2011
A de novo 1.5 Mb microdeletion on chromosome 14q23.2‐23.3 in a patient with autism and spherocytosis
Griswold A, Ma D, Sacharow S, Robinson J, Jaworski J, Wright H, Abramson R, Lybæk H, Øyen N, Cuccaro M, Gilbert J, Pericak‐Vance M. A de novo 1.5 Mb microdeletion on chromosome 14q23.2‐23.3 in a patient with autism and spherocytosis. Autism Research 2011, 4: 221-227. PMID: 21360829, PMCID: PMC3110642, DOI: 10.1002/aur.186.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAllelesAutistic DisorderChromosome DeletionChromosomes, Human, Pair 14ComorbidityDNA Copy Number VariationsGene FrequencyGenetic Association StudiesGenotypeHumansIntellectual DisabilityLearning DisabilitiesMaleMethylenetetrahydrofolate Dehydrogenase (NADP)Minor Histocompatibility AntigensPedigreePhenotypePolymorphism, Single NucleotideSpherocytosis, HereditaryConceptsCopy number variations
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
2006
Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14
Ma D, Cuccaro M, Jaworski J, Haynes C, Stephan D, Parod J, Abramson R, Wright H, Gilbert J, Haines J, Pericak-Vance M. Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14. Molecular Psychiatry 2006, 12: 376-384. PMID: 17179998, DOI: 10.1038/sj.mp.4001927.Peer-Reviewed Original ResearchConceptsSib-pair familiesLinkage evidenceLocus heterogeneityHigh-density single nucleotide polymorphismTwo-point analysisGenome-wide linkage analysisChromosome 12qNovel linkage peakAffymetrix GeneChip Human Mapping 10K arrayMapping 10K ArraySignificant linkage resultsSignificant linkage evidenceSuggestive linkage evidenceSignificant genetic componentSingle nucleotide polymorphismsSubstantial locus heterogeneityLinkage peakCandidate genesChromosome 12Genome screenK arrayAutism genesLinkage analysisAffected individualsCM region
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 setGABRB1Ordered‐subset analysis of savant skills in autism for 15q11‐q13
Ma D, Jaworski J, Menold M, Donnelly S, Abramson R, Wright H, Delong G, Gilbert J, Pericak‐Vance M, Cuccaro M. Ordered‐subset analysis of savant skills in autism for 15q11‐q13. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2005, 135B: 38-41. PMID: 15756693, DOI: 10.1002/ajmg.b.30166.Peer-Reviewed Original Research