Research: Funded Projects

Social motivation has been conceptualized as a fundamental drive in humans.

Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder, but the underlying molecular pathogenesis has remained poorly understood.

Sensory experience refines cortical circuits through activity-dependent stabilization and elimination of excitatory synaptic connections.

This project aims to develop a new rat model corresponding to the deletion of the 16p11.2 BP4-BP5 homologous region in the Long-Evans (LE) strain.

Although autism is a neurodevelopmental disorder, few animal studies of autism have adopted a neurodevelopmental perspective.

Many genetic risk variants for autism spectrum disorders (ASD) have been identified, but how these variants alter gene regulation to affect brain development and function remains to be …

An impediment along the path toward translational research in autism has been the lack of strong, objective phenotypic measures of autistic behavior.

The last decade has seen remarkable progress in gene discovery for autism spectrum disorder (ASD).

Multiple lines of evidence point to abnormal activation of astrocytes and microglia in individuals with autism spectrum disorders (ASDs).

A major challenge to understanding the causes of autism spectrum disorder (ASD) is the high and ever-growing number of genes linked to the disorder.

Social recognition is essential for individuals to survive, reproduce and raise their young.

The last decade has seen remarkable progress in gene discovery for autism spectrum disorder (ASD).

Preterm birth occurs in approximately 10 percent of all births worldwide and is a major perinatal risk factor for autism spectrum disorder (ASD).

Autism spectrum disorder (ASD) is thought to derive from dysfunction of complex neuronal circuits and has a strong genetic component.

Sensorimotor deficits are believed to contribute to many of the symptoms of autism spectrum disorder (ASD), including social impairments.

Fragile X syndrome (FXS) is the leading monogenic cause of both autism and intellectual disability and results from the silencing of the FMR1 gene, which codes for the …

Mutations in SYNGAP1 have been identified in individuals diagnosed with autism spectrum disorder (ASD) or forms of intellectual disability.

The genetic characterization of neurodevelopmental disorders in sub-Saharan Africa project (NeuroDev) seeks to expand our knowledge of the genetic architecture of etiologically related neurodevelopmental disorders — particularly autism …

A growing number of autism spectrum disorder (ASD) risk genes are found to play a role in synaptic plasticity.

Although there is robust evidence for the role of mitochondrial dysfunction in some individuals with autism spectrum disorder (ASD), the genetic loci responsible and whether these are encoded …

Glia comprise about half the cells of our nervous system and interact closely with neurons to regulate their shape and functions.

Tomasz Nowakowski and his colleagues recently proposed an updated model of human cortical development through the identification of discrete cell types and analyses of temporally and spatially restricted …

The number of children identified with autism spectrum disorders (ASD) has increased substantially over the last few decades; today an estimated one in 68 children in the United …

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by core symptoms of challenges in social interactions and repetitive and restricted behaviors and interests, in addition to …

The etiology of autism spectrum disorders (ASDs) is complex, involving both genetic and environmental contributions to individual and population-level liability.

Autism spectrum disorders (ASD) are heterogeneous in clinical presentation and in their genetic and pathophysiological etiology.

Exome sequencing studies for autism spectrum disorder (ASD) have identified variants in SCN2A as being among the most common risk factors for ASD.

Ray Turner’s laboratory focuses on the mechanisms underlying long-term potentiation (LTP) at the mossy fiber-granule cell synapse and strategies to restore circuit and behavioral functions …

An imbalance in neural excitation/inhibition (E/I) has been hypothesized to underlie at least some forms of autism1.

The 16p11.2 deletion and duplication syndromes are frequent copy number variants (CNVs) in humans associated with developmental delay and autism spectrum disorder (ASD).

KCC2, a potassium-chloride co-transporter, is the major chloride exporter in neurons and is responsible for maintaining the low neuronal resting chloride concentration.

Autism spectrum disorders (ASDs) are synaptopathies, caused by misconnected neural networks during brain development.

Social attachment plays a central role in most, if not all, levels of human interaction and is critically affected in conditions such as autism spectrum disorders (ASD), which …

Although sleep is essential for optimal brain function, the mechanisms by which sleep supports cognitive functions are not fully understood.

Electrodermal activity (EDA) data contains rich and valuable information about changes in the sympathetic nervous system on a second-by-second timescale, providing insight into affective changes that …

Oxytocin is being proposed as a treatment for autism and anxiety, but its use has limited potential until mechanisms of oxytocin action in the brain are better understood.

It is estimated that at least 30 percent of simplex autism spectrum disorder (ASD) arises from de novo disruptive, missense or copy number variation, thus supporting the hypothesis …

Functional magnetic resonance imaging (fMRI) has enabled insight into the human brain that was not possible 30 years ago.

Many genes implicated in autism encode proteins at synapses, the connections between neurons.

Advances in genetics have defined a large number of high-confidence risk genes that are mutated in autism spectrum disorder (ASD).

Mutations identified by exome sequencing demonstrate that disruption of the gene SCN2A, which encodes the neuronal sodium channel NaV1.2, is strongly associated with autism spectrum disorder (ASD).

SHANK2, a protein that is located underneath synapses in excitatory neurons, is a high-confidence risk gene for autism spectrum disorder (ASD).

Previously, Benjamin Blencowe and colleagues demonstrated that highly conserved, 3-27 nucleotide-long, neuronal microexons have reduced levels of splicing in the brains of more than one-third …

Autism spectrum disorders (ASDs) are a range of neurodevelopmental disorders characterized by impaired social interaction and communication, and restricted and repetitive behavior.

Many individuals diagnosed with autism spectrum disorder (ASD) and related neurodevelopmental disorders, like fragile X syndrome (FXS), show alterations in sensory processing.

The majority of autism spectrum disorder (ASD) research has focused on brain-specific mechanisms and circuits, with relatively little attention to the contributions of the peripheral nervous system …

Shank and CaMKII are two extremely abundant proteins in the postsynaptic densities of excitatory synapses.