Genetics

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.

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

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Cell type-specific interpretation of noncoding variants using deep learning-based methods.

Copy number variation and structural genomic findings in 116 cases of sudden unexplained death between 1 and 28 months of age.

Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion.

Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs.

Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.

Large-scale metagenomic analysis of oral microbiomes reveals markers for autism spectrum disorders.

Estimation of direct and indirect polygenic effects and gene-environment interactions using polygenic scores in case-parent trio studies.

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