Rita Selvatici

9PUBLICATIONS
109CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeonatologyIberian languagesGene mappingOrganic chemistry not elsewhere classified
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Publications (9)

|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.

|Jun 26, 2026
Chung-Jansen Syndrome in a Young Woman with a PHIP Variant: Severe Obesity, Intellectual Disability, and Endocrine Abnormalities.

|Oct 29, 2025
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Fernanda Fortunato, Laura Fiocco, Alice Margutti

|May 28, 2025
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.

Martina Mietto, Silvia Montanari, Maria Sofia Falzarano

|Jan 25, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Rita Selvatici, Valentina Guida, Massimo Maffei

|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Wouter Steyaert, Lydia Sagath, German Demidov

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Frequent Collaborators

6 joint publications

Alessandra Ferlini

4 joint publications

Francesca Gualandi

3 joint publications

Alice Margutti

2 joint publications

Cristina Balla