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Marco Fichera

7PUBLICATIONS

81CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)NeurogeneticsNeurology and neuromuscular diseases

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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

Frequent Collaborators

3 joint publications

Corrado Romano

2 joint publications

Ornella Galesi

2 joint publications

Maria Clara Bonaglia

1 joint publications

Elena Cellini

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