Raquel Sofia Silva (Raquel S Silva)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 3

Top Topics

Genome Wide Association Study

Age Related Macular Degeneration

Diabetic Retinopathy

Top Venues

Cancer research

Ophthalmic genetics

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

Publications

Judith Mary Hariprakash, Elisa Salviato, Federica La Mastra, Endre Sebestyén, Ilario Tagliaferri, Raquel Sofia Silva, Federica Lucini, Lorenzo Farina, Mario Cinquanta, Ilaria Rancati, Mirko Riboni, Simone Paolo Minardi, Luca Roz, Francesca Gorini, Chiara Lanzuolo, Stefano Casola, Francesco Ferrari
Leveraging tissue-specific enhancer-target gene regulatory networks identifies enhancer somatic mutations that functionally impact lung cancer. Cancer research (2023)
Raquel Sofia Silva, Gavin Arno, Valentina Cipriani, Nikolas Pontikos, Sabine Defoort-Dhellemmes, Ambreen Kalhoro, Keren J Carss, F Lucy Raymond, Claire Marie Dhaenens, Hanne Jensen, Thomas Rosenberg, Veronica Van Heyningen, Anthony T Moore, Bernard Puech, Andrew R Webster
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. Human mutation 40 (5) (2019)
Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel Sofia Silva, Nikolas Pontikos, Virginie Puech, Michelle E McClements, David M Hunt, Veronica Van Heyningen, Michel Michaelides, Andrew R Webster, Anthony T Moore, Bernard Puech
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities. Ophthalmic genetics 38 (6) (2017)