Research: Funded Projects

Functional genomic analyses of the developing human brain have revealed highly dynamic spatiotemporal patterns of gene expression and epigenetic changes during prenatal and early postnatal development and across …

Motor development is a central feature in the first two years of life.

Karen Parker’s team has used the extremes of naturally occurring variation in the social behavior of rhesus monkeys to develop a novel model of social deficits with …

Precise synaptic connectivity and plasticity are critical for human cognition.

Autism spectrum disorder (ASD) can arise from a multitude of genetic and environmental factors and span a wide range of features, including difficulties in social interactions, restricted interests …

Mutations in neurexins have been identified in genetic studies and animal models as risk factors for autism spectrum disorders (ASDs).

Brain oscillations are critical for neural computation and can serve as a biomarker of excitatory-inhibitory (E/I) balance in neural circuits.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting 1 in 3,500 individuals worldwide due to inactivating mutations in the NF1 gene.

Many of the genes strongly associated with autism spectrum disorder (ASD) risk encode chromatin modifiers that regulate gene expression during neurogenesis.

In the current project, Stewart Mostofsky and colleagues plan to use computer vision technology to examine motor imitation ability, which is known to be crucial for social-communicative …

Humans and other animals learn many of their complex and socially-oriented behaviors by imitating more experienced individuals in their environment.

Autism spectrum disorders (ASDs) are neurodevelopmental syndromes associated with diverse genetic alterations.

Individuals with autism spectrum disorders (ASDs) exhibit phenotypic diversity that reflects the complex genetic architecture of this group of conditions, which is influenced by hundreds of rare variants …

Genetic risks for autism are diverse and encompass mutations and copy number variations in hundreds of genes.

Unpredictable and potentially dangerous aggressive behavior by youth with autism spectrum disorder (ASD) isolates them from foundational educational, social and familial activities, thereby markedly exacerbating morbidity and costs …

Gastrointestinal (GI) distress is pervasive in autism spectrum disorders (ASDs).

Neurexins constitute a family of presynaptic transmembrane molecules that interact with postsynaptic cell adhesion molecules, most notably neuroligins.

The cerebral cortex contains diverse types of excitatory projection neurons and inhibitory interneurons that form specific circuits to support healthy brain function.

New technologies for efficiently manipulating genomes have expanded autism research to mammalian models beyond the mouse.

Recent efforts in the area of microbiome research have suggested a potential role of the human microbiome in mediating the effects of genetic and environmental risk factors on …

CHD8 is a regulatory gene that binds to the promoters of autism spectrum disorder (ASD) risk genes and remodels chromatin accessibility.

A wealth of research has amassed that points to substantial sensory and language processing deficits in autism.

Pathogenic mutations in STXBP1 cause a developmental and epileptic encephalopathy (DEE) with an occurrence of approximately one in 35,000 children.

Many children with autism spectrum disorder (ASD) suffer from sleep disturbances such as difficulties in falling asleep, staying asleep or waking up early.

Autism spectrum disorders (ASDs) are complex, multigene conditions which ultimately converge to cause changes in the electrical activity in the brain.

Recent breakthroughs in antisense oligonucleotide (ASO) therapy have demonstrated that the damaging effects of some disease-causing mutations can be corrected in vivo.

The sensory and cognitive features of autism spectrum disorders (ASDs) must have origins in altered neural coding and information processing.

A strong genetic component exists among individuals with autism spectrum disorder (ASD), with an estimated heritability up to 80–90 percent; however, our existing knowledge can only explain …

Extensive genetic evidence implicates mutations in genes that encode subunits of the BAF chromatin remodeling complex (e.g., ACTL6B, ARID1B, ARID2, ATRX, BICRA, SMARCA2, SMARCA4 and SMARCC2) as …

The Autism Diagnostic Observation Schedule (ADOS-2) provides a way for clinicians to observe the social communicative behavior and play/imagination of a participant and to place these …

GABAergic neuronal signaling is essential in the development and basic functioning of the nervous system.

SCN2A, which encodes the alpha subunit of the neuronal voltage-gated sodium channel 1.2 (Nav1.2), is a high-confidence risk gene for autism spectrum disorders (ASD).

Autism spectrum disorder (ASD) is a highly heterogeneous and highly heritable condition with complex genetic contributions, and yet 20 percent of genetic risk is imparted by de novo …

Although approximately 50 percent of the risk of autism spectrum disorder (ASD) is genetic, genetics alone is insufficient for diagnosis and imparts little clinical utility for non-syndromic …

Autism spectrum disorder (ASD) is a multifactorial spectrum of neurodevelopmental conditions with complex genetic traits underlying their etiology.

Thanks to the Simons Simplex Collection and other genetic cohorts of individuals with autism spectrum disorder (ASD), over 100 high-confidence risk genes have now been identified.

A large number of mutations in chromatin regulatory proteins have been observed in autism spectrum disorders (ASDs).

Alternative splicing is recognized as a major mechanism to increase protein diversity by shuffling coding gene sequences.

Animals display a strong motivation to engage in social interactions and maintain social bonds.

Fragile X syndrome (FXS), an autism spectrum disorder (ASD) and the most common genetic form of intellectual disability in males, is caused by the loss of function of …

Autism spectrum disorder (ASD) is difficult to diagnose and treat because it is a heterogenous condition with diverse molecular and genetic etiologies.

Autism spectrum disorders (ASDs) represent a heterogeneous group of neurodevelopmental conditions with a strong genetic basis.

Autism spectrum disorders (ASDs) are prevalent neurodevelopmental disorders, characterized by difficulties in social communication and interactions as well as restricted, repetitive behaviors.

Sleep and circadian (approximately 24 hour) rhythm disturbances are prevalent in as many as 80 percent of individuals with autism spectrum disorders (ASDs).

Fragile X syndrome (FXS) is the most common cause of inherited intellectual impairment and the most frequent single gene cause of autism.

A decrease in cortical neural inhibition has been hypothesized to be a primary contributor to the neurobiological basis of autism spectrum disorder (ASD)1.

The foundation for the functional and anatomical complexity of the brain is laid during embryogenesis, when the neural plate develops into the entire central nervous system in a …

Individuals with autism spectrum disorder (ASD) often report that their sensory processing difficulties are particularly bothersome.