Genetics

Challenges in screening for de novo noncoding variants contributing to genetically complex phenotypes.

Generation of DNA methylation signatures and classification of variants in rare neurodevelopmental disorders using epigencentral.

Transcriptional diversity in synaptic gene sets is sufficient to discriminate cortical neuronal identity.

Deficits in integrative NMDA receptors caused by Grin1 disruption can be rescued in adulthood.

GIGYF1 disruption associates with autism and impaired IGF-1R signaling.

A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years.

Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer.

Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders.

High body mass polygenic risk in mothers enhances de novo functional mutations in epigenetic and microtubule gene pathways in their offspring with autism spectrum disorder.

Focus on your locus with a massively parallel reporter assay.

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