2011
Genetic analysis of biological pathway data through genomic randomization
Yaspan B, Bush W, Torstenson E, Ma D, Pericak-Vance M, Ritchie M, Sutcliffe J, Haines J. Genetic analysis of biological pathway data through genomic randomization. Human Genetics 2011, 129: 563-571. PMID: 21279722, PMCID: PMC3107984, DOI: 10.1007/s00439-011-0956-2.Peer-Reviewed Original ResearchMeSH KeywordsAutistic DisorderGenome-Wide Association StudyHumansLinkage DisequilibriumMetabolic Networks and PathwaysPolymorphism, Single NucleotideRandom AllocationConceptsGenome-wide association studiesGWAS datasetsWide association studyRandomization Incorporating StructurePotential epistatic effectsGWAS resultsGene sizeSNP coverageKEGG databaseBiological pathway dataSingle locusEpistatic effectsGenetic analysisPathway analysisAssociation studiesSNP allelesAssociation resultsAssociation analysis methodLinkage disequilibriumSignificant enrichmentPathway dataPathway sizeVariants of interestMultiple testing correctionSmall main effect
2010
Association and gene–gene interaction of SLC6A4 and ITGB3 in autism
Ma D, Rabionet R, Konidari I, Jaworski J, Cukier H, Wright H, Abramson R, Gilbert J, Cuccaro M, Pericak‐Vance M, Martin E. Association and gene–gene interaction of SLC6A4 and ITGB3 in autism. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2010, 153B: 477-483. PMID: 19588468, PMCID: PMC3735126, DOI: 10.1002/ajmg.b.31003.Peer-Reviewed Original Research
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