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
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