Simona Cardaropoli

18PUBLICATIONS
87CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)NanomedicinePhotonics, optoelectronics and optical communicationsNeurology and neuromuscular diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (18)

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

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

|Jun 26, 2026
PPP1CB-Related Noonan Syndrome with Loose Anagen Hair: A Systematic Review.

|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

Pageof 3

Frequent Collaborators

13 joint publications

Diana Carli

10 joint publications

Alessandro Mussa

8 joint publications

Giuseppe Reynolds

6 joint publications

Giovanni Battista Ferrero