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  1. CRISPR activation for SCN2A-related neurodevelopmental disorders.

    Publication

  2. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

    Publication

  3. CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.

    Publication

  4. Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of genetic variants in vivo.

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  5. Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders.

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  6. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

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  7. The female protective effect against autism spectrum disorder.

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  8. Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites.

    Publication

  9. CRISPR activation rescues abnormalities in SCN2A haploinsufficiency-associated autism spectrum disorder.

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  10. Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.

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  11. Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse neocortex.

    Publication

  12. Paradoxical hyperexcitability from NAV1.2 sodium channel loss in neocortical pyramidal cells.

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  13. Prevalence of returnable genetic results based on recognizable phenotypes among children with autism spectrum disorder.

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  14. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.

    Publication

  15. Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers.

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  16. Clinical impact of splicing in neurodevelopmental disorders.

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  17. Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex.

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  18. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism.

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  19. The autism-associated gene Scn2a contributes to dendritic excitability and synaptic function in the prefrontal cortex.

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  20. Next-Generation Sequencing in Autism Spectrum Disorder.

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  21. Predicting splicing from primary sequence with deep learning.

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  22. Integrative functional genomic analysis of human brain development and neuropsychiatric risks.

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  23. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.

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  24. Progress in understanding and treating SCN2A-mediated disorders.

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  25. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

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  26. DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/beta-catenin signaling.

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  27. Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection.

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  28. Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

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  29. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

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  30. Opposing effects on Nav1.2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures.

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  31. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

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  32. Identification of developmental and behavioral markers associated with genetic abnormalities in autism spectrum disorder.

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  33. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

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

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  35. Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.

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  36. Frequency and complexity of de novo structural mutation in autism.

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

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

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  39. First glimpses of the neurobiology of autism spectrum disorder.

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  40. Paired-duplication signatures mark cryptic inversions and other complex structural variation.

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  41. The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.

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  42. 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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  43. Loss of delta-catenin function in severe autism.

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  44. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.

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  45. Genotype to phenotype relationships in autism spectrum disorders.

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  46. No evidence for association of autism with rare heterozygous point mutations in contactin-associated protein-like 2 (CNTNAP2), or in other contactin-associated proteins or contactins.

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

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  48. De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.

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