Emilia Stellacci
8PUBLICATIONS
24CO-AUTHORS
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Publications (8)
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|Mar 14, 2026
A Novel Heterozygous <i>ARL3</i> Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.Emilia Stellacci, Lucia Ziccardi, Alessandro Bruselles
|Apr 17, 2025
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in <i>POMGNT1</i>.Lucia Ziccardi, Lucilla Barbano, Mattia D'Andrea
|Aug 10, 2024
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of <i>BBS9</i>.Emilia Stellacci, Marcello Niceta, Alessandro Bruselles
|Dec 11, 2022
Biallelic Inactivating <i>TUB</i> Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.Lucia Ziccardi, Marcello Niceta, Emilia Stellacci
|Oct 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndrome.Marcello Niceta, Domenico Barbuti, Neerja Gupta
|Aug 27, 2019
The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.Emilia Stellacci, Gian M Moneta, Alessandro Bruselles
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Frequent Collaborators
5 joint publications
Marcello Niceta
4 joint publications
Marco Tartaglia
4 joint publications
Lucia Ziccardi
4 joint publications
Alessandro Bruselles
3 joint publications
Mattia Carvetta
3 joint publications
Serena Cecchetti
2 joint publications
Sabina Barresi
2 joint publications
Carmen Dell'Aquila
1 joint publications
Simona Coppola
1 joint publications
Irene Valenzuela
