ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Genetics
VBASS enables integration of single cell gene expression data in Bayesian association analysis of rare variants.
Discovery of autism/intellectual disability somatic mutations in Alzheimer’s brains: mutated ADNP cytoskeletal impairments and repair as a case study
Sharing parental genomes by siblings concordant or discordant for autism.
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Environmental adversity moderates polygenic score effects on childhood behavioral problems in the United States.
Benchmarking of local genetic correlation estimation methods using summary statistics from genome-wide association studies
Three generation families: Analysis of de novo variants in autism.
Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.
Structural and functional brain alterations revealed by neuroimaging in CNV carriers.
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