Highlights of SFARI-funded papers, selected by the SFARI science team.
Ian Lipkin, Mady Hornig and colleagues showed that levels of immune molecules in mothers during pregnancy and in cord blood at birth are highly predictive of later autism diagnoses.
Laura Andreae, M. Albert Basson and collaborators showed that Chd8 haploinsufficiency in mice was linked to changes in excitation/inhibition balance and disrupted homeostatic plasticity of prefrontal circuits.
SFARI Investigator Susanne Schmid and colleagues showed that loss of Cntnap2 in rats leads to immature-like delays in auditory cortex sound processing and overactive auditory neurons.
Ivan Iossifov, Michael Wigler and colleagues provided a detailed comparison of simplex and multiplex families with autism, supporting the view that de novo mutations are a more frequent cause of autism in low- than in high-risk families.
Anna Penn and colleagues showed that loss of the supply of the hormone allopregnanolone (ALLO) from the placenta leads to cerebellar brain and behavioral deficits in male offspring.
SFARI Investigators Lilia Iakoucheva and Alysson Muotri and colleagues utilized 3D organoid brain cultures to demonstrate how defects in neuron migration are affected in 16p11.2 deletion and duplication conditions.
SFARI Investigator Bruce Herring and colleagues showed that ASD-linked mutations in Trio and NLGN1 cause deficits in synapse development and function.
Hisashi Umemori and colleagues showed that X-inactivation-based patchy expression of PCDH19 causes defects in presynaptic development and signaling in the mouse hippocampus, affecting memory processes.