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  1. Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

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  2. Chromosome X-wide common variant association study in autism spectrum disorder.

    Publication

  3. Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes.

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  4. Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

    Publication

  5. The phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.

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  6. Three generation families: Analysis of de novo variants in autism.

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  7. ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

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  8. Genomic architecture of autism from comprehensive whole-genome sequence annotation.

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  9. Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

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  10. Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions.

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  11. Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions.

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  12. DNA methylation signature associated with Bohring-Opitz syndrome: A new tool for functional classification of variants in ASXL genes.

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  13. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.

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  14. Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

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  15. A recurrent SHANK3 frameshift variant in autism spectrum disorder.

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  16. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

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  17. An epigenetically distinct subset of children with autism spectrum disorder resulting from differences in blood cell composition.

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  18. Genome-wide detection of tandem DNA repeats that are expanded in autism.

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  19. Synaptic dysfunction in human neurons with autism-associated deletions in PTCHD1-AS.

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  20. Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.

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  21. A third linear association between Olduvai (DUF1220) copy number and severity of the classic symptoms of inherited autism.

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  22. SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons.

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  23. Paternally inherited cis-regulatory structural variants are associated with autism.

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

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  25. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

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  26. Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.

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  27. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

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  28. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

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  29. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.

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  30. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

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