Francesca Clementina Radio

41PUBLICATIONS
276CO-AUTHORS
Gene mappingNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (41)

|Jun 26, 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

|Feb 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Jan 08, 2026
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Valentina Muto, Giulia Fasano, Francesca Clementina Radio

|Oct 29, 2025
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Cecilia Mancini, Luigi Chiriatti, Alessandro Bruselles

|Oct 11, 2025
Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.

Chloe Alexa McGhee, Julia R Plank, Luca Pannone

|Jul 29, 2025
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Davide Politano, Cecilia Mancini, Massimiliano Celario

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Frequent Collaborators

30 joint publications

Marco Tartaglia

9 joint publications

Marcello Niceta

6 joint publications

Andrea Ciolfi

5 joint publications

Stefano Giuseppe Caraffi