Publications by authors named "Francesca Cancellieri"

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RetiGene, a comprehensive gene atlas for inherited retinal diseases.
Carlo Rivolta, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska

Am J Hum Genet· October 2025

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Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Marianthi Karali, Gema García-García, Karolina Kaminska, Alaa AlTalbishi, Francesca Cancellieri

Eur J Hum Genet· June 2025

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RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).
Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska

bioRxiv· June 2025

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A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.
Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, Karolina Kaminska, Katarina Jovanovic, Francesca Cancellieri

Hum Mol Genet· April 2025

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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens

Am J Hum Genet· April 2025

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A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri

NPJ Genom Med· April 2025

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Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1.
Kristina Pfau, Georg Ansari, Stephan Michels, Chantal Dysli, Sandra Liakopoulos, Francesca Cancellieri

Invest Ophthalmol Vis Sci· February 2025

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ABCA4 c.5461-6T>C Causes Stargardt Disease Through Exon Skipping.
Mathieu Quinodoz, Ana Belén Iglesias-Romero, Francesca Cancellieri, Karolina Kaminska, Hendrik P N Scholl

Adv Exp Med Biol· February 2025

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Francesca Cancellieri

medRxiv· January 2025

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Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Samantha Malka, Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Francesca Cancellieri

Am J Hum Genet· September 2024

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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 Kaminska, Francesca Cancellieri, Ji Hoon Han, Virginie G Peter

Am J Hum Genet· April 2024

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GNB1-Related Rod-Cone Dystrophy: A Case Report.
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik

Case Rep Ophthalmol· March 2024

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The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
Ji Hoon Han, Francesca Cancellieri, Irene Perea-Romero, Carmen Ayuso, Mathieu Quinodoz

Ophthalmic Res· February 2024

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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, Mathieu Quinodoz, Francesca Cancellieri

PNAS Nexus· March 2023

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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 Motta, Neringa Jurkute, Jamie M Ellingford, Francesca Cancellieri

Hum Mol Genet· January 2023

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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H Z Li, Robert A Heaton

NPJ Genom Med· October 2022

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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri

Sci Rep· September 2021

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[Protection of working mothers: operational guide document. The Marche Regional Section of the Italian Society of Occupational Health and Industrial Hygiene (SIMLII) ].
Morena Alessandroni, Barbara Balzani, Francesca Cancellieri, Annamaria Colao, M Comai

Med Lav· December 2013

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