Genetics

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

Genome-wide expression assay comparison across frozen and fixed postmortem brain tissue samples.

Genetics of autism spectrum disorders.

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.

Gene‐based tests of association

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.

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