Publication InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome.
Publication Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
Publication Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.
Publication Adaptation of a mitochondrial complex III assay for automation: examination of reproducibility and precision.
Publication The human genome project: opportunities, challenges and consequences for population screening.
Publication Clinical evaluation and emergency management of inborn errors of metabolism presenting in the newborn.
