Genetics

Identifying crossovers and shared genetic material in whole genome sequencing data from families.

Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.

Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels.

Large-scale whole genome sequence analysis of >22,000 subjects provides no evidence of FMR1 premutation allele involvement in autism spectrum disorder.

Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice.

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.

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