Francesca Cancellieri

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 Kamińska, Cristina Santos et al. · PNAS Nexus · 2023 · 43 citations · Full text

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

Malena Daich Varela, James Bellingham, Fabiana Louise Motta et al. · Human Molecular Genetics · 2022 · 29 citations · Full text

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

Neringa Jurkutė, Francesca Cancellieri, Lisa Pohl et al. · npj Genomic Medicine · 2022 · 21 citations · Full text

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková et al. · 2025 · 13 citations · Full text

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

Atta Ur Rehman, Neda Sepahi, Nicola Bedoni et al. · Scientific Reports · 2021 · 11 citations · Full text