Ruth O. Braden

This study identifies 18 high-confidence genetic variants in 26% of childhood apraxia of speech cases, expanding the list of candidate genes and highlighting shared pathways with other neurodevelopmental disorders.

This study characterizes 29 individuals with FOXP2 variants, showing high prevalence of speech disorders and language impairments, with relatively specific phenotypes compared to other monogenic conditions.

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