMCID: PMC3392110, DOI: 10.1093/hmg/dds164.Peer-Reviewed Original ResearchConceptsCandidate genesGABA receptor-associated proteinNumber variationsNew candidate genesNovel candidate genesNovel susceptibility genesNeural development pathwaysReceptor-associated proteinCopy number variationsModel vertebrateASD heritabilityTranscription factorsLoci contributeMore genesNovel etiological mechanismsCNV regionsGenetic lociSNP arrayNotch ligandsAllosteric bindersGenesCase-control data setsSusceptibility genesNovel regionSize of deletions
2011
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
Chung R, Ma D, Wang K, Hedges D, Jaworski J, Gilbert J, Cuccaro M, Wright H, Abramson R, Konidari I, Whitehead P, Schellenberg G, Hakonarson H, Haines J, Pericak-Vance M, Martin E. An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. Molecular Autism 2011, 2: 18. PMID: 22050706, PMCID: PMC3305893, DOI: 10.1186/2040-2392-2-18.Peer-Reviewed Original ResearchX chromosome-wide association studyX chromosomeGenome-wide association study dataCase-control data setsAutism spectrum disorder (ASD) candidate geneChromosome-wide significanceGWAS data setsAssociation study dataReplication analysisDiscovery data setFamily data setsStrong genetic componentSame geneCandidate genesTransducin βAssociation studiesGenesXp22.3 regionLinkage disequilibriumGenetic componentSusceptibility genesAutism familiesSkewed prevalenceSNPsReplication threshold
2006
Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14
Ma D, Cuccaro M, Jaworski J, Haynes C, Stephan D, Parod J, Abramson R, Wright H, Gilbert J, Haines J, Pericak-Vance M. Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14. Molecular Psychiatry 2006, 12: 376-384. PMID: 17179998, DOI: 10.1038/sj.mp.4001927.Peer-Reviewed Original ResearchConceptsSib-pair familiesLinkage evidenceLocus heterogeneityHigh-density single nucleotide polymorphismTwo-point analysisGenome-wide linkage analysisChromosome 12qNovel linkage peakAffymetrix GeneChip Human Mapping 10K arrayMapping 10K ArraySignificant linkage resultsSignificant linkage evidenceSuggestive linkage evidenceSignificant genetic componentSingle nucleotide polymorphismsSubstantial locus heterogeneityLinkage peakCandidate genesChromosome 12Genome screenK arrayAutism genesLinkage analysisAffected individualsCM region