Stefano D'Arrigo
15PUBLICATIONS
92CO-AUTHORS
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Publications (15)
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|Oct 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri
|Sep 11, 2025
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.Fulvio D'Abrusco, Simone Gana, Enrico Alfei
|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 CHD3 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
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Frequent Collaborators
8 joint publications
Claudia Ciaccio
6 joint publications
Enza Maria Valente
4 joint publications
Romina Romaniello
4 joint publications
Enrico Silvio Bertini
3 joint publications
Valentina Serpieri
2 joint publications
Francesco Nicita
2 joint publications
Sara Nuovo
2 joint publications
Vincenzo Nigro
2 joint publications
Vincenzo Leuzzi
2 joint publications
Tommaso Mazza
