Francesca Cancellieri

Statistics

Publications

Citations

165

H-Index

Active since

2021

Affiliations

University of Basel(Current)

Institute of Molecular and Clinical Ophthalmology Basel

University of Leicester

University of Lausanne

Universidade Nova de Lisboa

Francesca Cancellieri is an author at University of Basel specializing in molecular genetics, hereditary retinal disease, and inherited retinal dystrophies.

ORCID

Publications per year

2021–2026

Publications

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 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 32 citations · Full text

Life Sciences, Genetics, Ophthalmology +17

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 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková et al. · medRxiv · 2025 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads

Mathieu Quinodoz, Karolina Kamińska, Francesca Cancellieri et al. · The American Journal of Human Genetics · 2024 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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