Maria Iascone

36PUBLICATIONS

294CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Cancer geneticsNeurology and neuromuscular diseasesElectronic and magnetic properties of condensed matter; superconductivityNeonatology

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Publications (36)

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|Jul 08, 2026

Variant Site-Specific Natural History of Titin-Induced Cardiomyopathy: An International Multicenter Registry.

|May 03, 2026

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

|Apr 01, 2026

Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum.

Fabio Bruschi, Clara E Antonello, Cecilia Parazzini

|Mar 09, 2026

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence.

Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi

|Feb 13, 2026

Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.

Paola Francesca Ajmone, Claudia Rigamonti, Francesca Brasca

|Nov 02, 2025

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.

Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi

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Frequent Collaborators

6 joint publications

Maria Francesca Bedeschi

Angela Peron

Antonio Novelli

Laura Pezzoli

Berardo Rinaldi

Francesca Clementina Radio

Benedetta Beltrami

Marco Tartaglia

Vincent Michaud

Donatella Milani

Frequent Collaborators

6 joint publications

Maria Francesca Bedeschi

3 joint publications

Angela Peron

3 joint publications

Antonio Novelli

3 joint publications

Laura Pezzoli