Genetics

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Cellular and synaptic network defects in autism.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts.

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.

Using whole-exome sequencing to identify inherited causes of autism.

De novo mutations in histone-modifying genes in congenital heart disease.

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells.

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