2013
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
2012
Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients
Zhao L, Triche EW, Walsh KM, Bracken MB, Saftlas AF, Hoh J, Dewan AT. Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients. BMC Pregnancy And Childbirth 2012, 12: 61. PMID: 22748001, PMCID: PMC3476390, DOI: 10.1186/1471-2393-12-61.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCopy number variantsSingle nucleotide polymorphismsSNP candidatesCopy number deletionAssociation studiesGenome-wide scanLimited DNA quantitiesQuantitative real-time PCRAffymetrix SNP 6.0 microarraysGenomic regionsOnly deletionPSG11 geneReal-time PCRDeleterious natureMaternal single nucleotide polymorphismsNucleotide polymorphismsGenetic contributionDeletionDNA quantityCase-control datasetSignificance thresholdCNV callsPSG11Genes