Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

Allen, 2013, De novo mutations in epileptic encephalopathies, Nature, 501, 217, 10.1038/nature12439 Basu, 2009, AutDB: a gene reference resource for autism research, Nucleic Acids Res., 37, D832, 10.1093/nar/gkn835 Betancur, 2011, Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting, Brain Res., 1380, 42, 10.1016/j.brainres.2010.11.078 Casanova, 2013, Focal cortical dysplasias in autism spectrum disorders, Acta Neuropathol. Commun., 1, 67, 10.1186/2051-5960-1-67 Chen, 2015, The emerging picture of autism spectrum disorder: genetics and pathology, Annu. Rev. Pathol., 10, 111, 10.1146/annurev-pathol-012414-040405 D’Gama, 2015, Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia, Ann. Neurol., 77, 720, 10.1002/ana.24357 De Rubeis, 2014, Synaptic, transcriptional and chromatin genes disrupted in autism, Nature, 515, 209, 10.1038/nature13772 Dean, 2001, Rapid amplification of plasmid and phage DNA using Phi 29 DNA polymerase and multiply-primed rolling circle amplification, Genome Res., 11, 1095, 10.1101/gr.180501 Depienne, 2010, Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome, J. Med. Genet., 47, 404, 10.1136/jmg.2009.074328 Evrony, 2012, Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain, Cell, 151, 483, 10.1016/j.cell.2012.09.035 Fujiwara, 2003, Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures, Brain, 126, 531, 10.1093/brain/awg053 Gaily, 2013, Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings, Epilepsia, 54, 1577, 10.1111/epi.12256 Hoischen, 2014, Prioritization of neurodevelopmental disease genes by discovery of new mutations, Nat. Neurosci., 17, 764, 10.1038/nn.3703 Huguet, 2013, The genetic landscapes of autism spectrum disorders, Annu. Rev. Genomics Hum. Genet., 14, 191, 10.1146/annurev-genom-091212-153431 Iossifov, 2014, The contribution of de novo coding mutations to autism spectrum disorder, Nature, 515, 216, 10.1038/nature13908 Irimia, 2014, A highly conserved program of neuronal microexons is misregulated in autistic brains, Cell, 159, 1511, 10.1016/j.cell.2014.11.035 Jamuar, 2014, Somatic mutations in cerebral cortical malformations, N. Engl. J. Med., 371, 733, 10.1056/NEJMoa1314432 Jeste, 2014, Disentangling the heterogeneity of autism spectrum disorder through genetic findings, Nat. Rev. Neurol., 10, 74, 10.1038/nrneurol.2013.278 Kang, 2011, Spatio-temporal transcriptome of the human brain, Nature, 478, 483, 10.1038/nature10523 Lee, 2012, De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly, Nat. Genet., 44, 941, 10.1038/ng.2329 Lokanga, 2013, Somatic expansion in mouse and human carriers of fragile X premutation alleles, Hum. Mutat., 34, 157, 10.1002/humu.22177 O’Roak, 2011, Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations, Nat. Genet., 43, 585, 10.1038/ng.835 O’Roak, 2012, Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders, Science, 338, 1619, 10.1126/science.1227764 Poduri, 2012, Somatic activation of AKT3 causes hemispheric developmental brain malformations, Neuron, 74, 41, 10.1016/j.neuron.2012.03.010 Poduri, 2013, Somatic mutation, genomic variation, and neurological disease, Science, 341, 1237758, 10.1126/science.1237758 Redin, 2014, Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing, J. Med. Genet., 51, 724, 10.1136/jmedgenet-2014-102554 Rivière, 2012, De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes, Nat. Genet., 44, 934, 10.1038/ng.2331 Sanders, 2012, De novo mutations revealed by whole-exome sequencing are strongly associated with autism, Nature, 485, 237, 10.1038/nature10945 Stoner, 2014, Patches of disorganization in the neocortex of children with autism, N. Engl. J. Med., 370, 1209, 10.1056/NEJMoa1307491 Tan, 2011, A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands, Am. J. Hum. Genet., 88, 42, 10.1016/j.ajhg.2010.11.013 Wingate, 2014, Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 Sites, United States, 2010, MMWR Surveill. Summ., 28, 1 Wintle, 2011, A genotype resource for postmortem brain samples from the Autism Tissue Program, Autism Res., 4, 89, 10.1002/aur.173