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  1. Transcriptomic convergence and the female protective effect in autism.

    Publication

  2. Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.

    Publication

  3. Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain.

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  4. Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.

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  5. Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.

    Publication

  6. Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.

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  7. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.

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  8. Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.

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  9. Glial dysregulation in human brain in fragile X-related disorders.

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  10. Somatic mutations reveal hypermutable brains and are associated with neuropsychiatric disorders.

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  11. Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder.

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  12. Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.

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  13. MIPP-Seq: Ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.

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  14. Whole-genome analysis of de novo and polymorphic retrotransposon insertions in autism spectrum disorder.

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  15. Large mosaic copy number variations confer autism risk.

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  16. The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.

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  17. Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids.

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  18. Homozygous deletions implicate non-coding epigenetic marks in autism spectrum disorder.

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  19. Parallel RNA and DNA analysis after deep-sequencing (PRDD-seq) reveals cell type specific lineage patterns in human brain.

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  20. Recessive gene disruptions in autism spectrum disorder.

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  21. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

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  22. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

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  23. Mutations in human accelerated regions disrupt cognition and social behavior.

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  24. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci.

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  25. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

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  26. CC2D1A regulates human intellectual and social function as well as NF-kappaB signaling homeostasis.

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  27. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

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  28. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.

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  29. Using whole-exome sequencing to identify inherited causes of autism.

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  30. Common genetic variants, acting additively, are a major source of risk for autism.

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  31. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

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  32. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

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  33. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

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  34. Allelic diversity in human developmental neurogenetics: insights into biology and disease.

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  35. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

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  36. Clinical genetic testing for patients with autism spectrum disorders.

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  37. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

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  38. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

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  39. Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.

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  40. Autism and brain development.

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  41. Identifying autism loci and genes by tracing recent shared ancestry.

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  42. Association between microdeletion and microduplication at 16p11.2 and autism.

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  43. Brain evolution and uniqueness in the human genome.

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