Simons Simplex Collection

Estimating genetic nurture with summary statistics of multi-generational genome-wide association studies.

Family history of eating disorder and the broad autism phenotype in autism.

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families.

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.

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