Francesca Cancellieri

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 3

Top Topics

End Stage Renal Disease

Intellectual Disability

Top Venues

NPJ genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana-Berta Sousa, Luísa Coutinho Santos, Carlo Rivolta
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2 (3) (2023)
Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana-Berta Sousa, Luísa Coutinho Santos, Carlo Rivolta
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2 (3) (2023)
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H Z Li, Robert A Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna E Weener, Theresia Zuleger, Tobias B Haack, Katarina Stingl, null null, Carel B Hoyng, Omar A Mahroo, Iain Hargreaves, F Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R Webster, Gavin Arno
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. NPJ genomic medicine 7 (1) (2022)