2012
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci
Hedges D, Hamilton-Nelson K, Sacharow S, Nations L, Beecham G, Kozhekbaeva Z, Butler B, Cukier H, Whitehead P, Ma D, Jaworski J, Nathanson L, Lee J, Hauser S, Oksenberg J, Cuccaro M, Haines J, Gilbert J, Pericak-Vance M. Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Molecular Autism 2012, 3: 2. PMID: 22472195, PMCID: PMC3352055, DOI: 10.1186/2040-2392-3-2.Peer-Reviewed Original ResearchGamma-aminobutyric acidGABA receptorsControl individualsGABA receptor expressionMajor inhibitory neurotransmitterCommon insertion/deletion polymorphismInsertion/deletion polymorphismQuantitative PCRGABAergic systemInhibitory neurotransmitterReceptor expressionUnaffected family membersBehavioral impairmentsEtiology of autismAutistic patientsComparative genomic hybridization arrayBackgroundAutism spectrum disorderConclusionsThese results
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