Orazio Palumbo

38PUBLICATIONS
95CO-AUTHORS
Gene mappingCell and nuclear divisionNeurogeneticsNeurology and neuromuscular diseasesOptical technology
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Publications (38)

|Jun 26, 2026
Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.

|Jun 15, 2026
Clinical Variability Including Non-Dilated Left Ventricular and Dilated Cardiomyopathy in a Pedigree With an Intragenic CTNNA3 Copy Number Variation.

|May 04, 2026
A 350 kb NEXMIF Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome.

|Feb 20, 2026
Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.

Orazio Palumbo, Umberto Costantino, Mario Benvenuto

|Nov 27, 2025
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.

Ludovico Graziani, Miriam Lucia Carriero, Salvatore Melchionda

|Sep 22, 2025
The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.

Mario Benvenuto, Marilena Carmela Di Giacomo, Ada Piepoli

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Frequent Collaborators

17 joint publications

Pietro Palumbo

13 joint publications

Massimo Carella

7 joint publications

Marco Castori

4 joint publications

Tommaso Mazza