Identification of novel genes implicated in Charcot-Marie- Tooth neuropathies using next generation whole genome sequencing.
Unravelling the molecular architecture of epilepsies by applying high-throughput sequencing technologies and functional assays on recessive kinships from isolated populations.
Large scale genetic approach for the molecular characterization of autosomalrecessive Charcot-Marie-Tooth disease.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14