Alessandro Mussa

35PUBLICATIONS

110CO-AUTHORS

NeurogeneticsMolecular targetsNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)

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Publications (35)

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|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 <i>SATB2</i>-Associated Syndrome.

Verdiana Pullano, Federico Rondot, Ilaria Carelli

|Oct 07, 2025

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.

Iacopo Bellani, Valentina Trevisan, Germana Viscogliosi

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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

Nicoletta Resta

Chiara Leoni

Giuseppe Reynolds

Marco Tartaglia

Jennifer M Kalish

Silvia Kalantari

Frequent Collaborators

20 joint publications

Diana Carli

12 joint publications

Andrea Gazzin

10 joint publications

Simona Cardaropoli

9 joint publications

Giovanni Battista Ferrero