Research: Funded Projects

SFARI has been a leader in using whole-genome sequencing (WGS) to interrogate the genetic causes of autism spectrum disorder (ASD).

One of the most important objectives of autism spectrum disorder (ASD) interventions is to improve spoken communicative language skills.

Despite advances in elucidating the genetic basis of autism, there remains uncertainty about the specific causal genes involved in pathogenesis and how their functions are neurodevelopmentally regulated.

Although a strong genetic component is evident in the etiology of autism spectrum disorders (ASD), mutations in any given ‘ASD susceptibility gene’ account for less than 1% of …

Autism spectrum disorder (ASD) is characterized by behavioral symptoms that become apparent in early childhood but that have lifelong debilitating effects.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that broadly impacts perceptual, cognitive, social and motor functions.

The widespread use of genome sequencing has provided the research community with an incredible, new opportunity to determine the root causes of autism by uncovering genes that are …

Shrikanth (Shri) Narayanan’s overall goal is to create capabilities in robust and context-aware audio processing.

Despite progress in elucidating the genetic and neural underpinnings of autism spectrum disorder (ASD), clinical assessments are still the gold standard for diagnosing and evaluating outcomes.

Autism spectrum disorders (ASDs) are complex, heritable and highly heterogeneous neurodevelopmental conditions, where clinical symptoms often co-occur with other psychiatric conditions.

Thorough understanding of the genetic causes of autism spectrum disorder (ASD) is critical to improve clinical care and advance biomedical sciences.

Investigations into the genetic basis of autism spectrum disorder (ASD) have focused on the opposite extremes of rare de novo mutations and common polygenic risk.

Common variation in aggregate contributes to a substantial proportion of risk for developing autism spectrum disorder (ASD).

Electroencephalogram (EEG) assessments noninvasively detect electrical activity using electrodes easily attached to one’s scalp, providing a rich neural signal that captures many aggregate neural phenomena.

Autism spectrum disorder (ASD) is among the most highly heritable neuropsychiatric disorders, with a genetic architecture including significant contributions from both common and rare genetic variation.

The last several years have seen remarkable progress in the discovery of genetic variation that significantly influences the genetic risk of developing autism spectrum disorder (ASD).

Clinical and pathological studies of individuals diagnosed with autism spectrum disorder (ASD) have repeatedly implicated the cerebellum in ASD pathogenesis.

Sporadic point mutations and large copy number variants (CNVs) contribute significantly to the etiology of autism and currently account for approximately 10–30% of cases.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with core behaviors that include social challenges and repetitive and restricted behaviors.

Autism spectrum disorders (ASDs) have a prevalence of 1.5 percent in the general population, with affected individuals characterized by varying levels of developmental, intellectual and behavioral impairments.

Autism spectrum disorders (ASDs) are a broad spectrum of conditions characterized by impairments in social interactions and communication, as well as restricted and repetitive behaviors.

Autism spectrum disorders (ASDs) are a group of pervasive neurodevelopmental disorders affecting approximately 1 in 59 children born in the United States.

Denis Sukhodolsky and Kevin Pelphrey seek to develop more precise treatments for children with autism spectrum disorder (ASD), guided by their distinct neural profiles.

Autism spectrum disorders (ASDs), thought to arise from interactions among multiple heterogeneous genetic and environmental factors, are typically not diagnosed until early childhood, following the onset of behavioral …

The voltage-gated sodium (Nav), calcium (Cav) and potassium (Kv) channels that generate action potentials in neurons are among the most frequent targets of de novo mutations that …

Gene discovery in autism spectrum disorders (ASD) has accelerated rapidly, resulting in an extensive list of reliably associated genes.

Through the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) sequencing efforts, thousands of de novo coding mutations have been identified in individuals with autism spectrum …

Genetic research in autism has led to the discovery of a growing list of highly penetrant mutations that contribute to disease pathophysiology.

The cerebral cortex is the dominant structure of the mammalian brain, and it is widely affected in autism spectrum disorders (ASD), with impairments in sensory processing reflecting a …

A major challenge to the investigation of cellular mechanisms underlying autism spectrum disorders (ASDs) is to identify convergent neural ‘signatures’ linking common cognitive and behavioral changes with the …

Autism spectrum disorders (ASD) have a strong male bias, as documented extensively in both epidemiological and genetic studies.

Protocadherin 19 (PCDH19), PCDH10 and PCDH17 are homophilic cell adhesion molecules that belong to the δ2-protocadherin family.

Whole-genome sequencing (WGS) now enables a survey of most of the genome and has resulted in the discovery of two orders of magnitude more de novo variants …

Abnormal assembly of neurons into circuits during corticogenesis is at the core of the behavioral deficits found in individuals with autism spectrum disorder (ASD).

Children and adults with autism spectrum disorder (ASD) and little or no spoken language, labeled ‘minimally verbal’ (MV), often fail conventional assessments of cognitive abilities and are typically …

Several postmortem studies of autism spectrum disorders (ASDs) have found cortical abnormalities consistent with focal cortical dysplasias (FCDs).

Joseph Gleeson proposes to identify mechanisms and origins of de novo mutations (DNMs), which make important contributions to the risk of autism spectrum disorder (ASD).

Autism spectrum disorders (ASDs) have traditionally been thought of as primarily disorders of cognition.

Autism spectrum disorder (ASD), characterized by core challenges in socialization and restrictive and repetitive behaviors, has a complicated relationship with intellectual disability (ID), which is characterized by core …

The prefrontal cortex (PFC) is critical for social communication and the integration of the cognitive, affective and motivational domains.

During early life, the auditory system normally undergoes tremendous development and plasticity; however, this typical maturation is perturbed in individuals with autism spectrum disorder (ASD).

Mutations in FOXP1 are among the most significant recurrent de novo mutations associated with autism spectrum disorder (ASD).

Autism spectrum disorder (ASD) remains a medical enigma due to the many clinical forms, the rise in prevalence worldwide and the vast genetic heterogeneity involved.

The last decade has seen remarkable progress in gene discovery for autism spectrum disorder (ASD), catalyzed by exome sequencing of the 1.5 percent of the genome that …

There is an urgent need to leverage the rapidly expanding list of autism spectrum disorder (ASD) risk genes to gain an actionable understanding of the biology of ASD …

Genetic factors account for the bulk of autism risk, but environmental factors are also implicated in risk.

Fragile X syndrome (FXS) is a heritable disease caused by mutations in the fragile X mental retardation 1 gene (FMR1) and carries a high risk for autism spectrum …

Despite the fact that autism spectrum disorders (ASDs) are considered neurodevelopmental disorders, the precise links between early brain development abnormalities and later functional deficits remain largely unknown.