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UnknownA large data resource of genomic copy number variation across neurodevelopmental disorders.
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV analysis across autism spectrum disorder (ASD), ...
S-EPMC6779875 | biostudies-literature
UnknownA novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neur...
S-EPMC3303079 | biostudies-literature
UnknownCandidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.
Schizophrenia is highly heritable, yet its underlying pathophysiology remains largely unknown. Among the most well-replicated findings in neurobiological studies of schizophrenia are deficits in myelination and white matter integrity; however, direct etiological genetic and cellular evidence has thu...
S-EPMC6755981 | biostudies-literature
UnknownLarge-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.
The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or...
S-EPMC6292748 | biostudies-literature
UnknownPolygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel a...
S-EPMC5552240 | biostudies-literature
UnknownCognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.

Importance

Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age.

Objective

To deter...
S-EPMC4383767 | biostudies-literature
UnknownWhole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, cr...
S-EPMC5501701 | biostudies-literature
UnknownThe autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.
Research during the past decade has seen significant progress in the understanding of the genetic architecture of autism spectrum disorders (ASDs), with gene discovery accelerating as the characterization of genomic variation has become increasingly comprehensive. At the same time, this research has...
S-EPMC3863639 | biostudies-literature
UnknownGenomic architecture of autism from comprehensive whole-genome sequence annotation.
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide v...
S-EPMC10726699 | biostudies-literature
UnknownIndividual common variants exert weak effects on the risk for autism spectrum disorders.
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Proje...
S-EPMC3471395 | biostudies-literature
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