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
2006
Investigation of autism and GABA receptor subunit genes in multiple ethnic groups
Collins A, Ma D, Whitehead P, Martin E, Wright H, Abramson R, Hussman J, Haines J, Cuccaro M, Gilbert J, Pericak-Vance M. Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Neurogenetics 2006, 7: 167-174. PMID: 16770606, PMCID: PMC1513515, DOI: 10.1007/s10048-006-0045-1.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsReceptor subunit genesGABA receptor subunit genesLevels of GABAAutism patientsMultiple ethnic groupsSeizure activityGABAergic systemSynaptic inhibitionPositive historyGABA receptorsAdult brainEthnic groupsSignificant associationAutistic patientsPatientsNeurodevelopmental disordersCaucasian datasetSignificant allelic associationAutism riskSubset of familiesAfrican AmericansGABRA4AssociationSubunit gene