Research: Funded Projects

Individuals with autism spectrum disorder (ASD) exhibit high levels of behavioral inflexibility, characterized by “insistence on sameness” and restricted, repetitive patterns of behavior.

In spite of significant, recent advances in the molecular genetics and neuroscience of mental health disorders, behavioral ratings based on clinical observations are still the gold standard for …

Human brain evolution has played a pivotal role in the success of the human species, but it is also linked to an increased susceptibility to neurodevelopmental disorders such …

Mutations in calcium channels and calcium-signaling proteins have been reproducibly linked to neurodevelopmental disorders, including autism spectrum disorders (ASD), underscoring essential roles for calcium-dependent signaling in …

Repetitive behaviors and altered movements are often observed in children with autism.

Rapid progress in identifying penetrant and common genetic risk factors is yielding deep insights into putative molecular networks affected in autism spectrum disorder (ASD).

Autism spectrum disorders (ASDs) are prevalent neurodevelopmental disorders characterized by repetitive behaviors and impairments in social interaction.

Myt1-like (Myt1l) is a zinc finger transcription factor that has a unique expression pattern: it is both highly specific for and is expressed in virtually all neurons.

The striatum is the major input structure for the basal ganglia, processing inputs from virtually all cerebral cortical areas and from the thalamus, thus modulating motor, emotional and …

Gastrointestinal (GI) disorders are among the most common medical comorbidities in individuals with autism spectrum disorder (ASD).

Cellular function is intimately linked to subcellular architecture.

Pamela Ventola seeks to develop more precise treatments for children with autism spectrum disorder (ASD), guided by their distinct brain profiles.

The recent explosion in the identification of genetic risk factors for autism spectrum disorder (ASD) has revealed many genes that are likely to be involved in these debilitating …

Defects in sensory information processing are considered to be almost universal in individuals with autism spectrum disorder (ASD).

Fragile X syndrome (FXS) is a devastating X-linked genetic disorder that is the most-common known cause of inherited intellectual disability.

The subunits of the switch/sucrose non-fermentable (i.e., BAF or SWI/SNF) complex are among the most commonly mutated genes in human neurodevelopmental disease and include …

Autism spectrum disorder (ASD) exhibits complex genetic architecture with well-demonstrated contributions of both common and rare, especially de novo, variants.

Despite substantial recent progress in the discovery of multiple rare de novo and inherited causative mutations in over 100 genes, most of the genetic liability of autism spectrum …

Viral infection during pregnancy correlates with increased frequency of neurodevelopmental disorders in offspring, a phenomenon well studied in mice prenatally subjected to maternal immune activation (MIA).

Although autism spectrum disorders (ASDs) are traditionally described as disorders of the central nervous system, there is emerging evidence suggesting the presence of systemic physiological abnormalities, such as …

During corticogenesis, excitatory neurons are born from neural progenitor cells (NPCs).

The etiology of autism spectrum disorder (ASD) is poorly understood; however, emerging clinical and epidemiological data have linked dysregulated immune responses with ASD.

Whole-exome and whole-genome surveys have revealed multiple transcriptional regulators harboring loss of function mutations associated with risk for autism spectrum disorder (ASD).

One of the most important steps in understanding the biology of autism spectrum disorder (ASD) is elucidating the basic neurodevelopmental mechanisms governing cell type specification and how these …

Genetic and phenotypic heterogeneity occurs in many diseases, including autism.

In this project, Jeffrey Macklis will directly investigate interhemispheric callosal projection neuron (CPN) axonal growth cone (GC) molecular machinery, abnormalities of CPN connectivity and dose-dependent direct effects …

High confidence ASD (hcASD) genes encode proteins that regulate synapse formation, neuronal activity and transcription regulation, including chromatin regulation.

Multiple behaviors disrupted in autism spectrum disorders (ASDs), including the integration of sensory stimuli and social interaction, are associated with the dysfunction of striatal synapses.

A number of genetic mutations have been linked to an increased risk for autism spectrum disorder (ASD).

The cellular and developmental basis of autism spectrum disorder (ASD) still represents a significant gap in our knowledge of this developmental disorder.

Finding treatments for autism spectrum disorder (ASD) has been challenging because its etiology is so poorly understood.

Imbalances in excitatory versus inhibitory postsynaptic signaling in the central nervous system (CNS) have been associated with autism spectrum disorders (ASD).

Autism spectrum disorder (ASD) is a major neurodevelopmental disorder, yet despite its prevalence and severity, the substantial genetic heterogeneity of ASD (>700 associated genes) has been a major …

Approximately 30 percent of autism spectrum disorder (ASD) cases can be explained by rare de novo variants disrupting gene function.

Autism spectrum disorder (ASD) is seen as a collection of disorders that is predominantly developmental in nature and largely genetic in origin.

The Simons Initiative for the Developing Brain (SIDB) was established in 2017.

Most individuals with autism experience at least one form of hypersensitivity from the five senses.

It has been established that children and adolescents with autism spectrum disorder (ASD) show a wide range of abilities to use spoken words and establish interactive conversations.

Autism spectrum disorder (ASD) afflicts 1 in 68 individuals in the United States and represents a substantial emotional and financial burden on our society.

Autism spectrum disorders (ASDs) are characterized by a variety of behavioral deficits including perseverative behavior.

Very little is known about the potential neural abnormalities that exist in the initial stages of autism development.

A number of studies have lead to the suggestion that disruptions to chloride homeostasis play a role in a variety of neurological and neurodevelopmental disorders.

Little is known or understood about the molecular mechanisms responsible for social cognitive development and the diseases associated with its aberrations, such as autism spectrum disorder (ASD).

Whole-exome sequencing studies utilizing samples from the Simons Simplex Collection and other autism cohorts have identified multiple variants in SCN2A, a gene encoding a neuronal voltage-gated …

Several key barriers exist to unraveling the mechanistic etiologies of autism spectrum disorder (ASD).

Autism spectrum disorders (ASDs) encompass a number of disorders that are typified by communication deficits, reduced behavioral flexibility, poor socialization, learning disabilities and a tendency toward repetitive behaviors.

Autism is a neurodevelopmental disorder, and sensorimotor disturbances are among the earliest signs of atypical development in autism, revealing themselves in early infancy.

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