Genetics

Copy number variants in people with autism spectrum disorders and co-morbid psychosis.

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.

Recurrent de novo mutations in neurodevelopmental disorders: Properties and clinical implications.

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability and autism.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

NetSig: Network-based discovery from cancer genomes.

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Indexcov: fast coverage quality control for whole-genome sequencing.

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

Genomic patterns of de novo mutation in simplex autism.

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