Marco Castori

21PUBLICATIONS
51CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Cardiology (incl. cardiovascular diseases)Gene mappingMolecular targets
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Publications (21)

|Aug 13, 2026
Rare AFG3L2 and POLG Variants Suggest a Role for Mitochondrial Dysfunction in Enteric Neuronal Vulnerability in Idiopathic Achalasia.

|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 30, 2025
Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders.

Marco Castori, Sandra Mastroianno, Andrea Fontana

|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

|Dec 12, 2024
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

Lucia Micale, Aikaterini Vourlia, Carmela Fusco

|Jul 27, 2024
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.

Vera Uliana, Enrico Ambrosini, Antonietta Taiani

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Frequent Collaborators

7 joint publications

Carmela Fusco

6 joint publications

Marco Castori

4 joint publications

Orazio Palumbo

3 joint publications

Emanuele Agolini