Gene‐based tests of association
Genetics
De novo gene disruptions in children on the autistic spectrum.
Common genetic variants, acting additively, are a major source of risk for autism.
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorder.
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Simons Variation in Individuals Project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
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