CNView: a visualization and annotation tool for copy number variation from whole-genome sequencing.
Genetics
De novo indels within introns contribute to ASD incidence.
Mapping 22q11.2 gene dosage effects on brain morphometry.
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
Indel variant analysis of short-read sequencing data with Scalpel.
SMASH, a fragmentation and sequencing method for genomic copy number analysis.
A rapid chemical-genetic screen utilizing impaired movement phenotypes in C. elegans: Input into genetics of neurodevelopmental disorders.
Hyperactivity and male-specific sleep deficits in the 16p11.2 deletion mouse model of autism.
Strong association of de novo copy number mutations with autism.
Brain evolution and uniqueness in the human genome.
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