Genetics

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Postmortem cardiac tissue maintains gene expression profile even after late harvesting.

High‐throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism

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.

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