Research Highlights

Highlights of SFARI-funded papers, selected by the SFARI science team.

Large-scale SSC whole-genome sequencing data key to identifying statistically significant de novo noncoding variation in autism Stephan Sanders and colleagues used a machine learning approach to analyze whole-genome sequencing data from more than 1,900 SSC families and found that de novo noncoding variants in distal regions of promoters confer risk of ASD.

Alterations in neuronal excitability are compensatory changes, not causal effects, in autism Dan Feldman and colleagues analyzed four mouse models of autism and found that alterations in the excitation-inhibition ratio may serve as a homeostatic mechanism to prevent network hyperexcitability.

Alternations in network communication, not synaptic dysfunction, linked to behavioral alterations in fragile X syndrome Assessing network and synaptic communication in the hippocampus of behaving Fmr-1 null mice, André Fenton and colleagues showed altered network communication linked to behavioral alterations in fragile X syndrome.

Shared alterations in gene expression networks mirror genetic risk across neuropsychiatric disorders In comparing gene expression profiles and SNP risk across psychiatric disorders, Michael Gandal, Daniel Geschwind and colleagues found that shared genetic risk manifests in alterations in gene networks.

Alterations in cellular pH gradients cause defects in neuronal communication and autism-related behaviors in mice lacking NHE9 Using a mouse lacking brain-localized NHE9, Edwards shows that pH gradients affect neuronal communication and autism-like behaviors.

Male, but not female, 16p11.2 deletion mice show deficits in reward learning By assessing the 16p11.2 deletion autism mouse model, Ted Abel and colleagues uncover male-specific vulnerabilities in striatal signaling and reward function.

Two studies highlight the utility of carrier-derived iPSC-derived neurons for the study of neurodevelopmental disorders Lauren Weiss and Erik Ullian report on two studies using carrier-derived iPSC neurons to elucidate cellular phenotypes associated with 16p11.2 CNVs and a BRAF RASopathy mutation.

Genomic patterns of de novo mutation in simplex autism Evan Eichler and Robert Darnell provide deep whole genome sequencing of 516 families with idiopathic autism, providing insights into the complex etiology of simplex autism.

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