Silvia Genovesea

13PUBLICATIONS
36CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Haematological tumoursDevelopmental genetics (incl. sex determination)NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)
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Publications (13)

|Jul 13, 2026
Utility of Optical Genome Mapping in the Characterisation of the Global Genomic Architecture of Paediatric Central Nervous System Tumours: A Pilot Study.

|Jan 06, 2026
Melanomas and Mesenchymal Tumors Arising in Giant Congenital Melanocytic Nevi: Clinico-Pathological and Molecular Characterization of a Case Series.

Sabrina Rossi, Sabina Barresi, Isabella Giovannoni

|Nov 26, 2025
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.

Vito Luigi Colona, Maria Gnazzo, Silvia Genovese

|Nov 27, 2024
Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics.

Maria Gnazzo, Giovanni Parlapiano, Francesca Di Lorenzo

|Jul 13, 2024
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.

Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovese

|Mar 03, 2022
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.

Giorgia Catino, Silvia Genovese, Silvia Di Tommaso

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Frequent Collaborators

6 joint publications

Viola Alesi

5 joint publications

Sara Loddo

5 joint publications

Maria Lisa Dentici

5 joint publications

Antonio Novelli