Pasquale Di Letto

4PUBLICATIONS
42CO-AUTHORS
Gene mappingNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Neurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|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

|May 15, 2025
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).

Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio

|Mar 10, 2025
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.

Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman

Pageof 1