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
2008
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate
Chiquet B, Blanton S, Burt A, Ma D, Stal S, Mulliken J, Hecht J. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Human Molecular Genetics 2008, 17: 2212-2218. PMID: 18413325, PMCID: PMC2852032, DOI: 10.1093/hmg/ddn121.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsWnt genesNon-syndromic cleft lipWnt gene functionUpper lip fusionParent-child triosGene functionNSCLP familiesWnt familyCommon birth defectsGene-gene interactionsLip fusionWnt9b geneMultiple haplotypesGenesWnt-5aNucleotide polymorphismsGenetic contributionWnt3aWnt11NSCLPFacial processesWnt3Environmental factorsBirth defects
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