Domizia Pasquetti

5PUBLICATIONS
23CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsMedical biotechnology diagnostics (incl. biosensors)
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Publications (5)

|Jun 26, 2026
Reply to Small, K.W. Comment on "Spedicati et al. Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication. Biomedicines 2025, 13, 1904".

|Oct 29, 2025
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.

Beatrice Spedicati, Giulia Pianigiani, Aurora Santin

|Aug 28, 2025
Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication.

Beatrice Spedicati, Domizia Pasquetti, Aurora Santin

|Jan 25, 2025
Expanding the Molecular Spectrum of MMP21 Missense Variants: Clinical Insights and Literature Review.

Domizia Pasquetti, Paola Tesolin, Federica Perino

|Jan 11, 2024
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.

Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi

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Frequent Collaborators

4 joint publications

Beatrice Spedicati

4 joint publications

Giorgia Girotto

3 joint publications

Aurora Santin

2 joint publications

Elisa Paccagnella