Anne‐Marie Guerrot

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.