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

    Publication

  2. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

    Publication

  3. Sharing parental genomes by siblings concordant or discordant for autism.

    Publication

  4. Rates of contributory de novo mutation in high and low-risk autism families.

    Publication

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

    Publication

  6. Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.

    Publication

  7. Damaging de novo mutations diminish motor skills in children on the autism spectrum.

    Publication

  8. Measuring shared variants in cohorts of discordant siblings with applications to autism.

    Publication

  9. De novo indels within introns contribute to ASD incidence.

    Publication

  10. Indel variant analysis of short-read sequencing data with Scalpel.

    Publication

  11. Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA.

    Publication

  12. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

    Publication

  13. Low load for disruptive mutations in autism genes and their biased transmission.

    Publication

  14. Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.

    Publication

  15. The contribution of de novo coding mutations to autism spectrum disorder.

    Publication

  16. Reducing indel calling errors in whole genome and exome sequencing data.

    Publication

  17. Accurate de novo and transmitted indel detection in exome-capture data using microassembly.

    Publication

  18. The role of de novo mutations in the genetics of autism spectrum disorders.

    Publication

  19. De novo gene disruptions in children on the autistic spectrum.

    Publication

  20. Rare de novo and transmitted copy-number variation in autistic spectrum disorders.

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  21. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.

    Publication