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

    Publication

  2. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 copy number variations.

    Publication

  3. The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism individuals.

    Publication

  4. Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus.

    Publication

  5. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

    Publication

  6. Quantifying the effects of 16p11.2 copy number variants on brain structure: A multisite genetic-first study.

    Publication

  7. The immune signaling adaptor LAT contributes to the neuroanatomical phenotype of 16p11.2 BP2-BP3 CNVs.

    Publication

  8. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

    Publication

  9. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

    Publication

  10. The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition.

    Publication

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

    Publication

  12. 16p11.2 locus modulates response to satiety before the onset of obesity.

    Publication

  13. Reciprocal effects on neurocognitive and metabolic phenotypes in mouse models of 16p11.2 deletion and duplication syndromes.

    Publication

  14. Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities.

    Publication

  15. Copy number variations and cognitive phenotypes in unselected populations.

    Publication

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

    Publication

  17. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.

    Publication

  18. 16p11.2 600 kb duplications confer risk for typical and atypical rolandic epilepsy.

    Publication

  19. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

    Publication

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

    Publication

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

    Publication