Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era
Jiang YH, Wang Y, Xiu X, Choy KW, Pursley AN, Cheung SW. Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era. Critical Reviews In Clinical Laboratory Sciences 2014, 51: 249-262. PMID: 24878448, PMCID: PMC5937018, DOI: 10.3109/10408363.2014.910747.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsCopy number variantsGenetics of ASDPenetrant copy number variantsNumber variantsGenome-wide copy number variantsGenetic etiologySyndromic autism spectrum disordersGenomic eraSingle-gene testsSequence analysisWhole-exome sequencingGenetic evaluationNucleotide variantsPleiotropic effectsGenetic variantsClinical genetic evaluationMultiple gene panelsExome sequencingGenetic causeIncomplete penetranceNumber analysisMolecular diagnostic assaysVariable expressivityGene mutations