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.
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
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.
Altered hormone signaling in the brainstem causes motor delays in 16p11.2 mice
Simon Chen and colleagues found that a reduction in locus-coeruleus noradrenaline neuromodulatory signaling contributes to altered motor learning in 16p11.2 deletion mice.
Perceptual impairments and altered excitatory-inhibitory activity in Cntnap2 knockout mice
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.
Fetal responses to maternal infection may help explain prevalence of autism in males
Jun Huh and colleagues found that maternal immune responses to infection may at least partially explain sex-specific differences in autism risk.
Probing the neural circuits of social interactions in monkeys
Michael Platt and colleagues found that monkeys create complex internal representations of social situations and uncovered neural circuitry supporting social cooperation.
Excessive dendritic spine clusters in MECP2 duplication syndrome mouse model
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.
Large cohorts aid in genotype-phenotype analyses
Evan Eichler and colleagues used targeted sequencing in large neurodevelopmental cohorts, including SPARK, to identify new risk genes and relate genotype to phenotypic presentation.
Sensory habituation is reduced in autism
Pawan Sinha and colleagues found that sensory habituation is reduced in autism, and furthermore, that this reduction correlates with behavioral assessments of social communication and sensory difficulties.
Impaired long-range communication and reduced anxiety-related behavior in Pogz deficient mice
Vikaas Sohal and John Rubenstein found that Pogz heterozygous mice exhibited reduced anxiety-related avoidance behavior and that this correlated with impaired communication between the ventral hippocampus and medial prefrontal cortex.
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