Research: Funded Projects

Genetic analyses of copy-number variants, single-nucleotide variants and chromosomal translocations, as well as co-expression network analysis of postmortem brain tissue, have implicated the human RBFOX1 …

Autism is a neurodevelopmental disorder in which individuals display a range of challenges in social cognition, language and sensory perception.

Neuroimaging studies have described altered structural and functional connectivity across brain regions of individuals with autism spectrum disorder (ASD).

Hundreds of susceptibility genes have been identified for autism spectrum disorder (ASD), and many are related to synaptic function.

Anthony Wynshaw-Boris and his colleagues are investigating the hypothesis that a subset of individuals with autism spectrum disorders (ASD) (approximately 25-30 percent) display early brain overgrowth.

The gene encoding the transcription factor FOXP1 is strongly implicated in the etiology of individuals with autism spectrum disorder (ASD) and of those with intellectual disability.

Autism spectrum disorders (ASDs) represent a group of neurodevelopmental disorders for which the underlying etiologies are heterogeneous.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that is the result of interplay amongst hundreds of genes.

Motor dysfunction is common in autism.

The diagnostic dyad defining autism spectrum disorder (ASD) belies a tremendous phenotypic heterogeneity that remains a key challenge to diagnosis and treatment.

Somatic mosaicism, or the emergence of variations in the sequence or structure of the genome of somatic cells, has been detected in both healthy individuals and individuals with …

Components of the mammalian target of rapamycin (mTOR) signaling pathway are key players in the pathogenesis of autism spectrum disorder (ASD).

Autism spectrum disorder (ASD) is diagnosed in boys 4-5 times more frequently than in girls.

In contrast to rare copy number variants (CNVs) causing classical syndromes such as Smith-Magenis syndrome and Williams syndrome, recent studies have identified a class of rare CNVs …

Fragile X syndrome is the most common heritable form of intellectual disabilities and a leading genetic cause of autism, caused by mutation of the gene encoding FMRP.

Aberrant PI3K/PTEN signaling during brain development has emerged as a key determining factor in autism spectrum disorders (ASDs).

Individuals with autism spectrum disorder (ASD) have structural and functional deficits of the temporoparietal junction (TPJ), as well as problems with social and executive functions, which are associated …

Over the past few years, the number of genes associated with autism spectrum disorder (ASD) has increased substantially.

A large number of autism risk genes encode proteins that play critical roles in regulating the formation, maturation and function of synaptic connections in the brain, yet the …

Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental syndromes characterized by repetitive behaviors and deficits in the core domains of language development and social interactions.

Attentional deficits are a major cause of disability in individuals with autism.

GABA is the key inhibitory neurotransmitter of the mature brain, and most synaptic inhibition is mediated by GABAA receptors.

Research into the developmental underpinnings of autism spectrum disorder (ASD) is hampered by a lack of techniques for describing neural development at the cellular and circuit levels.

Single-nucleotide polymorphism genotyping and whole-exome and whole-genome sequencing studies have been key for the identification of genetic loci and mutations underlying autism spectrum disorder (ASD …

Autism spectrum disorder (ASD) is diagnosed in an increasingly large proportion of the population.

The genetic heterogeneity of autism spectrum disorders (ASDs) has hindered the development of targeted therapies.

Both genetic and environmental factors contribute to the development of autism spectrum disorder (ASD).

The brain abnormalities that lead to autism spectrum disorder (ASD) remain poorly understood.

One hallmark of several autism spectrum disorders (ASDs) is altered protein synthesis in the brain, which results in synaptic dysfunction and disease pathology.

Autism spectrum disorders (ASDs) comprise a heterogeneous set of neurodevelopmental and neuropsychiatric conditions that affect both social and nonsocial behavior.

The purpose of this study is to determine the effects of fever on the behavior of young children (aged 2 to 7 years) with autism spectrum disorder (ASD …

Technological advances in whole-genome sequencing (WGS) to study complex genetic disorders have outpaced innovations in the analysis of large genetic datasets.

Autism spectrum disorder (ASD) risk is imparted by both common and rare genetic variation, making it, in part, a collection of rare diseases.

Many of the mutations known to be associated with autism spectrum disorder (ASD) affect protein complexes that support the development and function of synapses.

Genetics plays a central role in autism spectrum disorder (ASD), yet much remains unknown about how DNA sequence variation predisposes individuals to ASD.

Amniotic fluid (AF) and cerebrospinal fluid (CSF) are routinely sampled for biomarkers of diseases, including autism spectrum disorder (ASD).

It is well established that homeostatic signaling systems interface with the mechanisms of developmental and learning-related plasticity to achieve stable yet flexible neural function and animal behavior.

An imbalance in excitatory/inhibitory transmission, due to alterations in GABAergic signaling, has been suggested as an underlying cause of autism.

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

Autism spectrum disorders (ASD) are frequently associated with immune dysregulation.

Individuals with autism spectrum disorder (ASD) show persistent deficits in social communication and interaction.

Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental syndromes characterized by repetitive behaviors and deficits in language development and social interactions.

SPARK (Simons Foundation Powering Autism Research for Knowledge) is an autism research initiative that aims to recruit, engage and retain a community of 50,000 individuals with autism …

Autism spectrum disorders (ASDs) are highly heritable but have a complex genetic architecture.

Autism spectrum disorder (ASD), affecting 1 in 68 children in the U.S., is a significant unresolved public health concern.

Recent advances in genome-wide approaches for gene discovery in autism spectrum disorders (ASDs) have identified a large list of strongly associated ASD risk genes, as well as …

Gene discovery in autism spectrum disorders (ASDs) has accelerated in the past several years.

Chromosomal microarray analysis (CMA) is a robust technology officially recommended for children with autism spectrum disorders (ASDs).