Diana Carli

44PUBLICATIONS
213CO-AUTHORS
NeurogeneticsMolecular targetsEpigenetics (incl. genome methylation and epigenomics)Photonics, optoelectronics and optical communicationsNeurology and neuromuscular diseases
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Publications (44)

|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.

|Jun 26, 2026
TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

|May 13, 2026
Alpelisib in PIK3CA-Related Overgrowth Spectrum (PROS): A Systematic Review of Real-World Evidence in over 100 Patients.

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

Andrea Gazzin, Marta Calvo, 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

Alessandro Mussa

13 joint publications

Simona Cardaropoli

13 joint publications

Andrea Gazzin

12 joint publications

Giovanni Battista Ferrero