Delphine Héron

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis

C. Depienne, E. Sherr, E. Blondiaux, 2023, Journal of medical genetics.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

A. Vanderver, Y. Crow, D. Lev, 2020, Human mutation.

Human Mutation

Andrew C. R. Martin, C. T. Porter, D. Lev, 2020 .

Maternal origin of a novel C‐terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome

J. Chelly, J. Nectoux, T. Bienvenu, 2006, Clinical genetics.