Cristina Peduto

5PUBLICATIONS
43CO-AUTHORS
NeurogeneticsApplied and developmental psychology not elsewhere classifiedNeurology and neuromuscular diseasesInfectious agentsNeonatology
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (5)

|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

|Jun 26, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Cristina Peduto, Gerarda Cappuccio, Roberta Zeuli

|Feb 25, 2023
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.

Cristina Peduto, Mariateresa Zanobio, Vincenzo Nigro

|Oct 08, 2022
Are SHROOM4 loss-of-function variants pathogenic?

Cristina Peduto, Giulio Piluso, Vincenzo Nigro

|Jul 25, 2022
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.

Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando

Pageof 1