Author

Cristina Santos

Instituto de Oftalmologia Dr Gama PintoORCID 0000-0002-4751-2180Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Ana Berta SousaiD· 1 shared Andrea Zanetti· 1 shared Ange‐Line BrueliD· 1 shared Carlo RivoltaiD· 1 shared Christel Thauvin‐RobinetiD· 1 shared Cyril GitiauxiD· 1 shared Danielle Amana· 1 shared Ida Chiara GuerreraiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ana Berta SousaORCID

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1 paper

Recent·Most cited

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle S. Audo, Matthieu P. A. Robert, Pierre David, Vincent A. Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, , Isabelle Perrault

This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.

medRxiv · Aug 19, 2023 · PreprintGenetic & Genomic Medicine