Using an input set of autism-associated genes from SFARI Gene, Qianhui Yu & Zhisong He analyzed RNAseq data from autism and control brain samples, and determined the relative contribution of cell-type-composition-dependent and -independent gene expression changes to the autism-associated transcriptome.
Reporting in Cell, David Allis, Robert Darnell, and their colleagues showed that a Brd4 inhibitor could alleviate many phenotypes observed in a mouse model of fragile X syndrome, and also alters a substantial number of autism-associated genes listed in the SFARI Gene database.
Three studies from Genevieve Konopka and colleagues used SFARI Gene data. The first, published in Cerebral Cortex, reveals that a gene set associated with memory encoding is enriched for genes in the SFARI Gene database. The second, published in the Journal of Neuroscience, reports that a gene set differentially expressed in the cortex and hippocampus of a Foxp1 conditional knockout mouse is enriched for SFARI genes. Finally, as reported in Genes & Development, they again show an enrichment for SFARI genes among those differentially expressed in the early postnatal neocortex of Foxp1-deficient mice.
Two studies from Evan Eichler and colleagues used SFARI Gene data. The first, reported in Cell, identified an enrichment for SFARI genes among those hit by de novo mutation in whole-genome sequence data from the Simons Simplex Collection. The second, reviewing the recent literature on autism genetics in Genome Medicine, listed the top 26 genes hit by de novo loss-of-function mutation in neurodevelopmental disorders writ large, and indicated the SFARI Gene score for each.
Writing in Stem Cell Reports, and consistent with findings from the Konopka lab outlined above, Paul Coffer and colleagues show that Foxp1 binds near genes involved in diseases of the central nervous system, and specifically regulates a subset of autism genes in SFARI Gene.