Author

Marta Sevilla Porras

Universitat Pompeu FabraORCID 0009-0005-0179-920XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrea Sariego JamardoiD· 2 shared Anna Duat RodrígueziD· 2 shared Antonio Federico Martínez‐MonsenyiD· 2 shared Aurora PujoliD· 2 shared Barbara Fernández Garoz· 2 shared Berta AlmogueraiD· 2 shared Dídac Casas‐AlbaiD· 2 shared Elena González AlguaciliD· 2 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrea Sariego JamardoORCID

Mutual co-authors in cluster

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3 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

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy

Daniel Greene, Koenraad De Wispelaere, Jonathan Gill Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sónia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, , Ernest Turro

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

Nature Genetics · Apr 10, 2025Peer-reviewedGenetic & Genomic Medicine

Novel risk loci for COVID-19 hospitalization among admixed American populations

Silvia Diz‐de Almeida, Raquel Cruz, André Ducati Luchessi, Jose Miguel Lorenzo-Salazar, Miguel López de Heredia, Inés Quintela, Rafaela González‐Montelongo, Vivian Nogueira Silbiger, Marta Sevilla Porras, Jair Antonio Tenorio, Julián B. Nevado, José María Aguado, Carlos Aguilar, Sergio Aguilera, Virginia Almadana Pacheco, , Juan Carlos Souto

This study identifies novel genetic risk loci for COVID-19 hospitalization in admixed American populations through a large GWAS.

eLife · Sep 16, 2024Peer-reviewedGenetic & Genomic Medicine