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  1. Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

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  2. Phenotype and genetic analysis of data collected within the first year of NeuroDev.

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  3. Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

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  4. CHD8 suppression impacts on histone h3 lysine 36 trimethylation and alters rna alternative splicing.

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  5. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.

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  6. Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.

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

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  8. Developmental variability in autism across 17000 autistic individuals and 4000 siblings without an autism diagnosis: Comparisons by cohort, intellectual disability, genetic etiology, and age at diagnosis.

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

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  10. GATK-gCNV: A rare copy number variant discovery algorithm and its application to exome sequencing in the UK Biobank.

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  11. Convergent coexpression of autism associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies.

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  12. A cross-disorder dosage sensitivity map of the human genome.

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  13. 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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  14. The female protective effect against autism spectrum disorder.

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  15. Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders.

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

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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. New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders.

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  19. A structural variation reference for medical and population genetics.

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

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

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  22. Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.

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

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  24. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

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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. Indexcov: fast coverage quality control for whole-genome sequencing.

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

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  28. CNView: a visualization and annotation tool for copy number variation from whole-genome sequencing.

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  29. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

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

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

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  32. A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology.

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  33. Loss of delta-catenin function in severe autism.

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  34. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

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  35. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

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  36. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

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  37. Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

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  38. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

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  39. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

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  40. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.

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