Laura Pezzoli

7PUBLICATIONS
44CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Medical biotechnology diagnostics (incl. biosensors)Respiratory diseasesCardiology (incl. cardiovascular diseases)
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Publications (7)

|Sep 26, 2026
From Misdiagnosis to Discovery: Expanding the Spectrum of Spliceosomopathies.

|Aug 27, 2026
Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.

|Jan 28, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

Alessia Carrer, Francesco Maria Crupano, Berardo Rinaldi

|Nov 27, 2024
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Camilla Meossi, Alessia Carrer, Claudia Ciaccio

|Jun 27, 2024
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.

Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta

|Feb 11, 2023
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.

Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini

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Frequent Collaborators

4 joint publications

Donatella Milani

4 joint publications

Maria Iascone

3 joint publications

Federica Natacci

2 joint publications

Alessia Carrer