Author

Barbara Masotto

Vall d'Hebron Hospital Universitari

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Carolina AlvesiD· 2 shared Irene ValenzuelaiD· 2 shared Marta Codina‐SolàiD· 2 shared Achille Lolascon· 1 shared Agatha SchlüteriD· 1 shared Agustí Rodríguez‐PalmeroiD· 1 shared Alejandra DamiániD· 1 shared Alexander P.A. StegmanniD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Carolina AlvesORCID

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Author profile →

2 papers

Recent·Most cited

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

Marta Sevilla Porras, Esther Nieto-Molina, Zahara Medina, Alejandra Damián, Juan R. Tejedor, Carlos Ruiz-Arenas, Mario Cazalla, Rosario Carmona, Jorge Amigo, Ibai Goicoechea, Raúl Tonda, Gemma Bullich, Sergi Beltrán, Noemí Toro-Barrios, Virginia Aquino, , Mireia del Toro

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

medRxiv · Sep 16, 2025 · PreprintGenetic & Genomic Medicine

Genotype-Phenotype Correlation in RBM10-Associated Syndromes. How Variant Function Shapes a Broad Phenotypic Landscape

Jeanne Mari V. Bang, Christina Ringmann Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund, Santiago Martinez Lumbreras, Mark Burton, Klaus Brusgaard, Ángel Guerra-Moreno, Sofie Høi, Lenet W. Skovstrøm, Nikolaj A. Nielsen, Qin Hao, Carolina Alves, L.K. Hansen, Melissa M. Lees, , Brage Storstein Andresen

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

medRxiv · Aug 5, 2025 · PreprintGenetic & Genomic Medicine