G. Esposito

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

G. Comi, C. Angelini, C. Bruno, 2018, Neuromuscular Disorders.

The genetic basis of undiagnosed muscular dystrophies and myopathies

G. Comi, E. Bertini, E. Mercuri, 2016, Neurology.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

L. Wilkins, G. Comi, E. Bertini, 2016, Neurology.

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

Michele Pinelli, Margherita Mutarelli, Francesco Musacchia, 2018, BMC Bioinformatics.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

G. Comi, C. Angelini, C. Bruno, 2018, Neuromuscular Disorders.