Research Highlights

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

A pipeline for functional assessment of autism-associated missense mutations in C. elegans Paul Sternberg and colleagues establish an initial pipeline in C. elegans to screen autism-associated missense mutations for functional effects.

Distinct patterns of connectivity underlie differences in sensory responsiveness in autism Susan Bookheimer and colleagues show that the degree of sensory overresponsivity in individuals with autism may be driven by distinct patterns of connectivity between the prefrontal cortex and amygdala.

A mouse model of 22q11.2 deletion syndrome shows reduced long-range connectivity and dysfunctional mitochondria Anthony-Samuel LaMantia, Thomas Maynard and colleagues show that a mouse model of 22q11.2 deletion syndrome has fewer long-distance cortico-cortical connections, which is caused in part by mitochondrial dysfunction.

Two studies using SPARK’s research matching program attest to its effectiveness for rapid and large-scale testing of research questions Two studies from Brigitta Monz, Richard Houghton and colleagues provide examples of the effectiveness of SPARK’s research match program to rapidly recruit thousands of individuals for the large-scale testing of research questions.

Brief treatment with statin yields long-term benefit in rat model of fragile X syndrome Peter Kind and colleagues show that brief treatment with lovastatin results in sustained correction of physiological and behavioral deficits in a rat model of fragile X syndrome.

Single-nucleus RNA sequencing identifies brain cell types with significant changes in gene expression in autism Using single-nucleus RNA sequencing of postmortem cortical tissue from individuals with ASD, Arnold Kriegstein and colleagues identify upper-layer excitatory neurons and microglia as key cell types affected in ASD.

Substantial role for biallelic mutations in autism risk, particularly in females Timothy Yu and colleagues analyzed exome sequencing data to estimate that recessive mutations contribute to approximately 5 percent of all cases of autism, including 10 percent of females.

A genome-wide assessment of noncoding risk variants in autism Olga Troyanskaya, Robert Darnell and colleagues applied deep-learning methods to whole-genome sequencing data from SSC families and identified a clear enrichment for de novo noncoding variation in ASD.

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