Resources

Read our publications and check eVai citacions

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene
- Taha I, De Paoli F, Foroni S, Zucca S, Limongelli I, Cipolli M, Danesino C, Ramenghi U, Minelli A
Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer’s Disease and Lewy Body Dementia
- Palmieri, I., Poloni, T. E., Medici, V., Zucca, S., Davin, A., Pansarasa, O., Ceroni, M., Tronconi, L., Guaita, A., Gagliardi, S., & Cereda, C.
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
- Nicora G, Zucca S, Limongelli I, Bellazzi R & Magni P
An automatic implementation of ACMG/ClinGen guidelines for constitutional Copy Number Variants annotation and interpretation
- De Paoli F, Limongelli I, Rizzo E, Nicora G, Magni P.
A comparison of eVai, CADD and VVP variant prediction results on the ICR639 hereditary cancer dataset
- Nicora G, Limongelli I, Zucca S, Santolisier R, Magni P, Bellazzi R.
CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases
- Nicora G, Limongelli I, Gambelli P, Memmi M, Malovini A, Mazzanti A, Napolitano C, Priori S, Bellazzi R.
Variant interpretation supporting genetic diagnosis in exome sequencing NGS data: eVai clinical validation
- S. Zucca, I. Limongelli, M. Valente, A. Asaro, J. Garau, I. Palmieri, R. Bellazzi, C. Cereda.