Marco Castori

27PUBLICATIONS
56CO-AUTHORS
Cell and nuclear divisionNeurology and neuromuscular diseasesCancer geneticsMolecular and organic electronicsGene expression (incl. microarray and other genome-wide approaches)
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Publications (27)

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

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

Orazio Palumbo, Umberto Costantino, Mario Benvenuto

|Sep 22, 2025
A novel missense variant of the calcium-sensing receptor gene associated with familial hypocalciuric hypercalcemia.

Martina Laganà, Anna Maria Grieco, Vito Guarnieri

|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

|Aug 13, 2025
Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

Mario Benvenuto, Dora Varvara, Massimo Carella

|Apr 10, 2025
Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome.

Federica Russo, Cecilia Daolio, Ester Di Muro

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Frequent Collaborators

7 joint publications

Orazio Palumbo

6 joint publications

Lucia Micale

4 joint publications

Carmela Fusco

4 joint publications

Pietro Palumbo