2009
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009, 459: 528-533. PMID: 19404256, PMCID: PMC2943511, DOI: 10.1038/nature07999.Peer-Reviewed Original ResearchMeSH KeywordsAutistic DisorderBrainCadherinsCase-Control StudiesCell AdhesionCell Adhesion Molecules, NeuronalChromosomes, Human, Pair 5Cohort StudiesGenetic MarkersGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHumansPolymorphism, Single NucleotideReproducibility of ResultsConceptsGenome-wide significant associationGenome-wide association studiesStrongest association signalCommon genetic variantsNeuronal cell adhesion moleculeSingle nucleotide polymorphismsAssociation signalsCell adhesion moleculeAssociation studiesCadherin-10Common genetic risk factorPathogenesis of ASDGenetic variantsNucleotide polymorphismsCadherin-9Common variantsEuropean ancestryGenetic risk factorsFirst demonstrationGenesRs4307059VariantsIndependent cohortNeuropsychiatric disordersAncestry
2007
Investigation of potential gene–gene interactions between apoe and reln contributing to autism risk
Ashley-Koch A, Jaworski J, Qiong 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