Transcriptomic analysis of autistic brain reveals convergent molecular pathology
Autism spectrum disorder (ASD) is a common, highly heritable neurodevelopmental
condition characterized by marked genetic heterogeneity,,. Thus, a fundamental question is …
condition characterized by marked genetic heterogeneity,,. Thus, a fundamental question is …
Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD
Neuropsychiatric disorders classically lack defining brain pathologies, but recent work has
demonstrated dysregulation at the molecular level, characterized by transcriptomic and …
demonstrated dysregulation at the molecular level, characterized by transcriptomic and …
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism
Autism spectrum disorder (ASD) involves substantial genetic contributions. These
contributions are profoundly heterogeneous but may converge on common pathways that …
contributions are profoundly heterogeneous but may converge on common pathways that …
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with
complex genetic origins,,,. Previous studies focusing on candidate genes or genomic …
complex genetic origins,,,. Previous studies focusing on candidate genes or genomic …
Autism genes converge on asynchronous development of shared neuron classes
B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
Synaptic, transcriptional and chromatin genes disrupted in autism
The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …
A genome-wide linkage and association scan reveals novel loci for autism
LA Weiss, DE Arking… - Nature, 2009 - nature.com
Although autism is a highly heritable neurodevelopmental disorder, attempts to identify
specific susceptibility genes have thus far met with limited success. Genome-wide …
specific susceptibility genes have thus far met with limited success. Genome-wide …
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
It is well established that autism spectrum disorders (ASD) have a strong genetic
component; however, for at least 70% of cases, the underlying genetic cause is unknown …
component; however, for at least 70% of cases, the underlying genetic cause is unknown …
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 …
Patterns of de novo tandem repeat mutations and their role in autism
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by
deficits in communication and social interaction and restrictive or repetitive behaviours …
deficits in communication and social interaction and restrictive or repetitive behaviours …