Antonino Musumeci

22PUBLICATIONS
34CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Infant and child healthCraniofacial biology
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (22)

|Aug 27, 2026
RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome.

|Aug 27, 2026
Deciphering the Role of LNX2 as a Potential Contributor to Neurodevelopmental Disorders.

|May 13, 2026
A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing.

|Apr 14, 2026
Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.

Simone Treccarichi, Mirella Vinci, Miriam Virgillito

|Feb 13, 2026
Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders.

Francesco Calì, Simone Treccarichi, Mirella Vinci

|Nov 13, 2025
Dissecting the Genetic Contribution of Tooth Agenesis.

Antonio Fallea, Mirella Vinci, Simona L'Episcopo

Pageof 4

Frequent Collaborators

21 joint publications

Francesco Calì

19 joint publications

Salvatore Saccone

18 joint publications

Simone Treccarichi

16 joint publications

Mirella Vinci