Simona Coppola

7PUBLICATIONS
71CO-AUTHORS
AutoimmunityVision scienceEpigenetics (incl. genome methylation and epigenomics)Innate immunityMedical infection agents (incl. prions)
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Publications (7)

|Mar 14, 2026
A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

Emilia Stellacci, Lucia Ziccardi, Alessandro Bruselles

|Jan 08, 2026
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Valentina Muto, Giulia Fasano, Francesca Clementina Radio

|Apr 14, 2023
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Manuela Priolo, Erika Zara, Francesca Clementina Radio

|Oct 12, 2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

Michael T Lam, Simona Coppola, Oliver H F Krumbach

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