The contribution of de novo coding mutations to autism spectrum disorder
Iossifov I, O’Roak B, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. The contribution of de novo coding mutations to autism spectrum disorder. Nature 2014, 515: 216-221. PMID: 25363768, PMCID: PMC4313871, DOI: 10.1038/nature13908.Peer-Reviewed Original ResearchMeSH KeywordsChildChild Development Disorders, PervasiveCluster AnalysisExomeFemaleGenesGenetic Predisposition to DiseaseHumansIntelligence TestsMaleMutationOpen Reading FramesReproducibility of ResultsConceptsLGD mutationsMissense mutationsWild-type alleleChromatin modifiersGene-disrupting mutationsGenetic architectureCopy number variantsDe novo mutationsDe novo missense mutationsWhole-exome sequencingHuman diseasesGenesNovo missense mutationNumber variantsLikely gene-disrupting mutationsMutationsDe novoNovo mutationsExome sequencingSimplex familiesTargetFMRPPowerful toolSimilar numberSequencingDe Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF, Teran NA, Dea J, Mandell JD, Bal V, Sullivan CA, DiLullo NM, Khalil RO, Gockley J, Yuksel Z, Sertel SM, Ercan-Sencicek AG, Gupta AR, Mane SM, Sheldon M, Brooks AI, Roeder K, Devlin B, State MW, Wei L, Sanders SJ. De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder. Cell Reports 2014, 9: 16-23. PMID: 25284784, PMCID: PMC4194132, DOI: 10.1016/j.celrep.2014.08.068.Peer-Reviewed Original Research