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

    Publication

  2. Targeted de novo phasing and long-range assembly by template mutagenesis.

    Publication

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

    Publication

  4. G-graph: An interactive genomic graph viewer.

    Publication

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

    Publication

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

    Publication

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

    Publication

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

    Publication

  9. SMASH, a fragmentation and sequencing method for genomic copy number analysis.

    Publication

  10. Interactive analysis and assessment of single-cell copy-number variations.

    Publication

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

    Publication

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

    Publication

  13. Facilitated sequence counting and assembly by template mutagenesis.

    Publication

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

    Publication

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

    Publication

  16. Target inference from collections of genomic intervals.

    Publication

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

    Publication

  18. Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.

    Publication

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

    Publication

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

    Publication

  21. A unified genetic theory for sporadic and inherited autism.

    Publication

  22. Strong association of de novo copy number mutations with autism.

    Publication