Simons Simplex Collection

Mutational bias and the protein code shape the evolution of splicing enhancers.

MTSplice predicts effects of genetic variants on tissue-specific splicing.

Clustering by phenotype and genome-wide association study in autism.

A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia.

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders.

Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia.

Genome-wide detection of tandem DNA repeats that are expanded in autism.

DAS-II cognitive profiles are not diagnostically meaningful for autism: A ROC analysis.

Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders.

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