Analysis of intellectual disability copy number variants for association with schizophrenia
Importance At least 11 rare copy number variants (CNVs) have been shown to be major risk
factors for schizophrenia (SZ). These CNVs also increase the risk for other …
factors for schizophrenia (SZ). These CNVs also increase the risk for other …
Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population
N Matsunami, D Hadley, CH Hensel, GB Christensen… - PloS one, 2013 - journals.plos.org
Structural variation is thought to play a major etiological role in the development of autism
spectrum disorders (ASDs), and numerous studies documenting the relevance of copy …
spectrum disorders (ASDs), and numerous studies documenting the relevance of copy …
Large mosaic copy number variations confer autism risk
MA Sherman, RE Rodin, G Genovese, C Dias… - Nature …, 2021 - nature.com
Although germline de novo copy number variants (CNVs) are known causes of autism
spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number …
spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number …
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays
Individually rare, large copy number variants (CNVs) contribute to genetic vulnerability for
schizophrenia. Unresolved questions remain, however, regarding the anticipated yield of …
schizophrenia. Unresolved questions remain, however, regarding the anticipated yield of …
[HTML][HTML] Novel insight into the etiology of autism spectrum disorder gained by integrating expression data with genome-wide association statistics
Background A recent genome-wide association study (GWAS) of autism spectrum disorder
(ASD)(n cases= 18,381, n controls= 27,969) has provided novel opportunities for …
(ASD)(n cases= 18,381, n controls= 27,969) has provided novel opportunities for …
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism
E van Daalen, C Kemner, NE Verbeek… - Neurogenetics, 2011 - Springer
Recent array-based studies have detected a wealth of copy number variations (CNVs) in
patients with autism spectrum disorders (ASD). Since CNVs also occur in healthy …
patients with autism spectrum disorders (ASD). Since CNVs also occur in healthy …
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
A Guilmatre, C Dubourg, AL Mosca… - Archives of general …, 2009 - jamanetwork.com
Context Results of comparative genomic hybridization studies have suggested that rare
copy number variations (CNVs) at numerous loci are involved in the cause of mental …
copy number variations (CNVs) at numerous loci are involved in the cause of mental …
Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease
AS Bassett, SW Scherer… - American Journal of …, 2010 - Am Psychiatric Assoc
Objective Structural variations of DNA, such as copy number variations (CNVs), are
recognized to contribute both to normal genomic variability and to risk for human diseases …
recognized to contribute both to normal genomic variability and to risk for human diseases …
De novo synonymous mutations in regulatory elements contribute to the genetic etiology of autism and schizophrenia
We analyze de novo synonymous mutations identified in autism spectrum disorders (ASDs)
and schizophrenia (SCZ) with potential impact on regulatory elements using data from …
and schizophrenia (SCZ) with potential impact on regulatory elements using data from …
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …