Gioia Mastromoro

21PUBLICATIONS
36CO-AUTHORS
Respiratory diseasesNeurogeneticsHaematologyNeonatologyEpigenetics (incl. genome methylation and epigenomics)
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Publications (21)

|Jul 28, 2026
Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review.

|Sep 27, 2025
NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature.

Gioia Mastromoro, Claudio Dello Russo, Stefania Mariani

|Jul 28, 2025
Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.

Gioia Mastromoro, Alice Traversa, Daniele Guadagnolo

|Feb 26, 2025
Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review.

Gioia Mastromoro, Daniele Guadagnolo, Alessandro De Luca

|Jan 26, 2025
Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?

Gioia Mastromoro, Daniele Guadagnolo, Francesca Gianno

|Dec 23, 2023
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.

Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres

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Frequent Collaborators

6 joint publications

Enrica Marchionni

5 joint publications

Daniele Guadagnolo

4 joint publications

Gerardo Piacentini

4 joint publications

Laura Bernardini