Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism
Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M, Consortium S, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH, Devlin B, Morrow EM. Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism. American Journal Of Human Genetics 2013, 93: 103-109. PMID: 23830515, PMCID: PMC3710760, DOI: 10.1016/j.ajhg.2013.06.004.Peer-Reviewed Original ResearchConceptsGenome-wide analysisRare deleterious variantsDistinct genetic architecturesAutism candidate genesExome sequence dataGenetic architectureSingle geneROH burdenCandidate genesDeleterious variantsAutosomal recessive mutationSimplex autismGenesProportion of femalesIntellectual disabilityHomozygosityFamilyLociUnaffected siblingsMutationsAutism spectrum disorderFemalesProbandsVariants