Marco Fabiani
23PUBLICATIONS
63CO-AUTHORS
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Publications (23)
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|Dec 30, 2025
Neurodevelopmental Phenotype Associated with TRIP12: Report of a Family Carrying the p.Asp1135Val Variant.Katia Margiotti, Marco Fabiani, Antonella Cima
|Dec 08, 2025
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations.Silvia Caroselli, Giulia Corona, Marco Fabiani
|Jun 13, 2025
Genome-Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review.Mario Mastrangelo, Simona Petrucci, Giuliana Lentini
|May 31, 2025
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.Marco Fabiani, Caterina Micolonghi, Silvia Caroselli
|Dec 18, 2024
Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).Marco Fabiani, Katia Margiotti, Francesco Libotte
|Nov 27, 2024
Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.Katia Margiotti, Marco Fabiani, Antonella Cima
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Frequent Collaborators
9 joint publications
Katia Margiotti
8 joint publications
Maria Piane
6 joint publications
Caterina Micolonghi
5 joint publications
Vincenzo Visco
5 joint publications
Aldo Germani
3 joint publications
Speranza Rubattu
3 joint publications
Silvia Caroselli
3 joint publications
Giacomo Tini
2 joint publications
Giovanna De Chiara
2 joint publications
Maria Elena Marcocci
