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.
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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.
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.
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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