Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder. Large
genetically informative cohorts of individuals with ASD have led to the identification of a …
genetically informative cohorts of individuals with ASD have led to the identification of a …
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders
(NDDs) often carry disruptive mutations in genes that are depleted of functional variation in …
(NDDs) often carry disruptive mutations in genes that are depleted of functional variation in …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
Common risk variants identified in autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
[HTML][HTML] Novel insight into the etiology of autism spectrum disorder gained by integrating expression data with genome-wide association statistics
O Pain, AJ Pocklington, PA Holmans, NJ Bray… - Biological …, 2019 - Elsevier
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 …
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia
Molecular autism, 2017 - Springer
Background Over the past decade genome-wide association studies (GWAS) have been
applied to aid in the understanding of the biology of traits. The success of this approach is …
applied to aid in the understanding of the biology of traits. The success of this approach is …
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a
combination of rare de novo and inherited variants as well as common variants in at least …
combination of rare de novo and inherited variants as well as common variants in at least …
UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes
C Rodriguez-Fontenla, A Carracedo - Translational psychiatry, 2021 - nature.com
Autism spectrum disorders (ASD) is a complex neurodevelopmental disorder that may
significantly impact on the affected individual's life. Common variation (SNPs) could explain …
significantly impact on the affected individual's life. Common variation (SNPs) could explain …
Understanding the impact of SNPs associated with autism spectrum disorder on biological pathways in the human fetal and adult cortex
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
significant and complex genetic etiology. GWAS studies have identified genetic variants …
significant and complex genetic etiology. GWAS studies have identified genetic variants …
Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong
genetic basis. Yet, only a small fraction of potentially causal genes—about 65 genes out of …
genetic basis. Yet, only a small fraction of potentially causal genes—about 65 genes out of …