2011
Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk
Salyakina D, Cukier H, Lee J, Sacharow S, Nations L, Ma D, Jaworski J, Konidari I, Whitehead P, Wright H, Abramson R, Williams S, Menon R, Haines J, Gilbert J, Cuccaro M, Pericak-Vance M. Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk. PLOS ONE 2011, 6: e26049. PMID: 22016809, PMCID: PMC3189231, DOI: 10.1371/journal.pone.0026049.Peer-Reviewed Original ResearchA 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
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
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