2009
A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1
Ma D, Salyakina D, Jaworski J, Konidari I, Whitehead P, Andersen A, Hoffman J, Slifer S, Hedges D, Cukier H, Griswold A, McCauley J, Beecham G, Wright H, Abramson R, Martin E, Hussman J, Gilbert J, Cuccaro M, Haines J, Pericak‐Vance M. A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1. Annals Of Human Genetics 2009, 73: 263-273. PMID: 19456320, PMCID: PMC2918410, DOI: 10.1111/j.1469-1809.2009.00523.x.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenetic architectureAssociation studiesGenome-wide association studiesComplex genetic architectureIllumina Human 1M beadchipUnderlying genetic architectureK Illumina BeadChipWide association studyNovel risk lociHeritable neuropsychiatric disorderChromosome 5p14.1Common variationRisk lociIllumina BeadChipNovel regionNucleotide polymorphismsAutism familiesBeadChipRare variationDiscovery datasetCaucasian familiesIndependent datasetsFamilyLoci
2007
Investigation of potential gene–gene interactions between apoe and reln contributing to autism risk
Ashley-Koch A, Jaworski J, Ma D, Mei H, Ritchie M, Skaar D, Delong G, Worley G, Abramson R, Wright H, Cuccaro M, Gilbert J, Martin E, Pericak-Vance M. Investigation of potential gene–gene interactions between apoe and reln contributing to autism risk. Psychiatric Genetics 2007, 17: 221-226. PMID: 17621165, DOI: 10.1097/ypg.0b013e32809c2f75.Peer-Reviewed Original ResearchApolipoproteins EAutistic DisorderCell Adhesion Molecules, NeuronalElectron Spin Resonance SpectroscopyExtracellular Matrix ProteinsFamilyFemaleGenetic Predisposition to DiseaseHumansMaleNerve Tissue ProteinsPolymorphism, GeneticPolymorphism, Single NucleotideReelin ProteinRisk AssessmentSerine EndopeptidasesUnited StatesWhite People
2006
Bone Density Interpretation and Relevance in Caucasian Children Aged 9–17 Years of Age: Insights From a Population-Based Fracture Study
Jones G, Ma D, Cameron F. Bone Density Interpretation and Relevance in Caucasian Children Aged 9–17 Years of Age: Insights From a Population-Based Fracture Study. Journal Of Clinical Densitometry 2006, 9: 202-209. PMID: 16785082, DOI: 10.1016/j.jocd.2006.02.004.Peer-Reviewed Original ResearchConceptsBone mineral apparent densityBone mineral densityBone mineral contentFracture riskBone densityBone areaPopulation-based case-control studyUpper limb fracture riskZ-scoreSpine bone mineral densityUpper limb fracturesSpine bone mineral apparent densityCase-control studySpecific z-scoresBone density measurementsYears of ageAge-specific z-scoresUncertain clinical significanceForearm fracturesLimb fracturesChildren Aged 9BMD sitesClinical endpointsMineral densityClinical significance
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