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
2010
Association and gene–gene interaction of SLC6A4 and ITGB3 in autism
Ma D, Rabionet R, Konidari I, Jaworski J, Cukier H, Wright H, Abramson R, Gilbert J, Cuccaro M, Pericak‐Vance M, Martin E. Association and gene–gene interaction of SLC6A4 and ITGB3 in autism. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2010, 153B: 477-483. PMID: 19588468, PMCID: PMC3735126, DOI: 10.1002/ajmg.b.31003.Peer-Reviewed Original Research