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Francesca Cancellieri

5PUBLICATIONS
163CO-AUTHORS
Genetic immunologyNeurology and neuromuscular diseasesGene mappingEpigenetics (incl. genome methylation and epigenomics)
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Journal

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

Frequent Collaborators

5 joint publications

Carlo Rivolta

4 joint publications

Karolina Kaminska

2 joint publications

Mathieu Quinodoz

2 joint publications

Ana Berta Sousa

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