Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk
We present the largest exome sequencing study to date focused on rare variation in autism
spectrum disorder (ASD)(n= 35,584). Integrating de novo and case-control variation with an …
spectrum disorder (ASD)(n= 35,584). Integrating de novo and case-control variation with an …
[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families
Genomic studies to date in autism spectrum disorder (ASD) have largely focused on newly
arising mutations that disrupt protein coding sequence and strongly influence risk. We …
arising mutations that disrupt protein coding sequence and strongly influence risk. We …
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 …
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Background We previously performed targeted sequencing of autism risk genes in probands
from the Autism Clinical and Genetic Resources in China (ACGC)(phase I). Here, we …
from the Autism Clinical and Genetic Resources in China (ACGC)(phase I). Here, we …
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants
Background Autism spectrum disorder (ASD) is highly heritable, yet genome-wide
association studies (GWAS), copy number variation screens, and candidate gene …
association studies (GWAS), copy number variation screens, and candidate gene …
Recent advances in the genetics of autism spectrum disorder
S De Rubeis, JD Buxbaum - Current neurology and neuroscience reports, 2015 - Springer
Autism spectrum disorder (ASD) is a devastating neurodevelopmental disorder with high
prevalence in the population and a pronounced male preponderance. ASD has a strong …
prevalence in the population and a pronounced male preponderance. ASD has a strong …
Characterization of de novo promoter variants in autism spectrum disorder with massively parallel reporter assays
Autism spectrum disorder (ASD) is a common, complex, and highly heritable condition with
contributions from both common and rare genetic variations. While disruptive, rare variants …
contributions from both common and rare genetic variations. While disruptive, rare variants …
Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism
Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous
neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown …
neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown …
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 …