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
2005
Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism
Ma D, Whitehead P, Menold M, Martin E, Ashley-Koch A, Mei H, Ritchie M, DeLong G, Abramson R, Wright H, Cuccaro M, Hussman J, Gilbert J, Pericak-Vance M. Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism. American Journal Of Human Genetics 2005, 77: 377-388. PMID: 16080114, PMCID: PMC1226204, DOI: 10.1086/433195.Peer-Reviewed Original ResearchConceptsGABA receptor subunit genesReceptor subunit genesSingle nucleotide polymorphismsGene-gene interactionsSubunit geneFamily-based association testAssociation analysisComplex gene-gene interactionsGenotype-pedigree disequilibrium testGenotypic associationDisequilibrium testSignificant genetic componentChromosome 4p12Pedigree disequilibrium testMultiple genesEpigenetic effectsSignificant genotypic associationTwo-locus modelSignificant allelic associationAllelic association analysisGenesGenetic componentLinkage testsMarker setGABRB1