Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Genetics
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Modeling human disease in humans: The ciliopathies.
The conundrums of understanding genetic risks for autism spectrum disorders.
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.
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