Valentina Cipriani
7PUBLICATIONS
91CO-AUTHORS
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Publications (7)
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|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.Valentina Cipriani, Letizia Vestito, Emma F Magavern
|Oct 31, 2024
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.Ivone U S Leong, Claudia P Cabrera, Valentina Cipriani
|Nov 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.Damian Smedley, Katherine R Smith, Antonio Martin
|Apr 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.Valentina Cipriani, Nikolas Pontikos, Gavin Arno
|Feb 09, 2020
Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.Valentina Cipriani, Laura Lorés-Motta, Fan He
|Feb 03, 2019
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.Raquel S Silva, Gavin Arno, Valentina Cipriani
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Frequent Collaborators
4 joint publications
Nikolas Pontikos
3 joint publications
Peter N Robinson
2 joint publications
Raquel S Silva
2 joint publications
Mark J Caulfield
2 joint publications
Veronica van Heyningen
2 joint publications
Shamima Rahman
2 joint publications
Damian Smedley
1 joint publications
Ambreen Kalhoro
1 joint publications
David M Hunt
1 joint publications
Fan He
