Silvia Cattarossi

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

R. Carrozzo, C. Gellera, B. Borroni, 2020, Journal of clinical medicine.

GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.

B. Bembi, A. Dardis, S. Zampieri, 2017, The Journal of molecular diagnostics : JMD.

Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease

B. Bembi, B. Grassi, D. Salvadego, 2017, Neuromuscular Disorders.

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

M. Scarpa, A. Dardis, A. Fiumara, 2021, International Journal of Molecular Sciences.

A Streamlined Approach to Rapidly Detect SARS-CoV-2 Infection Avoiding RNA Extraction: Workflow Validation

C. Schneider, R. Verardo, N. Bergamin, 2020, Disease markers.

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

G. Uziel, C. Rosano, B. Bembi, 2012, PloS one.