Simons Simplex Collection

The phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.

Repetitive and restricted behaviors and interests in autism spectrum disorder: relation to individual characteristics and mental health problems.

Demographic factors relate to autism diagnostic certainty: Implications for enhancing equitable diagnosis among youth.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Cell type-specific interpretation of noncoding variants using deep learning-based methods.

Copy number variation and structural genomic findings in 116 cases of sudden unexplained death between 1 and 28 months of age.

Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs.

The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI.

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

Interactions of genetic risks for autism and the broad autism phenotypes.

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