Brynjar Ö. Jensson

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

The sequences of 150,119 genomes in the UK biobank

The paper analyzes whole genome sequences of 150,119 UK Biobank individuals, identifying variants and associations with traits, and provides a haplotype reference panel for imputation.

Recurrence of de novo mutations in families

The paper identifies recurrent de novo mutations in sibling pairs and estimates their recurrence probabilities based on various factors.