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7PUBLICATIONS
81CO-AUTHORS
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Publications (7)
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|Nov 27, 2025
Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.Raffaele Falsaperla, Eliana Salvo, Annamaria Sapuppo
|Jan 08, 2025
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.Pinella Failla, Lucia Saccuzzo, Ornella Galesi
|Sep 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina
|Feb 25, 2023
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting.Federica Saia, Adriana Prato, Lucia Saccuzzo
|Feb 22, 2023
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.Martina Miceli, Pinella Failla, Lucia Saccuzzo
|Jan 27, 2019
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.Elena Cellini, Annalisa Vetro, Valerio Conti
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Frequent Collaborators
3 joint publications
Corrado Romano
2 joint publications
Ornella Galesi
2 joint publications
Maria Clara Bonaglia
1 joint publications
Elena Cellini
1 joint publications
Annalisa Vetro
1 joint publications
Valerio Conti
1 joint publications
Carla Marini
1 joint publications
Elena Parrini
1 joint publications
Sabrina Giglio
1 joint publications
Matteo Della Monica
