Research: Funded Projects

Alternative splicing shows a unique profile in the brain and the dysregulation of alternative splicing networks has been repeatedly reported in autistic brains.

Placental dysfunction is highly associated with abnormal fetal brain development and neurodevelopmental disorders such as autism.

Disruptions in social attachment and cognition occur in the context of autism spectrum disorder (ASD).

Atypical sensory processing is widely observed in individuals with autism spectrum disorder (ASD) although the underlying biological mechanisms are unknown.

A fundamental function of sensory systems is to segment sensory inputs into distinct perceptual objects (termed perceptual grouping and segmentation, PGS).

Myelin, the lipid bilayer wrapping axons, contributes to increasing the conduction velocity of axons and to providing axonal metabolic support.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by a wide range of cognitive and behavioral alterations.

Fragile X syndrome (FXS) is an X-linked neurodevelopmental condition and one of the most common monogenic causes of inherited intellectual disability and autism spectrum disorder (ASD).

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social communication and repetitive behavior.

Antisense oligonucleotides (ASOs) demonstrate promise as therapeutic approaches for treating genetic disorders of the central nervous system, as exemplified by the clinical success of nusinersen (a splice-modulating …

Although much research on autism spectrum disorder (ASD) is focused on social and cognitive behaviors, recent evidence has highlighted sensory processing as a key alteration in ASD.

Signs of autism emerge as early as 6 to 12 months of age, but the average age of diagnosis in the United States is four years.

Haploinsufficiency of select chromatin regulators is frequently associated with autism.

Decades of research have documented abnormal white matter integrity1–4 and reduced axonal conduction velocities5, 6 in people with idiopathic and syndromic autism spectrum disorder (ASD).

Many kinases have been linked to monogenic subtypes of autism spectrum disorder (ASD), but their role in the mechanisms underlying disease etiology is not well understood.

A large subset of genes associated with autism are transcription factors or epigenetic regulators whose disruption causes broad dysregulation of gene expression during all stages of brain development.

UBE3A is an imprinted gene that encodes an E3 ubiquitin ligase (also known as UBE3A) associated with two developmental disorders.

Individuals with autism spectrum disorder (ASD) process information differently from neurotypical individuals.

The genetic architecture of autism spectrum disorder (ASD) includes rare protein-truncating variants with large effect sizes as well as common variation conferring much smaller effect sizes.

Aggression is the most common reason for hospitalization in children with autism spectrum disorder (ASD).

The current proposal entails a series of significant conceptual and technological advances.

In this project, Michael Piper and colleagues plan to analyze how H3K36 methylation impacts neural stem cell development and subsequent brain function, using transgenic mouse models lacking the …

Disruption of cortical excitatory and inhibitory neuron development has been implicated in autism spectrum disorder (ASD) by postmortem brain analyses and ASD risk genes.

Missense variants are the most abundant type of protein-altering variants in coding regions in the genome.

Genetics play a prominent role in autism, as nearly 1,000 genes have been nominated as contributors in the form of point mutations, single gene deletions and chromosomal …

Copy number variations (CNVs) of the human 16p11.2 genetic locus are associated with a number of neurodevelopmental and psychiatric conditions.

Chronic sleep disruption is a major comorbidity seen in more than 80 percent of children with autism spectrum disorder (ASD).

Autism spectrum disorders (ASD) are characterized by difficulties in social decision-making, posing a significant challenge for individuals with ASD.

The primary goal of human genetics is to understand the relationship between DNA sequence variation and disease.

Individuals with X-linked CDKL5 deficiency disorder (CDD) exhibit many features common to autism spectrum disorder (ASD), including increased risk of seizures, cognitive impairment and altered sensory sensitivity.

While autism spectrum disorder (ASD) is highly heterogeneous in etiology and severity, the majority of autistic individuals exhibit an array of co-morbid symptoms, including aberrant reactivity to …

Mutations in chromatin regulators have emerged as a major cause of autism spectrum disorder (ASD).

Recognizing others’ moods, emotions and intentions from facial expressions lies at the core of human interpersonal communication and social engagement.

Chromatin-regulatory genes are among the most common classes of genes mutated in autism spectrum disorder (ASD) and intellectual disability (ID).

About two-thirds of children with autism spectrum disorder (ASD) experience severe sleep disturbances.

Most forms of autism spectrum disorder (ASD) are thought to be caused by disruptions in molecular processes involved in gene regulation or synaptic function.

Genetic variants in chromatin remodeling complexes are one of the most frequently attributed genetic causes of autism spectrum disorder (ASD) and intellectual disability (ID).

Atypical sensory perception is highly prevalent in individuals with autism spectrum disorder (ASD).

Autism spectrum disorder (ASD) is a highly heterogeneous condition with a complex genetic basis.

Among the highly penetrant risk genes for autism spectrum disorder (ASD), many of them encode synaptic proteins and chromatin regulators.

Relative to the whole body, the brain uses 10 times more energy by weight.

For social animals and humans to thrive, they must exhibit social competence, a key component of which is adjusting behavior based on social history.

Many individuals with autism spectrum disorder (ASD) experience persistent agitation or aggression, which has an enormous impact on their and their families’ quality of life.

Several transcriptional regulator genes are strongly associated with an increased risk of autism spectrum disorder (ASD).

Functional genomic studies have identified a convergence of autism risk factors during mid-fetal cerebral cortical development1-2, a crucial period for the assembly for cortical circuits.

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

The tremendous genotypic and phenotypic diversity underlying autism spectrum disorder (ASD) has made it extremely challenging to pinpoint causal mechanisms, distinguish the effects of individual genetic variants, stratify …

Rare and high-penetrance mutations are key contributors to the risk of autism spectrum disorder (ASD).