Margherita Scarpato
6PUBLICATIONS
196CO-AUTHORS
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Publications (6)
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|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|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
|Mar 10, 2025
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman
|Jan 29, 2025
A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.Margherita Scarpato, Francesco Testa, Anna Nesti
|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Dec 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.Marianthi Karali, Gema García-García, Karolina Kaminska
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Frequent Collaborators
3 joint publications
Carlo Rivolta
3 joint publications
Sandro Banfi
2 joint publications
Karolina Kaminska
2 joint publications
Francesca Cancellieri
2 joint publications
K Bailey Freund
2 joint publications
Lara K Holtes
2 joint publications
Suzanne E de Bruijn
2 joint publications
Roberta Zeuli
2 joint publications
José M Millán
2 joint publications
Kim Rodenburg
