Antonino Musumeci

20PUBLICATIONS
30CO-AUTHORS
Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Infant and child healthCraniofacial biologyGene expression (incl. microarray and other genome-wide approaches)
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Publications (20)

|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

|Aug 14, 2025
ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant.

Francesco Calì, Miriam Virgillito, Simone Treccarichi

|Jul 30, 2025
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.

Vittoria Greco, Donatella Greco, Simone Treccarichi

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Frequent Collaborators

19 joint publications

Francesco Calì

18 joint publications

Salvatore Saccone

16 joint publications

Simone Treccarichi

14 joint publications

Mirella Vinci