Denise Horn

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

M. Rieder, L. Peltonen, D. Altshuler, 2008, Nature Genetics.

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

D. Horn, S. Uhrig, B. Tüysüz, 2007, Clinical genetics.