Frances Elmslie

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.

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%.