Claudia Ciaccio

14PUBLICATIONS
79CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Anthropological geneticsInfant and child healthNeonatology
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Publications (14)

|Oct 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical Phenotypes.

Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri

|Nov 27, 2024
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Camilla Meossi, Alessia Carrer, Claudia Ciaccio

|Jun 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

Camilla Sarli, Liselot van der Laan, Jack Reilly

|Sep 28, 2023
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review.

Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot

|May 16, 2023
Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm.

Silvia Maria Marchese, Roberto Esposti, Veronica Farinelli

|Apr 24, 2023
Neurologic, Neuropsychologic, and Neuroradiologic Features of <i>EBF3</i>-Related Syndrome.

Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli

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Frequent Collaborators

8 joint publications

Stefano D'Arrigo

5 joint publications

Chiara Pantaleoni

3 joint publications

Donatella Milani

2 joint publications

Nicola Brunetti-Pierri