Research: Funded Projects

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

Brain development and function require adaptive control of protein synthesis (mRNA translation), which is often disrupted in autism spectrum disorder (ASD).

Sleep disturbances are apparent in greater than 50 percent of autistic individuals.

Autism research in genomics is hindered by fragmented data resources that are hard to combine in statistical models: while SFARI’s SPARK and Simons Simplex Collection cohorts provide …

Sleep disturbances are apparent in greater than 50 percent of autistic individuals.

The autism research landscape faces a critical data discovery bottleneck that fundamentally limits scientific progress.

Heterogeneity in autism is well documented and complicates efforts to identify biological and social mechanisms underlying the condition.

Autism is a phenotypically complex cluster of symptoms with genetic underpinnings that are governed by many common variants of subtle effect and a small number of rare, high …

Autism as a neurodevelopmental disorder causes significant reduction in reproductive rate among affected individuals.

Autism is a genetically heterogeneous condition, with contributions from de novo variants, inherited rare variants, and polygenic common variation.

Autism is a highly heritable condition that emerges during infancy and toddlerhood, a fundamental period for brain development in all children.

Most genetic risk for autism reflects the aggregate activity of thousands of common genetic differences distributed throughout the genome.

This project combines deep learning models of gene regulation with the whole-genome sequences (WGS) and phenotypes of the SPARK cohort to test the hypothesis that de novo …

Trisomy rescue, a process in which somatic cell divisions correct zygotic trisomies by discarding an extra chromosome, can generate mosaic chromosomal abnormalities with profound consequences for neurodevelopment.

De novo protein coding mutations are a major contributor to autism, and the characterization of these mutations is a major goal of SPARK and other large-scale genetic …

Sleep disturbances, primarily insomnia (difficulty initiating or maintaining sleep), are reported in up to 80 percent of children with autism spectrum disorder (ASD).

Autism spectrum disorder (ASD) has a complex genetic architecture, yet a significant fraction of cases remain unexplained.

Despite the use of genome-wide sequencing, families who present to genetics clinics seeking to understand the cause of the autism or intellectual disability (ID) in their family …

While hundreds of autism risk genes have been identified through analysis of de novo variants in probands with autism, understanding of the molecular mechanisms underlying these genetic contributions …

An open question in brain disorder research is whether behavioral phenotypes in animal models are conserved across species.

Autism spectrum disorder (ASD) remains largely unexplained at the molecular level, with whole-exome and whole-genome sequencing (WES/WGS) offering relatively low diagnostic yield.

The biological basis of the sex bias in autism (ASD) remains unclear.

In young children, ASD is diagnosed approximately four times more frequently in boys than girls, yet the underlying mechanism for this sex skewing is unclear.

Males are four times as likely as females to be diagnosed with autism, and females require significantly more autosomal genetic risk to manifest autism.

Autism genetics research faces two major challenges: understanding the higher male:female ratio in non-syndromic autism and finding the genetic basis for the 70% of non-syndromic …

Previous research has found large differences in ASD sex ratios by age of diagnosis.

A key manifestation of social communication deficits in autism spectrum disorder (ASD) is impaired perception of speech prosody.

Despite recent progress, the development of tailored therapies for autism spectrum disorder (ASD) requires identifying the causal links between genetic, cellular and neural circuit defects that lead to …

Autism spectrum disorder (ASD) is a neurodevelopmental condition with a strong genetic basis, but how genes contribute to abnormal circuit assembly remains unclear.

Hypoxia-inducible factor (HIF), which consists of a labile HIFa subunit and stable HIFb (ARNT) subunit, is a master transcription factor that activates genes whose products promote adaptation …

Changes in microglia, the immune cells of the brain, have been recognized in brain tissue of individuals with autism spectrum disorders (ASD) for over 15 years, but it …

Autism can occur in isolation or as part of a syndrome which includes other neurodevelopmental disorders.

Autism spectrum disorder (ASD) is a heritable neurodevelopmental condition marked by deficits in social communication.

Autism spectrum disorders (ASDs) are associated with disruptions in the development and function of GABAergic neurons1, which are critical for maintaining the balance of excitation and inhibition in …

While autism (ASD) is a heterogeneous disorder, a significant fraction of ASD genetic risk is conferred by genes encoding for relatively selective functions, including synaptic proteins, and regulators …

Proper brain function relies on the precise formation of neural circuits during development.

Autism spectrum disorder (ASD) is associated with auditory hypersensitivity and auditory processing disorders.

Dysregulation of voltage-gated sodium channels (VGSC) is a prominent risk factor for autism spectrum disorder (ASD).

Autism spectrum disorder (ASD) is a neurodevelopmental condition that is frequently characterized by movement disorders, including stereotyped repetitive hand movements, difficulties with gait, balance, and coordination, and delays …

Autism spectrum disorder (ASD) is a neurodevelopmental disease that is frequently characterized by movement disorders, including stereotyped repetitive hand movements, difficulties with gait, balance, and coordination, and delays …

Neurons derived from induced pluripotent stem cells (iPSCs) from individuals with autism offer the singular avenue to directly test novel therapeutic compounds for efficacy in treating autism spectrum …

Fragile X syndrome (FXS) is the most frequent monogenic cause of autism spectrum disorder (ASD).

Individuals with autism spectrum disorder (ASD) show varied phenotypes across social, communicative, sensory and motor domains.

There are hundreds of neurodevelopmental disorder (NDD) syndromes that cause autism because of the insufficient production of protein due to de novo mutations of specific genes.

Large-scale genetic studies have identified hundreds of genes associated with autism spectrum disorder (ASD).

Difficulties with oromotor behaviors, like speech and feeding, are daily challenges for many individuals with autism.

The digestive distress that commonly accompanies autism spectrum disorder (ASD) significantly degrades the quality of life of those affected and their families1.

Autism spectrum disorder (ASD) is often linked to mutations in genes regulating synaptic development and mRNA translation, implicating synaptic connectivity in its pathogenesis.