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)

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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.

|Jun 26, 2026

<i>TRAPPC9</i>-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 <i>SATB2</i>-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

12 joint publications

Alfredo Brusco

11 joint publications

Marco Tartaglia

Giuseppe Reynolds

Lisa Pavinato

Nicoletta Resta

Chiara Leoni

Frequent Collaborators

20 joint publications

Alessandro Mussa

13 joint publications

Simona Cardaropoli

13 joint publications

Andrea Gazzin

12 joint publications

Giovanni Battista Ferrero