Concepedia

Silvia Cattarossi

SC

Statistics

Publications

5

Citations

175

H-Index

5

Active since

2012

Affiliations

University of Udine(Current)

Fondazione IRCCS Istituto Neurologico Carlo Besta

Istituto Giannina Gaslini

University of Catania

Federico II University Hospital

Silvia Cattarossi is an author at University of Udine specializing in mutation analysis, molecular genetics, and genetic disorders.

Publications per year

2012–2021

5

Publications

5

GBA Analysis in Next-Generation Era

Stefania Zampieri, Silvia Cattarossi, Bruno Bembi et al. · Journal of Molecular Diagnostics · 2017 · 64 citations · Full text

Engineering, Computer Engineering, Computer Science +6

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

Andrea Dardis, Stefania Zampieri, Cinzia Gellera et al. · Journal of Clinical Medicine · 2020 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Stefania Zampieri, Silvia Cattarossi, Ana María Oller Ramírez et al. · PLoS ONE · 2012 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Catia Mio, Adriana Cifù, Stefania Marzinotto et al. · Disease Markers · 2020 · 28 citations · Full text

Medicine, Infectious Diseases, Molecular Biology +17

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

Stefania Zampieri, Silvia Cattarossi, Eleonora Pavan et al. · International Journal of Molecular Sciences · 2021 · 10 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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