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Article
Open AccessColitis reduces active social engagement in mice and is ameliorated by supplementation with human microbiota members
Multiple neurological disorders are associated with gastrointestinal (GI) symptoms, including autism spectrum disorder (ASD). However, it is unclear whether GI distress itself can modify aspects of behavior. H...
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Article
Open AccessWhole-genome sequencing analysis of suicide deaths integrating brain-regulatory eQTLs data to identify risk loci and genes
Recent large-scale genome-wide association studies (GWAS) have started to identify potential genetic risk loci associated with risk of suicide; however, a large portion of suicide-associated genetic factors af...
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Article
Neurite outgrowth deficits caused by rare PLXNB1 mutation in pediatric bipolar disorder
Pediatric bipolar disorder (PBD) is a severe mood dysregulation condition that affects 0.5–1% of children and teens in the United States. It is associated with recurrent episodes of mania and depression and an...
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Article
Open AccessGenome-wide association study meta-analysis of suicide death and suicidal behavior
Suicide is a worldwide health crisis. We aimed to identify genetic risk variants associated with suicide death and suicidal behavior. Meta-analysis for suicide death was performed using 3765 cases from Utah an...
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Article
A genome-wide association study of suicide attempts in the million veterans program identifies evidence of pan-ancestry and ancestry-specific risk loci
To identify pan-ancestry and ancestry-specific loci associated with attempting suicide among veterans, we conducted a genome-wide association study (GWAS) of suicide attempts within a large, multi-ancestry coh...
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Article
Open AccessNeurexin 1 variants as risk factors for suicide death
Suicide is a significant public health concern with complex etiology. Although the genetic component of suicide is well established, the scope of gene networks and biological mechanisms underlying suicide has ...
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Article
Open AccessAssessment of suicide attempt and death in bipolar affective disorder: a combined clinical and genetic approach
Bipolar disorder (BP) suicide death rates are 10–30 times greater than the general population, likely arising from environmental and genetic risk factors. Though suicidal behavior in BP has been investigated, ...
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Article
Open AccessGenome-wide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide
Suicide is the 10th leading cause of death in the United States. Although environment has undeniable impact, evidence suggests that genetic factors play a significant role in completed suicide. We linked a res...
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Article
Brief Report: Genetic Links Between Autism and Suicidal Behavior—A Preliminary Investigation
Evidence suggests there may be increased risk for suicidal behavior among individuals with autism spectrum disorder (ASD). An emerging body of research explores social factors that may contribute to increased ...
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Article
Open AccessThe role of rare compound heterozygous events in autism spectrum disorder
The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compo...
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Article
Correction to: Early Second Trimester Maternal Serum Steroid‑Related Biomarkers Associated with Autism Spectrum Disorder
The original version of the article has been published without funding source information.
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Article
Early Second Trimester Maternal Serum Steroid-Related Biomarkers Associated with Autism Spectrum Disorder
Epidemiologic studies link increased autism spectrum disorder (ASD) risk to obstetrical conditions associated with inflammation and steroid dysregulation, referred to as prenatal metabolic syndrome (PNMS). Thi...
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Article
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
Genomic association studies of common or rare protein-coding variation have established robust statistical approaches to account for multiple testing. Here we present a comparable framework to evaluate rare an...
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Article
Open AccessAllele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes
Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder, and the exact causal mechanism is unknown. Dysregulated allele-specific expression (ASE) has been identified in persons with AS...
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Open AccessVARPRISM: incorporating variant prioritization in tests of de novo mutation association
Patients with certain genetic diseases, such as autism spectrum disorder, have increased rates of de novo mutations within some protein-coding genes.
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Article
Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts
The mu1 opioid receptor gene, OPRM1, has long been a high-priority candidate for human genetic studies of addiction. Because of its potential functional significance, the non-synonymous variant rs1799971 (A118G, ...
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Article
APOH interacts with FTO to predispose to healthy thinness
We identified eight candidate thinness predisposition variants from the Illumina HumanExome chip genotyped on members of pedigrees selected for either healthy thinness or severe obesity. For validation, we tes...
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Article
Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders, characterized by impairment in communication and social interactions, and by repetitive behaviors. ASDs are highly heritable, and e...
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Article
Spatial Relative Risk Patterns of Autism Spectrum Disorders in Utah
Heightened areas of spatial relative risk for autism spectrum disorders (ASD), or ASD hotspots, in Utah were identified using adaptive kernel density functions. Children ages four, six, and eight with ASD from...
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Article
Psychiatric Comorbidity and Medication Use in Adults with Autism Spectrum Disorder
The purpose of this study was to investigate comorbid psychiatric disorders and psychotropic medication use among adults with autism spectrum disorder (ASD) ascertained as children during a 1980’s statewide Ut...
