2014
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders
Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, De Camilli P, Zhao H, Šestan N, State MW. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism 2014, 5: 31. PMID: 24860643, PMCID: PMC4032628, DOI: 10.1186/2040-2392-5-31.Peer-Reviewed Original ResearchExperiment-wide significance thresholdDeleterious mutationsModules of genesNovel candidate genesRare deleterious mutationsCase/control association studySignificance thresholdASD-related genesProtein complexesDe novo mutationsCandidate genesVariety of functionsExpression patternsWhole-exome dataProtein structureAssociation studiesSequencing studiesNonsynonymous mutationsDeep resequencingControl association studySplice site variantConservation measuresSite variantsGenesHuman fetal brain development
2013
Genetic Susceptibility in Tourette Syndrome
Fernandez T, State M. Genetic Susceptibility in Tourette Syndrome. 2013, 137-155. DOI: 10.1093/med/9780199796267.003.0007.ChaptersRare copy number variantsCopy number variantsAssociation studiesGenome-wide association studiesGenome-wide detectionNumber variantsCommon complex traitsCandidate gene association studiesHuman genetic studiesComplex genetic contributionsRare variant studiesEtiology of TSCausative genetic lociGene association studiesComplex traitsNonparametric linkage analysisGene mappingDeleterious mutationsEarlier segregation analysisGenetic lociHDC genePathway analysisTS familyGenetic studiesLinkage analysis