Funded Work

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.

As we age, our ability to learn and remember starts to decline, even in the absence of age-related dementia.

Advances in disease prevention and therapeutics have enabled humans to live longer than ever before.

Cognitive function declines with age, reflecting a complex and interrelated set of changes in neurons, neural stem cells, glia and vascular cells.

Aging is accompanied by a striking reduction in deep sleep and sleep structure.

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.

An art/design incubator that brings scientific research into mainstream dialogue, translating complex issues for the general public.

A weeklong summer camp offering hands-on STEAM education for underprivileged youth in Queens, NY.

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.

Approximately 100 risk genes for autism spectrum disorder (ASD) have emerged from studies focused on identifying germline de novo mutations (GDMs) within the exome.

The SCN2A gene encodes the alpha subunit of the neuronal voltage-gated sodium channel NaV1.2.

Genomic copy number variation (CNV) of part of human chromosome 1 (1q21.1 distal deletion/duplication interval) has been associated with autism spectrum disorder (ASD) in multiple studies …

High-confidence autism risk genes fall within several distinct functional categories, which include synaptic genes, WNT pathway genes and genes encoding chromatin remodeling factors.

Gene-disrupting genetic variants frequently lead to neurodevelopmental disorders, including autism spectrum disorder (ASD), when they occur in one of the several hundred genes associated with these conditions.

Computational gene risk prediction methods and network-based analyses are major tools in analyzing large autism spectrum disorder (ASD) datasets based on whole-exome and whole-genome sequencing …

The search for therapies for autism spectrum disorder (ASD) might benefit from discovering reliable endophenotypes in animal models, especially if these could be adapted to in vitro assays …

Gastrointestinal issues have been identified as a comorbidity of autism spectrum disorder (ASD).

Much progress has been made in our understanding of the genetic and molecular factors underlying autism, and how they affect structural and electrophysiological properties of single neurons and …

In addition to social challenges and communication difficulties, a commonly associated feature of autism spectrum disorder (ASD) is alterations in sensory function, including changes in touch, vision and …