Patrick Rump

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

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 paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.

The paper identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.

This study identifies 10 novel candidate genes for intellectual disability through a meta-analysis of de novo mutations from 2,104 trios.