Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
Genetics
CNTNAP2 variants affect early language development in the general population.
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
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.
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