Nicola C. Foulds

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.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.