Giulio Piluso

30PUBLICATIONS
133CO-AUTHORS
Gene mappingNeurology and neuromuscular diseasesPharmaceutical delivery technologiesEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (30)

|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

|Jun 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

|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

|Apr 08, 2025
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.

German Demidov, Steven Laurie, Annalaura Torella

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