Author

Barbara Fernández Garoz

Hospital Infantil Universitario Niño Jesús

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 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 Dídac Casas‐AlbaiD· 2 shared Elena González AlguaciliD· 2 shared Ignacio Arroyo CarreraiD· 2 shared Irene MadrigaliD· 2 shared Irene ValenzuelaiD· 2 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Andrea Sariego JamardoORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 16, 2025

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

Marta Sevilla Porras, Esther Nieto-Molina, Zahara Medina…·Mireia del Toro

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

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNature GeneticsPeer-reviewedApr 10, 2025

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

Daniel Greene, Koenraad De Wispelaere, Jonathan Gill Lees…·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.

60 citationstop 1%

humanstatistical model

𝕏 PostBluesky