Simons Simplex Collection

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Tissue-specific enhancer functional networks for associating distal regulatory regions to disease.

A multiplex human pluripotent stem cell platform defines molecular and functional subclasses of autism-related genes.

N-terminal variant Asp14Asn of the human p70 S6 Kinase 1 enhances translational signaling causing different effects in developing and mature neuronal cells.

Whole-genome analysis of de novo and polymorphic retrotransposon insertions in autism spectrum disorder.

NeuroSCORE: A genome-wide omics-based model to identify candidate disease genes of the central nervous system.

Phenotypic effects of genetic variants associated with autism.

Effect sizes of deletions and duplications on autism risk across the genome.

Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution.

Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans.

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