Ana-Berta Sousa

7PUBLICATIONS
212CO-AUTHORS
Cancer geneticsNeurology and neuromuscular diseasesMolecular targetsEpigenetics (incl. genome methylation and epigenomics)Vision science
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Publications (7)

|Apr 16, 2026
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Dec 31, 2024
Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.

Beatriz Anjo Lima, Ana Carolina Pais, Juliette Dupont

|Nov 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie

|Jan 08, 2024
Genetic profile of syndromic retinitis pigmentosa in Portugal.

Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira

|Mar 13, 2023
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

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Frequent Collaborators

5 joint publications

Karolina Kaminska

5 joint publications

Cristina Santos

5 joint publications

Luísa Coutinho-Santos

5 joint publications

Carlo Rivolta