Mario Benvenuto

5PUBLICATIONS
26CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesGene mappingInnate immunityEpigenetics (incl. genome methylation and epigenomics)
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Publications (5)

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

|Aug 29, 2024
The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.

Giorgia Dinoi, Elena Conte, Orazio Palumbo

|Apr 27, 2024
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.

Mario Benvenuto, Sofia Cesarini, Giulia Severi

|Apr 04, 2024
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.

Martina Esposito, Francesca Minnai, Massimiliano Copetti

|Oct 28, 2023
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.

Mario Benvenuto, Pietro Palumbo, Ester Di Muro

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Frequent Collaborators

4 joint publications

Pietro Palumbo

4 joint publications

Orazio Palumbo

4 joint publications

Massimo Carella

2 joint publications

Ester Di Muro