@article {134,
	title = {The Genetic Control of Stoichiometry Underlying Autism.},
	journal = {Annu Rev Neurosci},
	volume = {43},
	year = {2020},
	month = {2020 07 08},
	pages = {509-533},
	abstract = {<p>Autism is a common and complex neurologic disorder whose scientific underpinnings have begun to be established in the past decade. The essence of this breakthrough has been a focus on families, where genetic analyses are strongest, versus large-scale, case-control studies. Autism genetics has progressed in parallel with technology, from analyses of copy number variation to whole-exome sequencing (WES) and whole-genome sequencing (WGS). Gene mutations causing complete loss of function account for perhaps one-third of cases, largely detected through WES. This limitation has increased interest in understanding the regulatory variants of genes that contribute in more subtle ways to the disorder. Strategies combining biochemical analysis of gene regulation, WGS analysis of the noncoding genome, and machine learning have begun to succeed. The emerging picture is that careful control of the amounts of transcription, mRNA, and proteins made by key brain genes-stoichiometry-plays a critical role in defining the clinical features of autism.</p>},
	issn = {1545-4126},
	doi = {10.1146/annurev-neuro-100119-024851},
	author = {Darnell, Robert B}
}
@article {23,
	title = {Genomic Patterns of De Novo Mutation in Simplex Autism.},
	journal = {Cell},
	volume = {171},
	year = {2017},
	month = {2017 Oct 19},
	pages = {710-722.e12},
	abstract = {<p>To further our understanding of the genetic etiology of autism, we generated and analyzed genome sequence data from 516 idiopathic autism families (2,064 individuals). This resource includes >59 million single-nucleotide variants (SNVs) and 9,212 private copy number variants (CNVs), of which 133,992 and 88 are de novo mutations (DNMs), respectively. We estimate a mutation rate of \~{}1.5~{\texttimes} 10 SNVs per site per generation with a significantly higher mutation rate in repetitive DNA. Comparing probands and unaffected siblings, we observe several DNM trends. Probands carry more gene-disruptive CNVs and SNVs, resulting in severe~missense mutations and mapping to predicted fetal brain promoters and embryonic stem cell enhancers. These differences become more pronounced for autism genes (p~= 1.8~{\texttimes} 10, OR~= 2.2). Patients are more likely to carry multiple coding and noncoding DNMs in different genes, which are enriched for expression in striatal neurons (p~= 3~{\texttimes} 10), suggesting a path forward for genetically characterizing more complex cases of autism.</p>},
	keywords = {Animals, Autistic Disorder, DNA Copy Number Variations, DNA Mutational Analysis, Female, Genome-Wide Association Study, Humans, INDEL Mutation, Male, Mice, Polymorphism, Single Nucleotide},
	issn = {1097-4172},
	doi = {10.1016/j.cell.2017.08.047},
	author = {Turner, Tychele N and Coe, Bradley P and Dickel, Diane E and Hoekzema, Kendra and Nelson, Bradley J and Zody, Michael C and Kronenberg, Zev N and Hormozdiari, Fereydoun and Raja, Archana and Pennacchio, Len A and Darnell, Robert B and Eichler, Evan E}
}
