Genetics

High resolution measurement of DUF1220 domain copy number from whole genome sequence data.

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Disentangling polygenic associations between attention-deficit/hyperactivity disorder, educational attainment, literacy and language.

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.

Genetic analysis of very obese children with autism spectrum disorder.

A unified genetic theory for sporadic and inherited autism.

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.

Damaging de novo mutations diminish motor skills in children on the autism spectrum.

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

MVP: Predicting pathogenicity of missense variants by deep neural networks.

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