Alessandro Bruselles

14PUBLICATIONS
88CO-AUTHORS
NeurogeneticsGene and molecular therapyVision scienceAnthropological geneticsOptical technology
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Publications (14)

|Jul 08, 2026
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

|Apr 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

|Mar 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Daniel Greene, Rodrigo Mendez, Jon Lees

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

Emilia Stellacci, Lucia Ziccardi, Alessandro Bruselles

|Sep 13, 2025
Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa.

Viviana Cordeddu, Elisabetta Flex, Luca Mignini

|Apr 17, 2025
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1.

Lucia Ziccardi, Lucilla Barbano, Mattia D'Andrea

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Frequent Collaborators

13 joint publications

Marco Tartaglia

5 joint publications

Marcello Niceta

5 joint publications

Francesca Clementina Radio

5 joint publications

Mattia Carvetta