Francesca Cancellieri
5PUBLICATIONS
163CO-AUTHORS
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Publications (5)
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|Apr 03, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz
|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Dec 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.Marianthi Karali, Gema García-García, Karolina Kaminska
|Mar 13, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.Virginie G Peter, Karolina Kaminska, Cristina Santos
|Oct 20, 2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.Neringa Jurkute, Francesca Cancellieri, Lisa Pohl
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Frequent Collaborators
5 joint publications
Carlo Rivolta
4 joint publications
Karolina Kaminska
2 joint publications
Mathieu Quinodoz
2 joint publications
Ana Berta Sousa
2 joint publications
Cristina Santos
2 joint publications
Katarina Stingl
2 joint publications
Omar A Mahroo
2 joint publications
Susanne Kohl
2 joint publications
Susanne Roosing
2 joint publications
Gavin Arno
