Author

Ana Berta Sousa

Centro Hospitalar Lisboa NorteORCID 0000-0001-5889-2492Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Carlo RivoltaiD· 2 shared Mathieu QuinodoziD· 2 shared Alaa AlTalbishiiD· 1 shared Andrea Zanetti· 1 shared Andrew R. WebsteriD· 1 shared Ange‐Line BrueliD· 1 shared Anna LarsoniD· 1 shared Anne B. FultoniD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Carlo RivoltaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 19, 2023

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

Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel…·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.

1 citation

humanmouse

𝕏 PostBluesky

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJun 29, 2021

Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

Riccardo Sangermano, Iris Deitch, Virginie G. Peter…·Kinga M. Bujakowska

The paper identifies INPP5E variants in non-syndromic retinal degenerations, expanding the known phenotypic spectrum of this ciliary gene.

22 citations

humanstatistical model

𝕏 PostBluesky