2012
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways
Griswold A, Ma D, Cukier H, Nations L, Schmidt M, Chung R, Jaworski J, Salyakina D, Konidari I, Whitehead P, Wright H, Abramson R, Williams S, Menon R, Martin E, Haines J, Gilbert J, Cuccaro M, Pericak-Vance M. Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Human Molecular Genetics 2012, 21: 3513-3523. PMID: 22543975, PMCID: PMC3392110, DOI: 10.1093/hmg/dds164.Peer-Reviewed Original ResearchConceptsCandidate genesGABA receptor-associated proteinNumber variationsNew candidate genesNovel candidate genesNovel susceptibility genesNeural development pathwaysReceptor-associated proteinCopy number variationsModel vertebrateASD heritabilityTranscription factorsLoci contributeMore genesNovel etiological mechanismsCNV regionsGenetic lociSNP arrayNotch ligandsAllosteric bindersGenesCase-control data setsSusceptibility genesNovel regionSize of deletions
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