Alessandro Mussa

36PUBLICATIONS
112CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsMolecular targetsNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Publications (36)

|Aug 25, 2026
Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

|Jul 08, 2026
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

|Jul 08, 2026
Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

|Jan 08, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Andrea Gazzin, Marta Calvo, Federico Rondot

|Dec 15, 2025
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.

Giuseppe Reynolds, Ilaria Carelli, Federico Rondot

|Oct 29, 2025
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

Verdiana Pullano, Federico Rondot, Ilaria Carelli

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Frequent Collaborators

20 joint publications

Diana Carli

12 joint publications

Andrea Gazzin

10 joint publications

Simona Cardaropoli

9 joint publications

Giovanni Battista Ferrero