Highlights of SFARI-funded papers, selected by the SFARI science team.
Simon Chen and colleagues found that a reduction in locus-coeruleus noradrenaline neuromodulatory signaling contributes to altered motor learning in 16p11.2 deletion mice.
Lilia Iakoucheva and colleagues found that mice lacking a copy of the high-confidence ASD risk gene Cul3 have reduced brain volumes, potentially due to defects in Rho signaling during brain development.
Melissa Gymrek and colleagues developed a framework for the identification and prioritization of de novo mutations at tandem repeats on a genome-wide scale and assessed their contribution to autism risk.
Bilal Haider and colleagues found that Cntnap2 knockout mice exhibited deficits in visual perception and that these were associated with diminished excitation and elevated inhibition in the visual cortex.
Jun Huh and colleagues found that maternal immune responses to infection may at least partially explain sex-specific differences in autism risk.
Michael Platt and colleagues found that monkeys create complex internal representations of social situations and uncovered neural circuitry supporting social cooperation.
Stelios Smirnakis and Huda Zoghbi observed an increase in the formation and stabilization of dendritic spine clusters in the cortex of MECP2 duplication syndrome mice.
Evan Eichler and colleagues used targeted sequencing in large neurodevelopmental cohorts, including SPARK, to identify new risk genes and relate genotype to phenotypic presentation.