Maria Iascone

38PUBLICATIONS
320CO-AUTHORS
NanomanufacturingEpigenetics (incl. genome methylation and epigenomics)Cancer geneticsNeurology and neuromuscular diseasesElectronic and magnetic properties of condensed matter; superconductivity
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Publications (38)

|Sep 08, 2026
Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

|Aug 27, 2026
Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.

|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

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Frequent Collaborators

6 joint publications

Maria Francesca Bedeschi

4 joint publications

Laura Pezzoli

3 joint publications

Angela Peron

3 joint publications

Antonio Novelli