DIXDC1 contributes to neurodevelopmental and psychiatric phenotypes via altered Wnt signaling Benjamin Cheyette finds higher rates of DIXDCI disruptions in individuals with ASD, schizophrenia or bipolar, and DIXDC1 signaling rescue improves mouse ASD-like behaviors.
Pathogenic mutations in mitochondrial DNA enriched in autism Using sequencing data from the Simons Simplex Collection, Zhenglong Gu found an enrichment of predicted pathogenic mutations in mitochondrial DNA in autism.
Microglia-like cells derived from human pluripotent stem cells Rudolf Jaenisch has developed a method enabling the generation of microglia-like cells from human embryonic stem cells and induced pluripotent stem cells.
Dissecting the neurobehavioral phenotypes caused by loss of RAI1 from specific cell types Liqun Luo uses conditional, cell-type-specific RAI1 deletions in mice to assess how loss of RAI1 contributes to neurodevelopmental phenotypes in Smith-Magenis syndrome.
Increased risk for autism is associated with mutations in genomic loci that have undergone accelerated evolution in humans By assessing human accelerated regions (HARs) in healthy individuals and those with ASD, Chris Walsh shows HARs regulate human social and cognitive behavior and ASD risk.
Deep brain stimulation rescues neural circuit dysfunction in Rett syndrome mouse model Huda Zoghbi and Stelios Smirnakis investigate how opposing molecular deficits in MeCP2 duplication and Rett syndromes lead to similar behavioral phenotypes.
A computational approach to predicting autism risk genes Simons Center for Data Analysis scientist Olga Troyanskaya has developed a machine-learning tool that uses neural interaction networks to predict autism risk genes.
Human-specific BOLA2 duplication at chromosomal region 16p11.2 and the susceptibility of this locus to recurrent rearrangements Evan Eichler reconstructs the evolution of chromosome 16p11.2 and finds most disease-causing rearrangements map within a H. sapiens-specific duplication containing BOLA2.