One of our goals for the redesign and relaunch of SFARI Gene is to keep users better informed about published papers that use the database to advance autism research in creative ways. Here are a few examples of how the database has been used and cited during the first half of 2018.
- M. Albert Basson and colleagues reported in Cerebral Cortex that Chd8 heterozygous mice show altered brain growth and functional over-connectivity. Consistent with previous reports they show that differentially expressed genes on a Chd8 mutant background overlap significantly with genes in the SFARI Gene database, including high-confidence and strong-candidate genes in categories 1 and 2
Read more here: Cereb Cortex 28, 2192-2206 (2018). - Lucia Peixoto and colleagues reported in Science Signaling that learning-regulated promoters in the mouse hippocampus flank genes that are disproportionately overlapping with the autism-implicated genes on the SFARI Gene list.
Read more here: Sci Signal 11, 513, eaan6500 (2018). - Writing in Translational Psychiatry, Deyou Zheng and colleagues report that genes on the SFARI Gene list are significantly enriched in expression in inhibitory neurons, using human postmortem gene expression data. Moreover, ASD risk genes are more likely to hubs of co-expression modules in inhibitory neurons.
Read more here: Transl Psychiatry 10, 8(1):13 (2018). - Haiyuan Yu and colleagues reported in Nature Genetics that de novo missense mutations from individuals with autism are more likely to disrupt protein-protein interactions than de novo missense mutations from unaffected siblings. Moreover, the interaction-disrupting mutations are more likely to be found in genes in the SFARI Gene database.
Read more here: Nat Genet 50, 1032-1040 (2018). - Writing in Science Advances, Weijun Luo and colleagues present an exhaustive computational re-analysis of autism exome sequencing datasets, implicating numerous genes and pathways in the disorder. Genes are mapped to SFARI Gene and other databases as part of their analyses.
Read more here: Sci Adv 4, 4, e1701799 (2018). - The list of high-confidence genes in SFARI Gene is features in a review by Rebecca Muhle and colleagues in JAMA Psychiatry: “The Emerging Clinical Neuroscience of Autism Spectrum Disorder”.
Read more here: JAMA Psychiatry 75, 514-523 (2018). - Akihide Takeuchi and colleagues reported in Cell Reports that the RNA-binding protein Sfpq regulates the transcriptional elongation of long genes, and that Sfpq-regulated genes are enriched for genes on the SFARI Gene list.
Read more here: Cell Rep 23, 1326-1341 (2018).
