Simons Simplex Collection

Diagnostic classification and prognostic prediction using common genetic variants in autism spectrum disorder: Genotype-based deep learning.

CNVxplorer: A web tool to assist clinical interpretation of CNVs in rare disease patients.

Autism spectrum disorders classification using genotype data: A deep learning-based predictive classifier.

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.

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