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

    Publication

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

    Publication

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

    Publication

  4. Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes.

    Publication

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

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

    Publication

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

    Publication

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

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

    Publication

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

    Publication

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

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

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

    Publication

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

    Publication

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

    Publication

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

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

    Publication

  20. Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.

    Publication

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

    Publication

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

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

    Publication